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Biomarker List

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ARTICLE DISEASE SEQ_TYPE TISSUE CELL_LINE GENE SPECIES
ALK2 mutation in a patient with Down's syndrome and a congenital heart defect Atrioventricular septal defect Exome sequencing Others Buccal swab ALK2 Homo sapiens
An essential role of Bmp4 in the atrioventricular septation of the mouse heart Atrioventricular septal defect Expression profiling by RT-PCR Embryonic heart Others BMP4 Mus musculus
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects Atrioventricular septal defect Sanger sequence Embryos Others COL6A1 Homo sapiens
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects Atrioventricular septal defect Sanger sequence Embryos Others COL6A2 Homo sapiens
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects Atrioventricular septal defect Sanger sequence Embryos Embryonic cardiomyocytes CRELD1 Homo sapiens
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects Atrioventricular septal defect Sanger sequencing Embryos Embryonic cardiomyocytes CRELD2 Homo sapiens
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects Atrioventricular septal defect Sanger sequence Embryos Others FBLN2 Homo sapiens
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects Atrioventricular septal defect Sanger sequence Embryos Others FRZB Homo sapiens
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects Atrioventricular septal defect Sanger sequence Lymphoid Lymphoblast GATA5 Homo sapiens
Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study Atrioventricular septal defect SNP genotyping by SNP array Blood Cord blood GDF1 Homo sapiens
Atrioventricular canal defect in patients with RASopathies Atrioventricular septal defect Strand conformation polymorphism analysis or de Blood Leukocytes PTPN11 Homo sapiens
Atrioventricular canal defect in patients with RASopathies Atrioventricular septal defect Strand conformation polymorphism analysis or de Blood Leukocytes RAF1 Homo sapiens
Atrioventricular canal defect in patients with RASopathies Atrioventricular septal defect Strand conformation polymorphism analysis or de Blood Leukocytes SOS1 Homo sapiens
Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients Atrioventricular septal defect Genome variation profiling by array Lymphoid Lymphoblast AUTS2 Homo sapiens
Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients Atrioventricular septal defect Genome variation profiling by array Lymphoid Lymphoblast IL12RB2 Homo sapiens
Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients Atrioventricular septal defect Genome variation profiling by array Lymphoid Lymphoblast IL1B Homo sapiens
Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients Atrioventricular septal defect Genome variation profiling by array Lymphoid Lymphoblast KIAA2022 Homo sapiens
Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development Atrioventricular septal defect Double-strand direct sequencing Blood Lymphoblast or fibroblast LEFTY A Homo sapiens
Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development Atrioventricular septal defect Double-strand direct sequencing Blood Lymphoblast or fibroblast LEFTY B Homo sapiens
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms Atrioventricular septal defect Exome sequencing for analysis, sanger sequence for Embryos Others Dnah11 Mus musculus
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms Atrioventricular septal defect Exome sequencing for analysis, sanger sequence for Embryos Others Mks1 Mus musculus
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot Atrioventricular septal defect SNP genotyping by SNP array and double-strand dire Embryos Embryonic cardiomyocytes JAG1 Homo sapiens
Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11 Atrioventricular septal defect Sanger sequencing Embryos Embryonic cardiomyocytes SHOC2 Homo sapiens
Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11 Atrioventricular septal defect Sanger sequencing Embryos Others BRAF Homo sapiens
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects Atrioventricular septal defect Exome sequencing Embryos Others RAR1 Homo sapiens
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects Atrioventricular septal defect Exome sequencing Blood / Lymphoid / Salivary gland Whole blood/Lymphoblast/ Saliva MYH6 Homo sapiens
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects Atrioventricular septal defect Exome sequencing Blood / Lymphoid / Salivary gland Whole blood/Lymphoblast/ Saliva NOTCH1 Homo sapiens
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects Atrioventricular septal defect Exome sequencing Blood / Lymphoid / Salivary gland Whole blood/Lymphoblast/ Saliva NR1D2 Homo sapiens
Down syndrome congenital heart disease: a narrowed region and a candidate gene Atrioventricular septal defect Southern blot and FISH Blood Lymphoblast or fibroblast DSCAM Homo sapiens
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect Atrioventricular septal defect Exome sequencing for analysis, sanger sequence for Heart Others BMPR1a Homo sapiens
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect Atrioventricular septal defect Exome sequencing for analysis, sanger sequence for Heart Others CEP152 Homo sapiens
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect Atrioventricular septal defect Exome sequencing for analysis, sanger sequence for Heart Others CHD7 Homo sapiens
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect Atrioventricular septal defect Exome sequencing for analysis, sanger sequence for Heart Others MDM4 Homo sapiens
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect Atrioventricular septal defect Exome sequencing for analysis, sanger sequence for Heart Others NIPBL Homo sapiens
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect Atrioventricular septal defect Exome sequencing for analysis, sanger sequence for Heart Others ZFPM2 Homo sapiens
Foxf genes integrate tbx5 and hedgehog pathways in the second heart field for cardiac septation Atrioventricular septal defect ChIP-seq Embryos Embryonic cardiomyocytes GLI1 Mus musculus
Foxf genes integrate tbx5 and hedgehog pathways in the second heart field for cardiac septation Atrioventricular septal defect ChIP-seq Embryos Embryonic cardiomyocytes GLI3 Mus musculus
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 Atrioventricular septal defect Exome sequencing Lymphoid Lymphocytes GATA4 Homo sapiens
Genetic abnormalities in FOXP1 are associated with congenital heart defects Atrioventricular septal defect Expression profiling by qRT-PCR and Double-strand Fetus NA FOXP1 Homo sapiens
Genetic Variants at the rs4720169 Locus of TBX20 and the rs12921862 Locus of AXIN1 May Increase the Risk of Congenital Heart Defects in the Mexican Population: A Pilot Study Atrioventricular septal defect Genotying by qPCR Blood Venous blood MTHFR Homo sapiens
Genetic Variants at the rs4720169 Locus of TBX20 and the rs12921862 Locus of AXIN1 May Increase the Risk of Congenital Heart Defects in the Mexican Population: A Pilot Study Atrioventricular septal defect Genotying by qPCR Blood Venous blood TBX20 Homo sapiens
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect Atrioventricular septal defect Denaturing high-performance liquid chromatography Blood Peripheral blood NFATC1 Homo sapiens
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect Atrioventricular septal defect Denaturing high-performance liquid chromatography Blood Peripheral blood TBX1 Homo sapiens
Human gene copy number spectra analysis in congenital heart malformations Atrioventricular septal defect SNP genotyping by SNP array Blood Whole blood ELN Homo sapiens
Human gene copy number spectra analysis in congenital heart malformations Atrioventricular septal defect SNP genotyping by SNP array Blood Whole blood FLNA Homo sapiens
Human gene copy number spectra analysis in congenital heart malformations Atrioventricular septal defect SNP genotyping by SNP array Blood Whole blood GJA5 Homo sapiens
Human gene copy number spectra analysis in congenital heart malformations Atrioventricular septal defect SNP genotyping by SNP array Blood Whole blood HRAS Homo sapiens
Identi?cation and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations Atrioventricular septal defect PCR-based DHPLC and double-strand direct sequenci Lymphoid Lymphoblast NODAL Homo sapiens
Identification of connexin43 (?1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE) Atrioventricular septal defect Fluorescent dideoxy termination sequencing Heart / Blood Others/Peripheral blood Cx43 Homo sapiens
Identification of connexin43 (?1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE) Atrioventricular septal defect Fluorescent dideoxy termination sequencing Heart / Blood Others/Peripheral blood GJA1 Homo sapiens
Identification of GATA6 sequence variants in patients with congenital heart defects Atrioventricular septal defect Exome sequencing Blood Venous blood GATA6 Homo sapiens
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins Atrioventricular septal defect DNA microarrays Lymphoid Lymphoblast FOXF1 Homo sapiens
Left cardiac isomerism in the Sonic hedgehog null mouse Atrioventricular septal defect Genotying by PCR Embryos Others ISL1 Mus musculus
Left cardiac isomerism in the Sonic hedgehog null mouse Atrioventricular septal defect Genotying by PCR Embryos Others SHH Mus musculus
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB Atrioventricular septal defect Double-strand direct sequencing Blood Lymphoblast or fibroblast ACVR2B Homo sapiens
Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways Atrioventricular septal defect DNA microarrays, qRT-PCR for validation Lymphoid Lymphoblast Cluster:PIGP-TTC3-DSCR3 Homo sapiens
Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways Atrioventricular septal defect DNA microarrays, qRT-PCR for validation Lymphoid Lymphoblast OFD1 Homo sapiens
Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways Atrioventricular septal defect DNA microarrays, qRT-PCR for validation Lymphoid Lymphoblast RSPH1 Homo sapiens
Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways Atrioventricular septal defect DNA microarrays, qRT-PCR for validation Lymphoid Lymphoblast TSGPA2 Homo sapiens
Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways Atrioventricular septal defect DNA microarrays, qRT-PCR for validation Lymphoid Lymphoblast TUBB2B Homo sapiens
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome Atrioventricular septal defect Genomic sequencing Connective Fibroblast EVC Homo sapiens
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome Atrioventricular septal defect Genomic sequencing Connective Fibroblast EVC2 Homo sapiens
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies Atrioventricular septal defect  Sanger sequencing Fetus / Blood Amniocytes/NA Acvr2 Homo sapiens
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies Atrioventricular septal defect  Sanger sequencing Fetus / Blood Amniocytes/NA Zic3 Homo sapiens
Novel NKX2–5 Mutations in Diseased Heart Tissues of Patients with Cardiac Malformations Atrioventricular septal defect Double-strand direct sequencing Heart / Blood Others/NA Nkx2.5 Homo sapiens
Rare variants in NR2F2 cause congenital heart defects in humans Atrioventricular septal defect Exome sequencing Blood / Salivary gland Venous blood/saliva Coup-TFII Homo sapiens
Rare variants in NR2F2 cause congenital heart defects in humans Atrioventricular septal defect Exome sequencing Blood / Salivary gland Venous blood/saliva NR2F2 Homo sapiens
TBX5 Mutations in Non-Holt-Oram Syndrome (HOS) Malformed Hearts Atrioventricular septal defect Double-strand direct sequencing Heart Others TBX5 Homo sapiens
Two novel HAND1 mutations in Chinese patients with ventricular septal defect Atrioventricular septal defect Double-strand direct sequencing Blood Leukocytes HAND1 Homo sapiens
Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease Atrioventricular septal defect Fluorescent dideoxy termination sequencing Lymphoid Lymphocytes CFC1 Homo sapiens
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome Atrioventricular septal defect SNP genotyping by SNP array Lymphoid Lymphoblast MTHFR Homo sapiens
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome Atrioventricular septal defect SNP genotyping by SNP array Lymphoid Lymphoblast MTR Homo sapiens
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome Atrioventricular septal defect SNP genotyping by SNP array Lymphoid Lymphoblast MTRR Homo sapiens
ABCB6 Mutations Cause Ocular Coloboma Anophthalmia / microphthalmia Exome sequencing and expression profiling by RT-PC Blood Peripheral blood ABCB6 Homo sapiens
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm Anophthalmia / microphthalmia Exome sequencing and whole-genome sequencing Embryos Others ALDH1A3 Homo sapiens
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia Anophthalmia / microphthalmia SNP genotyping by SNP array and DNA micrarray NA NA ALX1 Homo sapiens
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects Anophthalmia / microphthalmia SNP genotyping by SNP array, Next generation seque Blood Peripheral blood ATOH7 Homo sapiens
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR Anophthalmia / microphthalmia Double-strand direct sequencing Blood Peripheral blood BCOR Homo sapiens
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR Anophthalmia / microphthalmia Expression profiling by RT-PCR Blood Peripheral blood BCOR Zebrafish
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome Anophthalmia / microphthalmia Double-strand direct sequencing and SNP genotyping Blood / Others Peripheral blood/ buccal swab BMP4 Homo sapiens
Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies Anophthalmia / microphthalmia Double-strand direct sequencing Blood Whole blood BMP7 Homo sapiens
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia Anophthalmia / microphthalmia Exome sequencing and double-strand direct sequenci Blood NA C12orf57 Homo sapiens
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing Anophthalmia / microphthalmia Exome sequencing and sanger sequencing for validat Blood Leukocytes CHD7 Homo sapiens
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds Anophthalmia / microphthalmia GWAS Blood Whole blood CHX10/VSX2 Homo sapiens
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing Anophthalmia / microphthalmia Exome sequencing and sanger sequencing for validat Blood Leukocytes COL4A1 Homo sapiens
Microphthalmia with Linear Skin Defects Syndrome Anophthalmia / microphthalmia Exome sequencing, exome array and DNA microarray Blood Leukocytes COX7B Homo sapiens
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia Anophthalmia / microphthalmia Sanger sequencing Blood Venous blood CRYBA4 Homo sapiens
Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea Anophthalmia / microphthalmia Expression profiling by RT-PCR Connective Fibroblast DPYD Homo sapiens
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly Anophthalmia / microphthalmia SNP genotyping by SNP array and exome sequencing/E Lymphoid / Salivary gland Lymphocytes/Saliva FAT1 Homo sapiens
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1 Anophthalmia / microphthalmia Exome sequencing Blood Leukocyte FOXE3 Homo sapiens
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family Anophthalmia / microphthalmia PCR-based sequencing Blood Whole blood FRAS1 Homo sapiens
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family Anophthalmia / microphthalmia PCR-based sequencing Blood Whole blood FREM2 Homo sapiens
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma Anophthalmia / microphthalmia Exome sequencing and Sanger sequencing Embryos Others FZD5 Zebrafish / Homo sapiens
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies Anophthalmia / microphthalmia Exome sequencing Blood Venous blood GDF3 Homo sapiens
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes Anophthalmia / microphthalmia Sanger sequencing Blood NA GDF6 Homo sapiens
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes Anophthalmia / microphthalmia Expression profiling by qPCR Embryo Others GDF6 Zebrafish
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia Anophthalmia / microphthalmia Sanger sequencing Blood Venous blood GJA3 Homo sapiens
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia Anophthalmia / microphthalmia Sanger sequencing Blood Venous blood GJA8 Homo sapiens
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies Anophthalmia / microphthalmia Exome sequencing and sanger sequencing Blood NA GJA8 Homo sapiens
Microphthalmia with Linear Skin Defects Syndrome Anophthalmia / microphthalmia Exome sequencing, exome array and DNA microarray Blood Leukocytes HCCS Homo sapiens
A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery Anophthalmia / microphthalmia PCR-based sequencing Blood Peripheral blood HESX1 Homo sapiens
MKS1 regulates ciliary INPP5E levels in Joubert syndrome Anophthalmia / microphthalmia Exome sequencing and sanger sequencing for validat Connective Fibroblast INPP5E Homo sapiens
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract Anophthalmia / microphthalmia Exome sequencing and homozygosity mapping Blood Peripheral blood mononuclear cells IPO13 Zebrafish / Homo sapiens
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations Anophthalmia / microphthalmia Exome sequencing NA NA MAB21L2 Homo sapiens
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations Anophthalmia / microphthalmia Exome sequencing Embryo Others Mab21l2 Mus musculus
Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma Anophthalmia / microphthalmia Comparative genomic hybridization (CGH) microarray NA NA MAF Homo sapiens
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing Anophthalmia / microphthalmia Exome sequencing and sanger sequencing for validat Blood Leukocytes MFRP Homo sapiens
Biallelic mutations in MITF cause coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness Anophthalmia / microphthalmia Sanger sequencing Embryo Others MITF Zebrafish
NAA10 polyadenylation signal variants cause syndromic microphthalmia Anophthalmia / microphthalmia RNA-sequencing Blood Whole blood NAA10 Homo sapiens
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma Anophthalmia / microphthalmia Exome sequencing and sanger sequencing Blood NA NDP Homo sapiens
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma Anophthalmia / microphthalmia Exome sequencing Blood NA NDP Homo sapiens
Microphthalmia with Linear Skin Defects Syndrome Anophthalmia / microphthalmia Exome sequencing, exome array and DNA microarray Blood Leukocytes NDUFB11 Homo sapiens
Homozygous null mutation in ODZ3 causes microphthalmia in humans Anophthalmia / microphthalmia Double-strand direct sequencing/expression profili Blood / Lymphoid NA/Lymphoblasts ODZ/TENM3 Homo sapiens
Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders Anophthalmia / microphthalmia Expression profiling by qRT-PCR Embryo Mesenchymal cells OLFM2 Homo sapiens
Heterozygous mutations of OTX2 cause severe ocular malformations Anophthalmia / microphthalmia Double-strand direct sequencing Blood / Others Peripheral blood/Buccal swab OTX2 Homo sapiens
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia Anophthalmia / microphthalmia Double-strand direct sequencing Blood Venous blood PAX2 Homo sapiens
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects Anophthalmia / microphthalmia Double-strand direct sequencing Lymphoid / Blood Lymphoblast/Venous blood PAX6 Homo sapiens
Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma Anophthalmia / microphthalmia CGH arrays NA NA PITX2 Homo sapiens
Identification of PITX3 mutations in individuals with various ocular developmental defects Anophthalmia / microphthalmia Sanger sequencing Blood / Salivary gland NA/ Saliva PITX3 Homo sapiens
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap Anophthalmia / microphthalmia Amplicon sequencing Lymphoid Lymphocytes PORCN Homo sapiens
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap Anophthalmia / microphthalmia Expression profiling by RT-PCR Blood Venous blood PORCN Homo sapiens
Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis Anophthalmia / microphthalmia Gentyping by PCR Limb / Tail NA PORCN Mus musculus
Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene Anophthalmia / microphthalmia Exome sequencing and sanger sequencing for validat NA NA PQBP1 Homo sapiens
Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene Anophthalmia / microphthalmia SNP genotyping by SNP array NA NA PRSS56 Homo sapiens
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network Anophthalmia / microphthalmia High-throughput DNA sequencing NA NA PTCH1 Homo sapiens
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network Anophthalmia / microphthalmia ChIP-seq Embryo Whole-embryo lysate PTCH1 Mus musculus
Biallelic Deletion of Pxdn in Mice Leads to Anophthalmia and Severe Eye Malformation Anophthalmia / microphthalmia Expression profiling by RT-PCR Lung NA PXDN Mus musculus
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis Anophthalmia / microphthalmia Exome sequencing and whole-genome sequencing, sang NA NA PXDN Homo sapiens
RAB18 Deficiency Anophthalmia / microphthalmia Exome sequencing Blood Leukocytes RAB18 Homo sapiens
Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia Anophthalmia / microphthalmia Exome sequencing Blood NA RARB Homo sapiens
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia Anophthalmia / microphthalmia Exome sequencing and sanger sequencing for validat Blood NA RAR? Homo sapiens
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea Anophthalmia / microphthalmia Double-strand direct sequencing Others / Salivary gland Buccal swab/Saliva RAX Homo sapiens
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease Anophthalmia / microphthalmia Sanger sequence and SNP genotyping by SNP array Blood / Salivary gland / Others NA/Saliva/ buccal swab RBP4 Homo sapiens
Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns Anophthalmia / microphthalmia Exome sequencing Blood Peripheral blood RBP4 Homo sapiens
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes Anophthalmia / microphthalmia Exons and flanking introns sequencing Blood Leukocytes SALL1 Homo sapiens
Mutation of SALL2 causes recessive ocular coloboma in humans and mice Anophthalmia / microphthalmia Exome sequencing and homozygosity mapping Blood NA SALL2 Homo sapiens
Mutation of SALL2 causes recessive ocular coloboma in humans and mice Anophthalmia / microphthalmia Exome sequencing and homozygosity mapping Embryo Embryonic eyes SALL2 Mus musculus
Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum Anophthalmia / microphthalmia Amplicon sequencing Lymphoid Lymphocytes SALL4 Homo sapiens
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia Anophthalmia / microphthalmia Double-strand direct sequencing Blood Venous blood SHH Homo sapiens
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia Anophthalmia / microphthalmia Sanger sequencing Blood Venous blood SIX3 Homo sapiens
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds Anophthalmia / microphthalmia Exons and flanking introns sequencing Blood Whole blood SIX4 Homo sapiens
A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation Anophthalmia / microphthalmia Sanger sequencing Blood Peripheral blood SIX6 Homo sapiens
A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation Anophthalmia / microphthalmia Sanger sequencing Retina Retinal Cell SIX6 Mus musculus
SMCHD1 mutations associated with a rare muscular dystrophy can also case isolated arhinia and Bosma arhinia microphthalmia syndrome Anophthalmia / microphthalmia Exome sequencing and whole-genome sequencing, sang Blood NA SMCHD1 Homo sapiens
A recurrent mosaic mutation in SMO, encoding the Hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome Anophthalmia / microphthalmia Exome sequencing Blood NA SMO Homo sapiens
SMOC1 is essential for ocular and limb development in humans and mice Anophthalmia / microphthalmia SNP genotyping by SNP array Blood Leukocyte SMOC1 Homo sapiens
SMOC1 is essential for ocular and limb development in humans and mice Anophthalmia / microphthalmia Gentyping by PCR Embryo / ear / Others Yolk-sac/NA/ tail biopsies SMOC1 Mus musculus
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia Anophthalmia / microphthalmia Double-strand direct sequencing Blood / Others NA/Buccal swab SOX2 Homo sapiens
A complex phenotype in a family with a pathogenic SOX3 missense variant Anophthalmia / microphthalmia Exome sequencing and sanger sequencing for validat Blood Peripheral blood SOX3 Homo sapiens
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype Anophthalmia / microphthalmia Next-generation sequencing and SNP genotyping by S Lymphoid Lymphocytes STRA6 Homo sapiens
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype Anophthalmia / microphthalmia CGH arrays, SNP genotyping by SNP array and bidire NA NA TFAP2? Homo sapiens
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12 nanophthalmia Exome sequencing Blood / Salivary gland Peripheral whole blood/ Saliva TMEM98 Homo sapiens
A male with unilateral microphthalmia reveals a role for TMX3 in eye development Anophthalmia / microphthalmia Genomic sequencing Lymphoid Lymphocytes TMX3 Homo sapiens
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing Anophthalmia / microphthalmia Exome sequencing and sanger sequencing for validat Blood Leukocytes VSX1 Homo sapiens
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans Anophthalmia / microphthalmia Exome sequencing NA NA VSX1 Homo sapiens
New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders Anophthalmia / microphthalmia Expression profiling by RT-PCR Salivary gland Saliva YAP1 Homo sapiens
The association and significance of H3K27me3 and a folate metabolic gene ACat2 in neural tube defects Neural tube defect Expression profiling by qRT-PCR Neural Neural stem cells ACAT2 Mus musculus
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects Neural tube defect SNP genotyping by SNP array Blood Blood spots ADA Homo sapiens
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects Neural tube defect SNP genotyping by SNP array Blood Blood spots ALDH1A2 Homo sapiens
Alx3-deficient mice exhibit folic acid-resistant craniofacial midline and neural tube closure defects Neural tube defect Genotyping by PCR/Expression profiling by RT-PCR Tail / Head Tail biopsies/Others ALX3 Mus musculus
Genetic association of the glycine cleavage system genes and myelomeningocele Neural tube defect Exome sequencing and sanger sequencing Blood / Salivary gland Whole blood/Saliva AMT Homo sapiens
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects Neural tube defect SNP genotyping by SNP array Blood Blood spots ARID1A Homo sapiens
Transcriptomic profile analysis of mouse neural tube development by RNA-Seq Neural tube defect RNA-seq Embryo Embryo neural tube ASCL1 Mus musculus
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway Neural tube defect Exome sequencing and sanger sequencing for vadilat Blood Cord blood BHMT Homo sapiens
Identification of transcripts potentially involved in neural tube closure using RNA sequencing Neural tube defect RNA-seq Embryo Whole embryo BMP Zebrafish
Transcriptomic profile analysis of mouse neural tube development by RNA-Seq Neural tube defect RNA-seq Embryo Embryo neural tube BMP2 Mus musculus
Histone deacetylase inhibitor Trichostatin A induces neural tube defects and promotes neural crest specification in the chicken neural tube Neural tube defect Expression profiling by enzyme-linked immunosorben Fetus Amniotic fluid cells BMP4 Homo sapiens
Mutation incidence in folate metabolism genes and regulatory genes in Polish families with neural tube defects Neural tube defect Genome variation profiling by polymorphism Blood NA BRCA1 Homo sapiens
Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study Neural tube defect SNP genotyping by SNP array Blood Blood spots CARM1 Homo sapiens
CBP/p300 and associated transcriptional co-activators exhibit distinct expression patterns during murine craniofacial and neural tube development Neural tube defect Expression profiling by in situ hybridization Embryo Others CART1 Mus musculus
Casp8 hypomethylation and neural tube defects in association with polycyclic aromatic hydrocarbon exposure Neural tube defect Methylation profiling by array Neural Others Casp8 Homo sapiens
CBP/p300 and associated transcriptional co-activators exhibit distinct expression patterns during murine craniofacial and neural tube development Neural tube defect Expression profiling by in situ hybridization Embryo Others CBP Mus musculus
Temporal expression of genes involved in folate metabolism and transport during placental development, preeclampsia and neural tube defects Neural tube defect Expression profiling by qRT-PCR Maternal uterine Placenta CBS Homo sapiens
Genetic modifiers of folate, vitamin B-12, and homocysteine status in a cross-sectional study of the Canadian population Neural tube defect SNP genotyping by SNP array Blood Whole blood CD320 Homo sapiens
A combination insecticide at sub-lethal dose debilitated the expression pattern of crucial signalling molecules that facilitate craniofacial patterning in domestic chick Gallus domesticus Neural tube defect Expression profiling by qRT-PCR Head Others CDH2 Chicken
?-catenin regulates Pax3 and Cdx2 for caudal neural tube closure and elongation Neural tube defect Expression profiling by qRT-PCR Nerve Caudal neural fold CDX2 Mus musculus
Elevated H3K79 homocysteinylation causes abnormal gene expression during neural development and subsequent neural tube defects Neural tube defect ChIP-seq and RNA-seq Brain Others CECR2 Homo sapiens
Digenic variants of planar cell polarity genes in human neural tube defect patients Neural tube defect Next-generation sequencing and sanger sequencing f Blood / Connective Cord blood/ Umbilical cord CELSR1 Homo sapiens
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly Neural tube defect Exome sequencin and sanger sequencing for validati Connective / Blood Fibroblast/Whole blood CELSR2 Homo sapiens
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway Neural tube defect Exome sequencing and sanger sequencing for vadilat Blood Cord blood CFAP46 Homo sapiens
Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect Neural tube defect Expression profiling by in situ hybridization Placental tissues / parental blood Others CHD2 Homo sapiens
Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study Neural tube defect SNP genotyping by SNP array Blood Blood spots CITED2 Homo sapiens
High Glucose-Repressed CITED2 Expression Through miR-200b Triggers the Unfolded Protein Response and Endoplasmic Reticulum Stress Neural tube defect Expression profiling by qRT-PCR Embryo / Nerve Whole embryo/Neural stem cells CITED2 Mus musculus
Expression of p53/HGF/c-met/STAT3 signal in fetuses with neural tube defects Neural tube defect Expression profiling by RT-PCR Fetus Others C-MET Homo sapiens
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly Neural tube defect Exome sequencin and sanger sequencing for validati Connective / Blood Fibroblast/Whole blood COBL Homo sapiens
Association between maternal COMT gene polymorphisms and fetal neural tube defects risk in a Chinese population Neural tube defect SNP genotyping by SNP array Blood Venous blood COMT Homo sapiens
Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2 Neural tube defect SNP genotyping by SNP array Blood Others CRABP1 Homo sapiens
Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2 Neural tube defect SNP genotyping by SNP array Blood Others CRABP2 Homo sapiens
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect Neural tube defect CGH array, next-generation sequencing and sanger s Blood Peripheral blood cells CREBBP Homo sapiens
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population Neural tube defect Next-generation sequencing Neural Others CUBN Homo sapiens
Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2 Neural tube defect SNP genotyping by SNP array Blood Others CYP26A1 Homo sapiens
Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2 Neural tube defect SNP genotyping by SNP array Blood Others CYP26B1 Homo sapiens
Identification of novel rare mutations of DACT1 in human neural tube defects Neural tube defect Double strand direct sequencing Embryo Others DACT1 Homo sapiens
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida Neural tube defect Whole genome sequencing Infant bloodspots Venous blood DDR Homo sapiens
Association of FOLH1, DHFR, and MTHFR gene polymorphisms with susceptibility of Neural Tube Defects: A case control study from Eastern India Neural tube defect SNP genotyping by SNP array Blood Leukocytes DHFR Homo sapiens
Fate Specification of Neural Plate Border by Canonical Wnt Signaling and Grhl3 is Crucial for Neural Tube Closure Neural tube defect DNA microarray Embryo Embryonic stem cells DKK1/ KREMEN1 Mus musculus
Whole exome sequencing identifies novel predisposing genes in neural tube defects Neural tube defect Exome sequencing Saliva / blood Others DLC1 Homo sapiens
Genetic modifiers of folate, vitamin B-12, and homocysteine status in a cross-sectional study of the Canadian population Neural tube defect SNP genotyping by SNP array Blood Whole blood DNMT2 Homo sapiens
Elevated H3K79 homocysteinylation causes abnormal gene expression during neural development and subsequent neural tube defects Neural tube defect ChIP-seq and RNA-seq Brain Others DNMT3B Homo sapiens
Rare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects Neural tube defect Exome sequencing NA NA DVL1 Homo sapiens
Digenic variants of planar cell polarity genes in human neural tube defect patients Neural tube defect Next-generation sequencing and sanger sequencing f Blood / Connective Cord blood/ Umbilical cord DVL3 Homo sapiens
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect Neural tube defect CGH array, next-generation sequencing and sanger s Blood Peripheral blood cells EP300 Homo sapiens
Plexin-B2, but not Plexin-B1, critically modulates neuronal migration and patterning of the developing nervous system in vivo Neural tube defect Expression profiling by RT-PCR Brain / Embryo Cerebellum/Embryonic stem cells ERBB2 Mus musculus
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly Neural tube defect Exome sequencin and sanger sequencing for validati Connective / Blood Fibroblast/Whole blood FAT4 Homo sapiens
Identification of transcripts potentially involved in neural tube closure using RNA sequencing Neural tube defect RNA-seq Embryo Whole embryo FGF Zebrafish
Comparative Study on the Differentiation of Mesenchymal Stem Cells Between Fetal and Postnatal Rat Spinal Cord Niche Neural tube defect Expression profiling by qRT-PCR Embryo Others FGF2 Mus musculus
The effect of folic acid deficiency on FGF pathway via Brachyury regulation in neural tube defects Neural tube defect Methylation profiling by array Embryo Embryonic stem cells FGF8 Mus musculus
The effect of folic acid deficiency on FGF pathway via Brachyury regulation in neural tube defects Neural tube defect Expression profiling by qRT-PCR Brain Others FGF8 Homo sapiens
Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development Neural tube defect Exome sequencing and sanger sequencing Neural Neural stem cells FGFR1 Homo sapiens
Association of FOLH1, DHFR, and MTHFR gene polymorphisms with susceptibility of Neural Tube Defects: A case control study from Eastern India Neural tube defect SNP genotyping by SNP array Blood Leukocytes FOLH1 Homo sapiens
FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice Neural tube defect Expression profiling by microarray Skull vaults Others FOXL2 Mus musculus
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway Neural tube defect Exome sequencing and sanger sequencing for vadilat Blood Cord blood FPGS Homo sapiens
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population Neural tube defect Next-generation sequencing Neural Others FTCD Homo sapiens
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans Neural tube defect Double strand direct sequencing NA NA FUZZY Homo sapiens
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly Neural tube defect Exome sequencin and sanger sequencing for validati Connective / Blood Fibroblast/Whole blood FZD1 Homo sapiens
Polymorphisms in FZD3 and FZD6 genes and risk of neural tube defects in a northern Han Chinese population Neural tube defect Double strand direct sequencing Blood Peripheral blood FZD3 Homo sapiens
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly Neural tube defect Exome sequencin and sanger sequencing for validati Connective / Blood Fibroblast/Whole blood FZD6 Homo sapiens
Polymorphisms in FZD3 and FZD6 genes and risk of neural tube defects in a northern Han Chinese population Neural tube defect Double strand direct sequencing Blood Peripheral blood FZD6 Homo sapiens
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population Neural tube defect Next-generation sequencing Neural Others GAMT Homo sapiens
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population Neural tube defect Next-generation sequencing Neural Others GART Homo sapiens
Folate deficiency induced H2A ubiquitination to lead to downregulated expression of genes involved in neural tube defects Neural tube defect ChIP-seq and RNA-seq Embryo Embryonic stem cells GATA4 Mus musculus
Use of high-frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc-deficient mice Neural tube defect Genotyping by PCR Tail tip / limb Others GLDC Mus musculus
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway Neural tube defect Exome sequencing and sanger sequencing for vadilat Blood Cord blood GLI3 Homo sapiens
Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice Neural tube defect Genotyping by PCR Embryo Yolk sacs GRHL2 Mus musculus
Fate Specification of Neural Plate Border by Canonical Wnt Signaling and Grhl3 is Crucial for Neural Tube Closure Neural tube defect DNA microarray Embryo Embryonic stem cells GRHL3 Mus musculus
Hypomethylation of GRHL3 gene is associated with the occurrence of neural tube defects Neural tube defect Methylation profiling by array Fetal brain / spinal cord Others GRHL3 Homo sapiens
Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects Neural tube defect Methylation profiling by bisulfite sequencing PCR Brain Others H19 Homo sapiens
Expression of p53/HGF/c-met/STAT3 signal in fetuses with neural tube defects Neural tube defect Expression profiling by RT-PCR Fetus Others HGF Homo sapiens
FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice Neural tube defect Expression profiling by microarray Skull vaults Others IGF1 Mus musculus
Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects Neural tube defect Methylation profiling by bisulfite sequencing PCR Brain Others IGF2 Homo sapiens
Transgenic studies on homeobox genes in nervous system development: spina bifida in Isl1 transgenic mice Neural tube defect Expression profiling by RT-PCR Tail / Embryo Tail biopsies or embryonic yolk ISL1 Mus musculus
Whole exome sequencing identifies novel predisposing genes in neural tube defects Neural tube defect Exome sequencing Saliva / blood Others ITGB1 Homo sapiens
Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome Neural tube defect Next-generation sequencing and sanger sequencing f Blood Peripheral blood JAG1 Homo sapiens
Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect Neural tube defect Expression profiling by in situ hybridization Placental tissues / parental blood Others KIF7 Homo sapiens
Transcriptomic profile analysis of mouse neural tube development by RNA-Seq Neural tube defect RNA-seq Embryo Embryo neural tube LHX1 Mus musculus
Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect Neural tube defect Expression profiling by in situ hybridization Placental tissues / parental blood Others LINGO1 Homo sapiens
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway Neural tube defect Exome sequencing and sanger sequencing for vadilat Blood Cord blood LRP2 Homo sapiens
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly Neural tube defect Exome sequencin and sanger sequencing for validati Connective / Blood Fibroblast/Whole blood MAT1A Homo sapiens
Genetic and biochemical determinants of serum concentrations of monocyte chemoattractant protein-1, a potential neural tube defect risk factor Neural tube defect Genotyping by qPCR Blood Whole blood MCP-1/CCL2 Homo sapiens
Folate deficiency induced H2A ubiquitination to lead to downregulated expression of genes involved in neural tube defects Neural tube defect ChIP-seq and RNA-seq Embryo Embryonic stem cells MDM2 Mus musculus
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway Neural tube defect Exome sequencing and sanger sequencing for vadilat Blood Cord blood MKSI Homo sapiens
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway Neural tube defect Exome sequencing and sanger sequencing for vadilat Blood Cord blood MMAA Homo sapiens
?-catenin regulates Pax3 and Cdx2 for caudal neural tube closure and elongation Neural tube defect Expression profiling by qRT-PCR Nerve Caudal neural fold MSX1 Mus musculus
Single nucleotide polymorphisms of the maternal Msx2 gene and their association with fetal neural tube defects in Han ethnic group in Shanxi Province, China Neural tube defect Genotyping by PCR Blood Peripheral nucleated blood cells MSX2 Homo sapiens
Association between MTHFD1 polymorphisms and neural tube defect susceptibility Neural tube defect SNP genotyping by SNP array Blood Others MTHFD1 Homo sapiens
Association of FOLH1, DHFR, and MTHFR gene polymorphisms with susceptibility of Neural Tube Defects: A case control study from Eastern India Neural tube defect SNP genotyping by SNP array Blood Leukocytes MTHFR Homo sapiens
Analysis of MTR and MTRR Polymorphisms for Neural Tube Defects Risk Association Neural tube defect SNP genotyping by SNP array Blood Whole blood MTR Homo sapiens
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects Neural tube defect SNP genotyping by SNP array Blood Blood spots MTR Homo sapiens
Analysis of MTR and MTRR Polymorphisms for Neural Tube Defects Risk Association Neural tube defect SNP genotyping by SNP array Blood Whole blood MTRR Homo sapiens
Folate deficiency induced H2A ubiquitination to lead to downregulated expression of genes involved in neural tube defects Neural tube defect ChIP-seq and RNA-seq Embryo Embryonic stem cells MTX Mus musculus
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population Neural tube defect Next-generation sequencing Neural Others MUT Homo sapiens
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects Neural tube defect Double strand direct sequencing Blood Others NCAM1 Homo sapiens
Folate deficiency induced H2A ubiquitination to lead to downregulated expression of genes involved in neural tube defects Neural tube defect ChIP-seq and RNA-seq Embryo Embryonic stem cells NES Mus musculus
Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects Neural tube defect Genotyping by PCR Tail / Connective Tail biopsies/ Extraembryonic membranes NF1 Mus musculus
Genetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterning Neural tube defect Expression profiling by qPCR Embryo Embryonic fibroblasts NODAL Mus musculus
Identification of transcripts potentially involved in neural tube closure using RNA sequencing Neural tube defect RNA-seq Embryo Whole embryo NODAL Zebrafish
Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs) Neural tube defect Double strand direct sequencing NA NA NOG Homo sapiens
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly Neural tube defect Exome sequencin and sanger sequencing for validati Connective / Blood Fibroblast/Whole blood NOS2 Homo sapiens
Transcriptomic profile analysis of mouse neural tube development by RNA-Seq Neural tube defect RNA-seq Embryo Embryo neural tube OLIG2 Mus musculus
Accuracy, discriminative properties and reliability of a human ESC-based in vitro toxicity assay to distinguish teratogens responsible for neural tube defects Neural tube defect Expression profiling by qRT-PCR Embryo Embryonic stem cell OTX2 Homo sapiens
CBP/p300 and associated transcriptional co-activators exhibit distinct expression patterns during murine craniofacial and neural tube development Neural tube defect Expression profiling by in situ hybridization Embryo Others P300 Mus musculus
Expression of p53/HGF/c-met/STAT3 signal in fetuses with neural tube defects Neural tube defect Expression profiling by RT-PCR Fetus Others P53 Homo sapiens
Quantitative Measurement of PARD3 Copy Number Variations in Human Neural Tube Defects Neural tube defect Copy number variation (CNV) array and double stran Spinal cord Others PARD3 Homo sapiens
PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida Neural tube defect Double strand direct sequencing Blood Peripheral nucleated blood cells PAX1 Homo sapiens
Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbons Neural tube defect Methylation profiling by array Neural Others PAX3 Mus musculus / Homo sapiens
Folate deficiency induced H2A ubiquitination to lead to downregulated expression of genes involved in neural tube defects Neural tube defect ChIP-seq and RNA-seq Embryo Embryonic stem cells PAX6 Mus musculus
A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects Neural tube defect Exome sequencing Embryo Embryonic neural tube PCP Mus musculus
Identification of PCSK9 as a novel serum biomarker for the prenatal diagnosis of neural tube defects using iTRAQ quantitative proteomics Neural tube defect Expression profiling by ELISA and western blot Blood Serum PCSK9 Mus musculus
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly Neural tube defect Exome sequencin and sanger sequencing for validati Connective / Blood Fibroblast/Whole blood PDGFR? Homo sapiens
Plexin-B2, but not Plexin-B1, critically modulates neuronal migration and patterning of the developing nervous system in vivo Neural tube defect Expression profiling by RT-PCR Brain / Embryo Cerebellum/Embryonic stem cells PLXNB2 Mus musculus
A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects Neural tube defect Exome sequencing Embryo Embryonic neural tube PriCKLE1 Mus musculus
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly Neural tube defect Exome sequencin and sanger sequencing for validati Connective / Blood Fibroblast/Whole blood PRICKLE4 Homo sapiens
Association between PTCH1 polymorphisms and risk of neural tube defects in a Chinese population Neural tube defect SNP genotyping by SNP array and methylation profil Brain Others PTCH1 Homo sapiens
Digenic variants of planar cell polarity genes in human neural tube defect patients Neural tube defect Next-generation sequencing and sanger sequencing f Blood / Connective Cord blood/ Umbilical cord PTK7 Homo sapiens
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida Neural tube defect Whole genome sequencing Infant bloodspots Venous blood RAD9B Homo sapiens
Ectopic cross-talk between thyroid and retinoic acid signaling: A possible etiology for spinal neural tube defects Neural tube defect Expression profiling by ChIP assay Spinal cord Others RARB Mus musculus / Homo sapiens
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population Neural tube defect Next-generation sequencing Neural Others SARDH Homo sapiens
Digenic variants of planar cell polarity genes in human neural tube defect patients Neural tube defect Next-generation sequencing and sanger sequencing f Blood / Connective Cord blood/ Umbilical cord SCRIB Homo sapiens
Histone deacetylase inhibitor Trichostatin A induces neural tube defects and promotes neural crest specification in the chicken neural tube Neural tube defect Expression profiling by enzyme-linked immunosorben Fetus Amniotic fluid cells SHH Homo sapiens
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population Neural tube defect Next-generation sequencing Neural Others SHMT1 Homo sapiens
Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort Neural tube defect Next-generation sequencing and sanger sequencing f Blood Others SHROOM2 Homo sapiens
Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort Neural tube defect Next-generation sequencing and sanger sequencing f Blood Others SHROOM3 Homo sapiens
Shroom3 functions downstream of planar cell polarity to regulate myosin II distribution and cellular organization during neural tube closure Neural tube defect Genotyping by PCR Embryo Others SHROOM3 Mus musculus
Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts Neural tube defect SNP genotyping by SNP array Blood / Others Whole blood/buccal swab SLC46A1 Homo sapiens
Human transcription factor SLUG: mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region Neural tube defect Allele-specific sequencing Blood Leukocytes SLUG Homo sapiens
Elevated H3K79 homocysteinylation causes abnormal gene expression during neural development and subsequent neural tube defects Neural tube defect ChIP-seq and RNA-seq Brain Others SMARCA4 Homo sapiens
Histone deacetylase inhibitor Trichostatin A induces neural tube defects and promotes neural crest specification in the chicken neural tube Neural tube defect Expression profiling by enzyme-linked immunosorben Fetus Amniotic fluid cells SOX10 Homo sapiens
Isolation of Human Neural Stem Cells from the Amniotic Fluid with Diagnosed Neural Tube Defects Neural tube defect Expression profiling by qRT-PCR Fetus Amniotic fluid cells SOX2 Homo sapiens
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects Neural tube defect CGH microarray Fetus Amniocytes SOX3 Homo sapiens
Histone deacetylase inhibitor Trichostatin A induces neural tube defects and promotes neural crest specification in the chicken neural tube Neural tube defect Expression profiling by enzyme-linked immunosorben Fetus Amniotic fluid cells SOX9 Homo sapiens
Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development Neural tube defect Exome sequencing and sanger sequencing Neural Neural stem cells SP2 Homo sapiens
Expression of p53/HGF/c-met/STAT3 signal in fetuses with neural tube defects Neural tube defect Expression profiling by RT-PCR Fetus Others STAT3 Homo sapiens
An association study between SUFU gene polymorphisms and neural tube defects Neural tube defect SNP genotyping by SNP array Skin Others SUFU Homo sapiens
?-catenin regulates Pax3 and Cdx2 for caudal neural tube closure and elongation Neural tube defect Expression profiling by qRT-PCR Embryo Caudal neural folds TBX6 Mus musculus
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway Neural tube defect Exome sequencing and sanger sequencing for vadilat Blood Cord blood TCN2 Homo sapiens
Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice Neural tube defect RNA-seq Brain Others TCTN3 Mus musculus
Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study Neural tube defect SNP genotyping by SNP array Blood Blood spots TFAP2A Homo sapiens
TGF-?s and Smads activities at the site of failed neural tube in the human embryos Neural tube defect Expression profiling by immunohistochemistry Fetus Fetal neural TGF?3 Homo sapiens
Genetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterning Neural tube defect Expression profiling by qPCR Embryo Embryonic fibroblasts TGIFs Mus musculus
Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population Neural tube defect SNP genotyping by SNP array Blood NA TP53 Homo sapiens
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family Neural tube defect Exome sequencing and sanger sequencing for validat Blood / Fetus Peripheral blood/Amniotic fluid cells TRIM36 Homo sapiens
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly Neural tube defect Exome sequencing and sanger sequencing for validat Connective / Blood Fibroblast/Whole blood TXN2 Homo sapiens
Association between VANGL1 gene polymorphisms and neural tube defects Neural tube defect SNP genotyping by SNP array Blood Venous blood VANGL1 Homo sapiens
Syndecan 4 interacts genetically with Vangl2 to regulate neural tube closure and planar cell polarity Neural tube defect Genotyping by PCR Embryo Embryonic fibroblasts VANGL2 Mus musculus
Identification of transcripts potentially involved in neural tube closure using RNA sequencing Neural tube defect RNA-seq Embryo Whole embryo WNT Zebrafish
Shroom3 functions downstream of planar cell polarity to regulate myosin II distribution and cellular organization during neural tube closure Neural tube defect Genotyping by PCR Embryo Others WNT5A Mus musculus
Transcriptomic profile analysis of mouse neural tube development by RNA-Seq Neural tube defect RNA-seq Embryo Embryo neural tube WNT7B Mus musculus
Mouse Zic1 is involved in cerebellar development Neural tube defect Genotyping by PCR and southern blot Embryo Others ZIC1 Mus musculus
Zic2 regulates the kinetics of neurulation Neural tube defect Nucleotide sequencing Embryo Embryonic stem cells ZIC2 Mus musculus
A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects Neural tube defect Expression profiling by southern blot Toes / livers Others ZIC3 Mus musculus
A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects Neural tube defect Expression profiling by RT-PCR Brain Others ZIC3 Mus musculus
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome Anotia / Microtia Exome sequencing Lymphoid Lymphocyte CDC45 Homo sapiens
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome Anotia / Microtia Exome sequencing Lymphoid Lymphocyte CDC6 Homo sapiens
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome Anotia / Microtia Exome sequencing Lymphoid Lymphocyte CDT1 Homo sapiens
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients Anotia / Microtia Sanger sequencing Kidney / Salivary gland Urine/ Saliva EFTUD2 Homo sapiens
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia Anotia / Microtia Exome sequencing Blood Peripheral blood FGF3 Homo sapiens
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome Anotia / Microtia Exome sequencing Lymphoid Lymphocyte GMNN Homo sapiens
Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia Anotia / Microtia Exome sequencing Blood Peripheral blood GSC Homo sapiens
Understanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndrome Anotia / Microtia RNA-seq Embryo Others HOXA1 Porcus
Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia Anotia / Microtia Exome sequencing Blood Peripheral blood HOXA2 Homo sapiens
Mouse Hoxa2 mutations provide a model for microtia and auricle duplication Anotia / Microtia ChIP-Seq Embryo Second pharyngeal arch HOXA2 Mus musculus
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia Anotia / Microtia Sanger sequencing Blood Peripheral blood HSPA9 Homo sapiens
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome Anotia / Microtia Exome sequencing Lymphoid Lymphocyte MCM5 Homo sapiens
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome Anotia / Microtia Exome sequencing Lymphoid Lymphocyte ORC1 Homo sapiens
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome Anotia / Microtia Exome sequencing Lymphoid Lymphocyte ORC4 Homo sapiens
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome Anotia / Microtia Exome sequencing Lymphoid Lymphocyte ORC6 Homo sapiens
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients Anotia / Microtia Sanger sequencing Kidney / Salivary gland Urine/ Saliva POLR1D Homo sapiens
Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia Anotia / Microtia Exome sequencing Blood Peripheral blood PRKRA Homo sapiens
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients Anotia / Microtia Sanger sequencing Kidney / Salivary gland Urine/ Saliva TCOF1 Homo sapiens
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome Coarctation of the Aorta Exome sequencing Others Others ACT?2 Homo sapiens
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy Coarctation of the Aorta Sanger sequencing Blood / Salivary gland Whole blood/ Saliva BMP2 Homo sapiens
Effect of experimental hypertension on phosphoinositide hydrolysis and proto-oncogene expression in cardiovascular tissues Coarctation of the Aorta Expression profiling by hybridization Myocardial / aortic / mesenteric vessel Others CFOS Mus musculus
Effect of experimental hypertension on phosphoinositide hydrolysis and proto-oncogene expression in cardiovascular tissues Coarctation of the Aorta Expression profiling by hybridization Myocardial / aortic / mesenteric vessel Others CMYC Mus musculus
Combined cardiological and neurological abnormalities due to filamin A gene mutation Coarctation of the Aorta Exome sequencing Blood Leukocytes FLNA Homo sapiens
Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children Coarctation of the Aorta Genotyping by PCR Blood Peripheral blood GATA4 Homo sapiens
Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve Coarctation of the Aorta Sanger sequencing Blood / Salivary gland Others/ Saliva GATA5 Homo sapiens
Effect of experimental hypertension on phosphoinositide hydrolysis and proto-oncogene expression in cardiovascular tissues Coarctation of the Aorta Expression profiling by hybridization Myocardial / aortic / mesenteric vessel Others HRAS Mus musculus
Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome Coarctation of the Aorta Genome variation profiling by SSCP array Blood Leukocytes JAG1 Homo sapiens
Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children Coarctation of the Aorta Genotyping by PCR Blood Peripheral blood NKX2-5 Homo sapiens
Variants in the NOTCH1 gene in patients with aortic coarctation Coarctation of the Aorta Exome sequencing Blood Peripheral blood NOTCH1 Homo sapiens
PTPN11 mutations play a minor role in isolated congenital heart disease Coarctation of the Aorta DHPLC Blood Leukocytes PTPN11 Homo sapiens
Transforming growth factor-beta signaling in hypertensive remodeling of porcine aorta Coarctation of the Aorta Expression profiling by qRT-PCR and microarray Aortic arch Others SMAD1 Porcus
Transforming growth factor-beta signaling in hypertensive remodeling of porcine aorta Coarctation of the Aorta Expression profiling by qRT-PCR and microarray Aortic arch Others SMAD2 Porcus
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome Coarctation of the Aorta Exome sequencing Others Others SMAD4 Homo sapiens
Transforming growth factor-beta signaling in hypertensive remodeling of porcine aorta Coarctation of the Aorta Expression profiling by qRT-PCR and microarray Aortic arch Others SMAD5 Porcus
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy Coarctation of the Aorta Sanger sequencing Blood / Salivary gland Whole blood/ Saliva SMAD6 Homo sapiens
Transforming growth factor-beta signaling in hypertensive remodeling of porcine aorta Coarctation of the Aorta Expression profiling by qRT-PCR and microarray Aortic arch Others SMAD8 Porcus
Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children Coarctation of the Aorta Genotyping by PCR Blood Peripheral blood TBX5 Homo sapiens
Transforming growth factor-beta signaling in hypertensive remodeling of porcine aorta Coarctation of the Aorta Expression profiling by qRT-PCR and microarray Aortic arch Others TGF?2 Porcus
Transforming growth factor-beta signaling in hypertensive remodeling of porcine aorta Coarctation of the Aorta Expression profiling by qRT-PCR and microarray Aortic arch Others TGF?3 Porcus
Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas Coarctation of the Aorta Exome sequencing Others Others WDPCP Homo sapiens
Familial transposition of the great arteries caused by multiple mutations in laterality genes D-Transposition of the Great Arteries Genotyped by direct sequencing Others Others ACVR2B Homo sapiens
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects D-Transposition of the Great Arteries CGH array Blood Blood spots BMPR1A Homo sapiens
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle D-Transposition of the Great Arteries Genome variation profiling by SSCP array Blood Whole blood CFC1 Homo sapiens
Familial transposition of the great arteries caused by multiple mutations in laterality genes D-Transposition of the Great Arteries Genotyped by direct sequencing Others Others CRELD1 Homo sapiens
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects D-Transposition of the Great Arteries DHPLC and genotyping by PCR Blood Others CRELD2 Homo sapiens
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects D-Transposition of the Great Arteries CGH array Blood Blood spots CRKL Homo sapiens
Familial transposition of the great arteries caused by multiple mutations in laterality genes D-Transposition of the Great Arteries Genotyped by direct sequencing Others Others FOXH1 Homo sapiens
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects D-Transposition of the Great Arteries CGH array Blood Blood spots GATA4 Homo sapiens
Familial transposition of the great arteries caused by multiple mutations in laterality genes D-Transposition of the Great Arteries Genotyped by direct sequencing Others Others GDF1 Homo sapiens
Familial transposition of the great arteries caused by multiple mutations in laterality genes D-Transposition of the Great Arteries Genotyped by direct sequencing Others Others LEFTYA Homo sapiens
NKX2.5 mutations in patients with congenital heart disease D-Transposition of the Great Arteries Double-strand direct sequencing Blood / Lymphoid Whole blood/ Lymphoblast NKX2.5 Homo sapiens
Familial transposition of the great arteries caused by multiple mutations in laterality genes D-Transposition of the Great Arteries Genotyped by direct sequencing Others Others NODAL Homo sapiens
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects D-Transposition of the Great Arteries CGH array Blood Blood spots SNAI2 Homo sapiens
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects D-Transposition of the Great Arteries CGH array Blood Blood spots ZFHX4 Homo sapiens
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle D-Transposition of the Great Arteries Exome sequencing Blood Venous blood ZIC3 Homo sapiens
Metabolic disturbances of the vitamin A pathway in human diaphragmatic hernia Diaphragmatic Hernia Expression profiling by qRT-PCR Others A549 cell line ALDH1A2 Homo sapiens
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Others Others ARID1B Homo sapiens
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome Diaphragmatic Hernia Sanger sequencing Blood Leukocytes COL3?1 Homo sapiens
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Fetus Others CTBP2 Homo sapiens
Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosi Diaphragmatic Hernia Double-strand direct sequencing Others Others DLL3 Homo sapiens
Homozygous DMRT2 variant associates with severe rib malformations in a newborn Diaphragmatic Hernia Exome Sequencing Blood Others DMRT2 Homo sapiens
Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia Diaphragmatic Hernia CGH array Fetus Amniotic fluid cells EFNB1 Homo sapiens
Perturbations to lysyl oxidase expression broadly influence the transcriptome of lung fibroblasts Diaphragmatic Hernia Expression profiling by qRT-PCR and DNA microarray Connective Fibroblast ELN Mus musculus
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Fetus Others EYA1 Homo sapiens
Fibrillin-1 Expression Is Decreased in the Diaphragmatic Muscle Connective Tissue of Nitrofen-Induced Congenital Diaphragmatic Hernia Diaphragmatic Hernia Expression profiling by qPCR Fetus Others FBN1 Mus musculus
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype Diaphragmatic Hernia Exome sequencing Blood Others FBN1 Homo sapiens
Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects Diaphragmatic Hernia RNA-seq Embryo Others FGFR2 Mus musculus
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia Diaphragmatic Hernia Exome sequencing, sanger sequencing for validation Blood / Lymphoid Whole blood/Lymphoblast FRAS1/ FREM1 Homo sapiens
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia Diaphragmatic Hernia Exome sequencing, sanger sequencing for validation Blood / Lymphoid Whole blood/Lymphoblast FREM2 Homo sapiens
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Fetus Others GATA4 Homo sapiens
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Fetus Others GATA5 Homo sapiens
A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature Diaphragmatic Hernia Exome sequencing Blood Others GATA6 Homo sapiens
Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway Diaphragmatic Hernia Expression profiling by immunohistochemistry Embryo Others GLI2 Mus musculus
Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway Diaphragmatic Hernia Expression profiling by immunohistochemistry Embryo Others GLI3 Mus musculus
Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome Diaphragmatic Hernia Sanger sequencing Fetus Others GPC3 Homo sapiens
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus Diaphragmatic Hernia Sanger sequencing Others Others HES7 Mus musculus
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia Diaphragmatic Hernia Exome sequencing and sanger sequencing for validat Connective / Blood Fibroblasts/ Whole blood HLX Homo sapiens
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Fetus Others LBR Homo sapiens
Identification of novel LFNG mutations in spondylocostal dysostosis Diaphragmatic Hernia Exome Sequencing Blood Leukocytes LFNG Homo sapiens
Perturbations to lysyl oxidase expression broadly influence the transcriptome of lung fibroblasts Diaphragmatic Hernia Expression profiling by qRT-PCR and DNA microarray Connective Fibroblast LOX Mus musculus
Perturbations to lysyl oxidase expression broadly influence the transcriptome of lung fibroblasts Diaphragmatic Hernia Expression profiling by qRT-PCR and DNA microarray Connective Fibroblast LOXL1 Mus musculus
Perturbations to lysyl oxidase expression broadly influence the transcriptome of lung fibroblasts Diaphragmatic Hernia Expression profiling by qRT-PCR and DNA microarray Connective Fibroblast LOXL2 Mus musculus
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature Diaphragmatic Hernia Sanger sequencing Blood Whole blood LRP2 Homo sapiens
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development Diaphragmatic Hernia Double-strand direct sequencing Connective / Blood Fibroblasts/ Peripheral blood LTBP4 Homo sapiens
Mutated MESP2 causes spondylocostal dysostosis in humans Diaphragmatic Hernia Direct nucleotide sequencing Blood Others MESP2 Homo sapiens
Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis Diaphragmatic Hernia Expression profiling by In-situ hybridization Fetus Others MESP2 Mus musculus
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Fetus Others MMP14 Homo sapiens
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Fetus Others MYOD1 Homo sapiens
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders Diaphragmatic Hernia Whole-genomesequencing and exome sequencing/RNA-se Blood / Salivary gland / Connective Others, Saliva/ Fibroblast MYRF Homo sapiens
Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation Diaphragmatic Hernia DHPLC Blood Others NIPBL Homo sapiens
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Fetus Others NR2F2 Homo sapiens
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Fetus Others NSD1 Homo sapiens
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Fetus Others PBX1 Homo sapiens
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome Diaphragmatic Hernia Exome sequencing Fetus / Blood Amniotic fluid cells/Others PIGN Homo sapiens
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Others Others PORCN Homo sapiens
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia Diaphragmatic Hernia Exome sequencing Blood Others RAR? Homo sapiens
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects Diaphragmatic Hernia Exome Sequencing Blood Peripheral blood mononuclear cell RIPPLY2 Homo sapiens
MiR-130a-5p/Foxa2 axis modulates fetal lung development in congenital diaphragmatic hernia by activating the Shh/Gli1 signaling pathway Diaphragmatic Hernia Expression profiling by qRT-PCR Lung Others SHH Homo sapiens
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome Diaphragmatic Hernia Sanger sequencing Blood Others SLC2A10 Homo sapiens
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum Diaphragmatic Hernia Next generation sequencing Blood Others SMC1A Homo sapiens
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes Diaphragmatic Hernia Exome sequencing Blood Leukocytes SMC3 Homo sapiens
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria? Diaphragmatic Hernia Double-strand direct sequencing Blood Leukocytes STRA6 Homo sapiens
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Fetus Others TBX1 Homo sapiens
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing Diaphragmatic Hernia Whole genome sequencing, exome sequencing, and san Fetus Others TBX5 Homo sapiens
TBX6 null variants and a common hypomorphic allele in congenital scoliosis Diaphragmatic Hernia Double-strand direct sequencing Others Others TBX6 Homo sapiens
Altered expression of angiotensin II receptor subtypes and transforming growth factor-beta in the heart of nitrofen-induced diaphragmatic hernia in rats Diaphragmatic Hernia Expression profiling by RT-PCR Heart Others TGF?R2 Mus musculus
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype Diaphragmatic Hernia Exome sequencing Blood Others TRPS1 Homo sapiens
Expression of the Wilm's tumor gene WT1 during diaphragmatic development in the nitrofen model for congenital diaphragmatic hernia Diaphragmatic Hernia Expression profiling by qRT-PCR Embryo Others WT1 Mus musculus
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia Diaphragmatic Hernia Exome sequencing and sanger sequencing Blood Whole blood ZFPM2 Homo sapiens
BMP antagonism by Noggin is required in presumptive notochord cells for mammalian foregut morphogenesis Esophageal Atresia Expression profiling by qRT-PCR Embryo Others CDH1 Mus musculus
De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models Esophageal Atresia Next generation sequencing and sanger sequencing f Blood Whole blood CHD7 Homo sapiens
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations Esophageal Atresia Exome sequencing, and sanger sequencing for valida blood / buccal smear / Kidney Others/ buccal cell/ urine EFTUD2 Homo sapiens
Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing Esophageal Atresia Next generation sequencing and sanger sequencing f Blood Leukocytes FANCA Homo sapiens
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association Esophageal Atresia Double-strand direct sequencing Blood Peripheral blood FANCB Homo sapiens
Impaired FGF10 Signaling and Epithelial Development in Experimental Lung Hypoplasia With Esophageal Atresia Esophageal Atresia Expression profiling by qPCR Lung Others FGF10 Mus musculus
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies Esophageal Atresia Direct automated sequencing Blood / Salivary gland Others/ Saliva FGF8 Homo sapiens
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association Esophageal Atresia Direct automated sequencing Blood / Salivary gland Others/ Saliva FGFR2 Homo sapiens
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association Esophageal Atresia Double-strand direct sequencing Blood Peripheral blood FOXF1 Homo sapiens
Normal exon copy number of the GLI2 and GLI3 genes in patients with esophageal atresia Esophageal Atresia Exome sequencing Lymphoid Lymphocyte GLI2 Homo sapiens
De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models Esophageal Atresia Next generation sequencing and sanger sequencing f Blood Whole blood GLI3 Homo sapiens
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association Esophageal Atresia Direct automated sequencing Blood / Salivary gland Others/ Saliva GPR35 Homo sapiens
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association Esophageal Atresia Double-strand direct sequencing Blood Peripheral blood HOXD13 Homo sapiens
Changes in serum procalcitonin, interleukin 6, interleukin 8 and C-reactive protein in neonates after surgery Esophageal Atresia Expression profiling by immunoluminometry assay Blood Leukocytes IL6 Homo sapiens
Changes in serum procalcitonin, interleukin 6, interleukin 8 and C-reactive protein in neonates after surgery Esophageal Atresia Expression profiling by immunoluminometry assay Blood Leukocytes IL8 Homo sapiens
De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models Esophageal Atresia Next generation sequencing and sanger sequencing f Blood Whole blood MYCN Homo sapiens
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association Esophageal Atresia Double-strand direct sequencing Blood Peripheral blood PCSK5 Homo sapiens
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association Esophageal Atresia Direct automated sequencing Blood / Salivary gland Others/ Saliva PLEC Homo sapiens
De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models Esophageal Atresia Next generation sequencing and sanger sequencing f Blood Whole blood PTEN Homo sapiens
Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene Esophageal Atresia CGH microarray Blood Whole blood SHH Homo sapiens
De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models Esophageal Atresia Next generation sequencing and sanger sequencing f Blood Whole blood SOX2 Homo sapiens
Altered Tbx1 gene expression is associated with abnormal oesophageal development in the adriamycin mouse model of oesophageal atresia/tracheo-oesophageal fistula Esophageal Atresia Expression profiling by In-situ hybridization Embryo Others TBX1 Mus musculus
Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects Esophageal Atresia Direct automated sequencing Lymphoid Lymphocyte ZIC3 Homo sapiens
Gene variants as risk factors for gastroschisis Gastroschisis SNP genotyping by SNP array Blood Blood spots ADD1 Homo sapiens
AEBP1 gene variants in infants with gastroschisis Gastroschisis Exome sequencing Blood Blood spots AEBP1 Homo sapiens
Mutational analysis of the BMP-1 gene in patients with gastroschisis Gastroschisis Exome sequencing Blood Peripheral blood BMP1 Homo sapiens
Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk Gastroschisis SNP genotyping by SNP array Buccal smear Buccal cells CYP1A1 Homo sapiens
Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk Gastroschisis SNP genotyping by SNP array Buccal smear Buccal cells CYP1A2 Homo sapiens
Effects of MTHFR c.677C>T, F2 c.20210G>A and F5 Leiden Polymorphisms in Gastroschisis Gastroschisis Genotyping by PCR Abdominal wall / blood Others/peripheral blood F2 Homo sapiens
Effects of MTHFR c.677C>T, F2 c.20210G>A and F5 Leiden Polymorphisms in Gastroschisis Gastroschisis Genotyping by PCR Abdominal wall / blood Others/peripheral blood F5 Homo sapiens
Gene variants as risk factors for gastroschisis Gastroschisis SNP genotyping by SNP array Blood Blood spots ICAM1 Homo sapiens
Gene variants as risk factors for gastroschisis Gastroschisis SNP genotyping by SNP array Blood Blood spots ICAM4 Homo sapiens
Gene variants as risk factors for gastroschisis Gastroschisis SNP genotyping by SNP array Blood Blood spots ICAM5 Homo sapiens
Corticosteroid effect upon intestinal and hepatic interleukin profile in a gastroschisis rat model Gastroschisis Expression profiling by immunoprecipitation and EL Fetus Amniotic fluid cell IL6 Homo sapiens
Can levels of interleukins and matrix metalloproteinases in the amniotic fluid predict postnatal bowel function in fetuses with gastroschisis? Gastroschisis Expression profiling by matrix metalloproteinase a Fetus Amniotic fluid cell MMP1 Homo sapiens
Effects of MTHFR c.677C>T, F2 c.20210G>A and F5 Leiden Polymorphisms in Gastroschisis Gastroschisis Genotyping by PCR Abdominal wall / blood Others/peripheral blood MTHFR Homo sapiens
Gene variants as risk factors for gastroschisis Gastroschisis SNP genotyping by SNP array Blood Blood spots NOS3 Homo sapiens
Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis Gastroschisis SNP genotyping by SNP array Blood Blood spots NPPA Homo sapiens
Transforming growth factor-beta 3 alters intestinal smooth muscle function: implications for gastroschisis-related intestinal dysfunction Gastroschisis Expression profiling by qRT-PCR Intestine Others TGF?3 Homo sapiens
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation Microcephaly Exome sequencing Blood Leucocytes ARFGEF2 Homo sapiens
Autosomal recessive primary microcephaly due to ASPM mutations: an update Microcephaly Sanger Sequencing / Next Generation Sequencing Blood Leucocytes ASPM Homo sapiens
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities Microcephaly Exome sequencing Blood Others CRIPT Homo sapiens
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures Microcephaly Exome sequencing Blood Leucocytes DIAPH1 Homo sapiens
Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON Microcephaly Sanger Sequencing Blood Peripheral Blood DONSON Homo sapiens
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features Microcephaly Exome sequencing Blood Peripheral Blood DYNC1I2 Homo sapiens
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia Microcephaly Exome sequencing Blood Leucocytes GPT2 Homo sapiens
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder Microcephaly Sanger Sequencing Blood Peripheral blood IER3IP1 Homo sapiens
KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability Microcephaly Chromosome microarray Blood Leucocytes KIF11 Homo sapiens
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features Microcephaly NA Blood Peripheral blood MBD5 Homo sapiens
Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review Microcephaly Sanger Sequencing Blood Peripheral blood NDE1 Homo sapiens
Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review Microcephaly Sanger Sequencing Blood Peripheral blood mononuclear cells NHEJ1 Homo sapiens
Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis Microcephaly Exome sequencing Blood Peripheral blood PHC1 Homo sapiens
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations Microcephaly Next Generation Sequencing / Exome sequencing Blood Leucocytes PNKP Homo sapiens
A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1 Microcephaly Bidirectional sequencing Blood Peripheral blood RBBP8 Homo sapiens
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly Microcephaly Exome sequencing Blood Others RNU4ATAC Homo sapiens
A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder Microcephaly Exome sequencing Blood Peripheral Blood SLC1A4 Homo sapiens
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly Microcephaly Exome sequencing Blood Others TRAPPC9 Homo sapiens
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy Microcephaly Sanger Sequencing Blood Others TRMT10A Homo sapiens
Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant Microcephaly Sanger Sequencing Blood Others TUBA1A Homo sapiens
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature Microcephaly Exome sequencing Blood Peripheral blood WDR62 Homo sapiens
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation Microcephaly Exome sequencing Blood / lymphoid Whole blood/ lymphoblast TRIP13 Homo sapiens
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly Microcephaly Exome sequencing Connective Fibroblast ANKLE2 Homo sapiens
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies Microcephaly Exome sequencing Connective Fibroblast ARNT2 Homo sapiens
Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly Microcephaly Sanger Sequencing / Exome sequencing Connective Fibroblast ASNS Homo sapiens
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy Microcephaly Exome sequencing Connective Fibroblast PLK4 Homo sapiens
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy Microcephaly Exome sequencing Connective Fibroblast PYCR2 Homo sapiens
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome Microcephaly Expression profiling by immunofluorescence Connective Fibroblast SLC9A6 Homo sapiens
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features Microcephaly Exome sequencing Connective Fibroblast TRAPPC6B Homo sapiens
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy Microcephaly Exome sequencing Connective / lymphoid Fibroblast/ lymphoblast TBCD Homo sapiens
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features Microcephaly Exome sequencing Embryo Embryonic stem cells BPTF Zebrafish
CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination Microcephaly Expression profiling by immunofluorescence Gonadal Testis CEP63 Mus musculus
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation Microcephaly Exome sequencing Lymphoid Lymphocytes KATNB1 Homo sapiens
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis Microcephaly Exome sequencing Lymphoid Lymphocytes KIF14 Homo sapiens
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability Microcephaly Exome sequencing Lymphoid Lymphoblast PPP1R15B Homo sapiens
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly Microcephaly Exome sequencing Lymphoid Lymphoblastoid PUS7 Homo sapiens
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome Microcephaly Exome sequencing Lymphoid Lymphoblastoid STAMBP Homo sapiens
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability Microcephaly Exome sequencing Lymphoid Lymphocytes XRCC4 Homo sapiens
Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse Microcephaly Sanger Sequencing / RNA Sequencing Mouse tails / yolk sacs Blastocysts Eftud2 Mus musculus
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy Microcephaly Exome sequencing Others Human embryonic kidney (HEK-293) cells CASK Homo sapiens
A new association between CDK5RAP2 microcephaly and congenital cataracts Microcephaly Sanger Sequencing / Next Generation Sequencing / Others Others CDK5RAP2 Homo sapiens
D40/KNL1/CASC5 and Autosomal Recessive Primary Microcephaly Microcephaly Sanger Sequencing / DNA microarray Others Cancer cell lines D40 Homo sapiens
D40/KNL1/CASC5 and Autosomal Recessive Primary Microcephaly Microcephaly Sanger Sequencing / DNA microarray Others Cancer cell lines KNL1 Homo sapiens
D40/KNL1/CASC5 and Autosomal Recessive Primary Microcephaly Microcephaly Sanger Sequencing / DNA microarray Others Cancer cell lines CASC5 Homo sapiens
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination Microcephaly Sanger Sequencing / Exome sequencing Others HEK293T MFSD2A Homo sapiens
In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells Microcephaly Exome sequencing Others Others Pqbp1 Mus musculus
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42 Microcephaly Exome sequencing / Sanger Sequencing Others HEK293T RTTN Homo sapiens
Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles Microcephaly Genomic DNA Sequencing Others HEK293T STIL Homo sapiens
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly Microcephaly Exome sequencing Skin Keratinocyte cell line CDK6 Homo sapiens
A novel homozygous splice-site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report Microcephaly Sanger Sequencing Skin Others NCAPD2 Homo sapiens
Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly Microcephaly Exome sequencing Skin / blood Others/ Leucocytes SASS6 Homo sapiens
Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly Microcephaly RNA-Seq Tails for mouse / embryo for human Others/ Yolk MCPH1 Mus musculus / Homo sapiens
Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly Microcephaly RNA-Seq Tails for mouse / embryo for human Others/ Yolk GRP75 Mus musculus / Homo sapiens
A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani famil Microcephaly Sanger Sequencing / Exome sequencing Transfected HEK293T HEK293T CEP135 Homo sapiens
Genotype-phenotype Correlation and Identification of Two Novel SRD5A2 Mutations in 33 Chinese Patients With Hypospadias Hypospadias Sanger sequencing Blood Peripheral blood AR Homo sapiens
Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism Hypospadias Sanger sequencing Lymphoid Lymphocytes AR Canis (Dog)
Hypospadias and Genes Related to Genital Tubercle and Early Urethral Development Hypospadias Expression profiling by SNP array Blood Blood spots BMP7 Homo sapiens
Molecular Basis of Non-Syndromic Hypospadias: Systematic Mutation Screening and Genome-Wide Copy-Number Analysis of 62 Patients Hypospadias Sanger sequencing Others Others BNC2 Homo sapiens
Molecular Basis of Non-Syndromic Hypospadias: Systematic Mutation Screening and Genome-Wide Copy-Number Analysis of 62 Patients Hypospadias Sanger sequencing Others Others BNC2 Homo sapiens
A Novel Homozygous Mutation in CYP11A1 Gene Is Associated With Late-Onset Adrenal Insufficiency and Hypospadias in a 46,XY Patient Hypospadias Direct automated sequencing Blood Leucocytes CYP11A1 Homo sapiens
Interaction Between CYP1A1/CYP17A1 Polymorphisms and Parental Risk Factors in the Risk of Hypospadias in a Chinese Population Hypospadias Expression profiling by SNP array Epithelial tissue / Salivary gland Oral epithelial cells/ saliva CYP17A1 Homo sapiens
Interaction Between CYP1A1/CYP17A1 Polymorphisms and Parental Risk Factors in the Risk of Hypospadias in a Chinese Population Hypospadias Expression profiling by SNP array Epithelial tissue / Salivary gland Oral epithelial cells/ saliva CYP1A1 Homo sapiens
Hypospadias and Genes Related to Genital Tubercle and Early Urethral Development Hypospadias Expression profiling by SNP array Blood Blood spots FGF10 Homo sapiens
FGFR2, FGF8, FGF10 and BMP7 as Candidate Genes for Hypospadias Hypospadias Double-strand direct sequencing Blood Others FGF8 Homo sapiens
FGFR2, FGF8, FGF10 and BMP7 as Candidate Genes for Hypospadias Hypospadias Double-strand direct sequencing Blood Others FGFR2 Homo sapiens
Familial Forms of Disorders of Sex Development May Be Common if Infertility Is Considered a Comorbidity Hypospadias Genomic sequencing Blood Leucocytes GATA4 Homo sapiens
Hypospadias and Genes Related to Genital Tubercle and Early Urethral Development Hypospadias Expression profiling by SNP array Blood Blood spots GLI Homo sapiens
Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias Hypospadias Direct automated sequencing Blood Leucocytes HOXA13 Homo sapiens
Association of Hypospadias With Hypoplastic Synpolydactyly and Role of HOXD13 Gene Mutations Hypospadias Cycle sequencing Lymphoid Lymphocytes HOXD13 Homo sapiens
Genotype-phenotype Correlation and Identification of Two Novel SRD5A2 Mutations in 33 Chinese Patients With Hypospadias Hypospadias Sanger sequencing Blood Peripheral blood HSD17B3 Homo sapiens
The Valine Allele of the V89L Polymorphism in the 5-alpha-reductase Gene Confers a Reduced Risk for Hypospadias Hypospadias Double-strand direct sequencing Blood / Skin Peripheral blood/ penile skin HSD17B3 Homo sapiens
Identification by array-Comparative Genomic Hybridization (array-CGH) of a Large Deletion of Luteinizing Hormone Receptor Gene Combined With a Missense Mutation in a Patient Diagnosed With a 46,XY Disorder of Sex Development and Application to Prenatal Diagnosis Hypospadias Expression profiling by CGH and SNP array Blood Peripheral blood LHCGR Homo sapiens
Association of MAMLD1 Single-Nucleotide Polymorphisms With Hypospadias in Chinese Han Population Hypospadias Expression profiling by SNP array Blood / Skin Peripheral blood/ foreskin MAMLD1 Homo sapiens
Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism Hypospadias Sanger sequencing Lymphoid Lymphocytes MAMLD1 Canis (Dog)
Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome Hypospadias Sanger sequencing Lymphoid / Salivary gland Lymphocytes/ Saliva MID1 Homo sapiens
Recurrent Intragenic Duplication Within the NR5A1 Gene and Severe Proximal Hypospadias Hypospadias Sanger sequencing Blood Whole blood NR5A1 Homo sapiens
Hypospadias and Genes Related to Genital Tubercle and Early Urethral Development Hypospadias Expression profiling by SNP array Blood Blood spots SHH Homo sapiens
MiR-145-modulated SOX9-mediated Hypospadias Through Acting on Mitogen-Activated Protein Kinase Signaling Pathway Hypospadias Expression profiling by chip analysis Hypospadias / preputial tissues Spermatogonial stem cells SOX9 Homo sapiens
Mutations in SPECC1L, Encoding Sperm Antigen With Calponin Homology and Coiled-Coil Domains 1-like, Are Found in Some Cases of Autosomal Dominant Opitz G/BBB Syndrome Hypospadias Exome sequencing Lymphoid Lymphocytes SPECC1L Homo sapiens
Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism Hypospadias Sanger sequencing Lymphoid Lymphocytes SRD5A2 Canis (Dog)
Genotype-phenotype Correlation and Identification of Two Novel SRD5A2 Mutations in 33 Chinese Patients With Hypospadias Hypospadias Sanger sequencing Blood Peripheral blood SRD5?2 Homo sapiens
Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism Hypospadias Sanger sequencing Lymphoid Lymphocytes SRY Canis (Dog)
Hypospadias and Genes Related to Genital Tubercle and Early Urethral Development Hypospadias Expression profiling by SNP array Blood Blood spots WT1 Homo sapiens
Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias Hypospadias Direct automated sequencing Blood Leucocytes WTAP Homo sapiens
Elsahy-Waters Syndrome Is Caused by Biallelic Mutations in CDH11 Hypospadias Exome sequencing Blood Venous blood CHD11 Homo sapiens
Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated With Ambiguous Genitalia Hypospadias Whole genome sequencing Lymphoid Lymphocytes NR0B1 Homo sapiens
The Role of Genetic Variation in DGKK on Moderate and Severe Hypospadias Hypospadias Expression profiling by SNP array Preputial tissues Others DGKK Homo sapiens
A Genome-Wide Association Study of Cleft Lip With and Without Cleft Palate Identifies Risk Variants Near MAFB and ABCA4 Cleft Lip GWAS Others Others MAFB Homo sapiens
A Genome-Wide Association Study of Cleft Lip With and Without Cleft Palate Identifies Risk Variants Near MAFB and ABCA4 Cleft Lip GWAS Others Others ABCA4 Homo sapiens
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes KIF7 Homo sapiens
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes TCEB3 Homo sapiens
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes SPRY1 Homo sapiens
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes SHH Homo sapiens
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes TBX10 Homo sapiens
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes MSX2 Homo sapiens
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes PRSS35 Homo sapiens
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes WNT11 Homo sapiens
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes DVL2 Homo sapiens
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes KIF7 Homo sapiens
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes JAG2 Homo sapiens
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes AXIN2 Homo sapiens
A Multicentric Association Study Between 39 Genes and Nonsyndromic Cleft Lip and Palate in a Brazilian Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes PAX9 Homo sapiens
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals Cleft Lip GWAS Others Others GTHL3 Homo sapiens
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals Cleft Lip GWAS Others Others ARHGAP29 Homo sapiens
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals Cleft Lip GWAS Others Others CAPSL Homo sapiens
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals Cleft Lip GWAS Others Others SHROOM3 Homo sapiens
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals Cleft Lip GWAS Others Others SKP2 Homo sapiens
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals Cleft Lip GWAS Others Others DCAF4L2 Homo sapiens
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals Cleft Lip GWAS Others Others FOXE1 Homo sapiens
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals Cleft Lip GWAS Others Others DCAF4L2 Homo sapiens
A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals Cleft Lip GWAS Others Others FAM49A Homo sapiens
Analysis of the HapMap Data on SNPs in SUMO1 and Association Study of rs7599810 in Trios With Non-Syndromic Cleft Lip With or Without Cleft Palate Cleft Lip SNP genotyping by SNP array Blood Peripheral Blood SUMO1 Homo sapiens
Apert Syndrome Results From Localized Mutations of FGFR2 and Is Allelic With Crouzon Syndrome Cleft Lip Expression profiling by RT-PCR Blood Venous Blood FGFR2 Homo sapiens
Association Between TGFB3 and Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chilean Population Cleft Lip SNP genotyping by SNP array Lymphoid Peripheral Blood Lymphocytes TGFB3 Homo sapiens
Association of MSX1 c.*6C > T Variant with Nonsyndromic Cleft Lip With or Without Cleft Palate in Turkish Patients Cleft Lip Double strand direct sequencing Blood Cord Blood MSX1 Homo sapiens
Association of the WNT3 Polymorphisms and Non-Syndromic Cleft Lip With or Without Cleft Palate: Evidence From a Meta-Analysis Cleft Lip NO Others Others WNT3 Homo sapiens
Cleft lip/palate and CDH1/E? cadherin mutations in families with hereditary diffuse gastric cancer Cleft Lip Expression profiling by RT-PCR Blood Peripheral Blood CDH1 Homo sapiens
Clinical and Genetic Characterization of Frontorhiny: Report of 3 Novel Cases and Discussion of the Surgical Management Cleft Lip Molecular genetic analysis Lymphoid Lymphocyte ALX3 Homo sapiens
Deletion of KDM6A, a Histone Demethylase Interacting With MLL2, in Three Patients With Kabuki Syndrome Cleft Lip Sanger sequencing, array CGH analysis Others Others KDM6A Homo sapiens
DLX4 Is Associated With Orofacial Clefting and Abnormal Jaw Development Cleft Lip Sanger sequencing Blood Venous Blood DLX4 Homo sapiens
Effects of Phenytoin on Satb2 and Hoxa2 Gene Expressions in Mouse Embryonic Craniofacial Tissue Cleft Lip Expression profiling by RT-PCR Brain Cerebral Cortex Hoxa2 Mus musculus
Effects of Phenytoin on Satb2 and Hoxa2 Gene Expressions in Mouse Embryonic Craniofacial Tissue Cleft Lip Expression profiling by RT-PCR Brain Cerebral Cortex Satb2 Mus musculus
Exploring the Interaction Between FGF Genes and T-box Genes Among Chinese Nonsyndromic Cleft Lip With or Without Cleft Palate Case-Parent Trios Cleft Lip GWAS,SNP genotyping by SNP array Blood / Salivary Gland Whole Blood?Saliva FGF10 Homo sapiens
Exploring the Interaction Between FGF Genes and T-box Genes Among Chinese Nonsyndromic Cleft Lip With or Without Cleft Palate Case-Parent Trios Cleft Lip GWAS,SNP genotyping by SNP array Blood / Salivary Gland Whole Blood?Saliva TBX5 Homo sapiens
Exploring the Interaction Between FGF Genes and T-box Genes Among Chinese Nonsyndromic Cleft Lip With or Without Cleft Palate Case-Parent Trios Cleft Lip GWAS,SNP genotyping by SNP array Blood / Salivary Gland Whole Blood?Saliva FGFR2 Homo sapiens
Gene-gene Interaction Between MSX1 and TP63 in Asian Case-Parent Trios With Nonsyndromic Cleft Lip With or Without Cleft Palate Cleft Lip SNP genotyping by SNP array Blood Peripheral Blood MSX1 Homo sapiens
Genetic Risk Factors for Orofacial Clefts in Central Africans and Southeast Asians Cleft Lip GWAS Blood Whole Blood VAX1 Homo sapiens
Genome-wide Analyses of Non-Syndromic Cleft Lip With Palate Identify 14 Novel Loci and Genetic Heterogeneity Cleft Lip GWAS,Genome variation profiling by SNP array Blood Venous Blood FGFR1 Homo sapiens
Hay– Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63 Cleft Lip Double strand direct sequencing Maternal uterine Placenta TP63 Homo sapiens
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing Cleft Lip GWAS,genome-wide linkage Others Others PAX7 Homo sapiens
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing Cleft Lip GWAS,genome-wide linkage Others Others ARHGAP29 Homo sapiens
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing Cleft Lip GWAS,genome-wide linkage Others Others IRF6 Homo sapiens
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing Cleft Lip GWAS,genome-wide linkage Others Others VAX1 Homo sapiens
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing Cleft Lip GWAS,genome-wide linkage Others Others NTN1 Homo sapiens
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing Cleft Lip GWAS,genome-wide linkage Others Others NOG Homo sapiens
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing Cleft Lip GWAS,genome-wide linkage Others Others MAFB Homo sapiens
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing Cleft Lip GWAS,genome-wide linkage Others Others FOXE1 Homo sapiens
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing Cleft Lip GWAS,genome-wide linkage Others Others MSX1 Homo sapiens
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing Cleft Lip GWAS,genome-wide linkage Others Others BMP4 Homo sapiens
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing Cleft Lip GWAS,genome-wide linkage Others Others FGFR2 Homo sapiens
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing Cleft Lip GWAS,genome-wide linkage Others Others PTCH1 Homo sapiens
Investigation of Genetic Factors Underlying Typical Orofacial Clefts: Mutational Screening and Copy Number Variation Cleft Lip SNP genotyping by SNP array Others Others FGF8 Homo sapiens
Loss-of-Function GRHL3 Variants Detected in African Patients With Isolated Cleft Palate Cleft Lip Sanger Sequencing Salivary Gland Saliva GRHL3 Homo sapiens
Loss-of-function Mutations in FGFR1 Cause Autosomal Dominant Kallmann Syndrome Cleft Lip RNA-seq Others Others FGFR1 Homo sapiens
Loss-of-function Mutations in the Human GLI2 Gene Are Associated With Pituitary Anomalies and Holoprosencephaly-Like Features Cleft Lip single-strand conformational polymorphism analysis Others Others GLI2 Homo sapiens
Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate Cleft Lip Direct sequencing of PCR Blood Whole Blood PVRL 1 Homo sapiens
Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate Cleft Lip Direct sequencing of PCR Blood Whole Blood CLPTM1 Homo sapiens
Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome Cleft Lip DNA sequencing analysis Others Others RIPK4 Homo sapiens
Mutations in SPECC1L, Encoding Sperm Antigen With Calponin Homology and Coiled-Coil Domains 1-like, Are Found in Some Cases of Autosomal Dominant Opitz G/BBB Syndrome Cleft Lip SNP genome-wide microarray,whole exome sequencing Lymphoid Peripheral-Blood Lymphocytes SPECC1L Homo sapiens
Mutations in TGIF Cause Holoprosencephaly and Link NODAL Signalling to Human Neural Axis Determination Cleft Lip mutational analysis Others Others TGIF Homo sapiens
Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome Cleft Lip Genome variation profiling by SNP array Others Others CHRNG Homo sapiens
Novel TBX22 Mutations in Chinese Nonsyndromic Cleft Lip/Palate Families Cleft Lip PCR genotyping Blood Whole Blood TBX22 Homo sapiens
PAX9 and TGFB3 Are Linked to Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate in the Japanese: Population-Based and Family-Based Candidate Gene Analyses Cleft Lip Double strand direct sequencing Blood Whole Blood PAX9 Homo sapiens
PAX9 and TGFB3 Are Linked to Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate in the Japanese: Population-Based and Family-Based Candidate Gene Analyses Cleft Lip Double strand direct sequencing Blood Whole Blood TGFB3 Homo sapiens
Screening of Mutations in the PHF8 Gene and Identification of a Novel Mutation in a Finnish Family With XLMR and Cleft Lip/Cleft Palate Cleft Lip Double strand direct sequencing Blood Peripheral Blood PHF8 Homo sapiens
Short Rib-Polydactyly Syndrome Type II (Majewski): Prenatal Diagnosis, Perinatal Imaging Findings and Molecular Analysis of the NEK1 Gene Cleft Lip Molecular analysis Fetus Amniocytes NEK1 Homo sapiens
TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome Cleft Lip GWAS Others Others TFAP2A Homo sapiens
Two Novel Genes TOX3 and COL21A1 in Large Extended Malay Families With Nonsyndromic Cleft Lip and/or Palate Cleft Lip GWAS Blood Heparinized Peripheral Blood TOX3 Homo sapiens
Two Novel Genes TOX3 and COL21A1 in Large Extended Malay Families With Nonsyndromic Cleft Lip and/or Palate Cleft Lip GWAS Blood Heparinized Peripheral Blood COL21A1 Homo sapiens
Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome Cleft Lip Sanger sequencing Salivary Gland / Blood Saliva,Blood MID1 Homo sapiens
Variation in IRF6 contributes to nonsyndromic cleft lip and palate Cleft Lip Double strand direct sequencing Blood Whole Blood IRF6 Homo sapiens
VAX1 Gene Associated Non-Syndromic Cleft Lip With or Without Palate in Western Han Chinese Cleft Lip SNPscan method Blood Venous Blood VAX1 Homo sapiens
Mutations in PITX2 may Contribute to Cases of Omphalocele and VATER-Like Syndromes Omphalocele Double strand direct sequencing Blood Blood Spot PITX2 Homo sapiens
Folate and Vitamin B12-related Genes and Risk for Omphalocele Omphalocele SNP genotyping by SNP array Blood Dried Blood Spot Punches MTHFR Homo sapiens
Folate and Vitamin B12-related Genes and Risk for Omphalocele Omphalocele SNP genotyping by SNP array Blood Dried Blood Spot Punches BHMT Homo sapiens
Folate and Vitamin B12-related Genes and Risk for Omphalocele Omphalocele SNP genotyping by SNP array Blood Dried Blood Spot Punches TCblR Homo sapiens
Folate and Vitamin B12-related Genes and Risk for Omphalocele Omphalocele SNP genotyping by SNP array Blood Dried Blood Spot Punches TCN2 Homo sapiens
Mice Doubly Deficient in Six4 and Six5 Show Ventral Body Wall Defects Reproducing Human Omphalocele Omphalocele Double strand direct sequencing Embryo Embryonic Stem Cells Six4 Mus musculus
Mice Doubly Deficient in Six4 and Six5 Show Ventral Body Wall Defects Reproducing Human Omphalocele Omphalocele Double strand direct sequencing Embryo Embryonic Stem Cells Six5 Mus musculus
Occurrence of Synpolydactyly and Omphalocele in a Fetus With a HOXD13 Mutation Omphalocele Sanger sequencing Fetus Amniotic Fluid Cells HOXD13 Homo sapiens
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies Omphalocele DNA microarray Connective Fibroblasts NOX5 Homo sapiens
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies Omphalocele DNA microarray Connective Fibroblasts EWSAT1 Homo sapiens
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies Omphalocele DNA microarray Connective Fibroblasts GLCE Homo sapiens
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies Omphalocele DNA microarray Connective Fibroblasts PAQR5 Homo sapiens
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies Omphalocele DNA microarray Connective Fibroblasts KIF23 Homo sapiens
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies Omphalocele DNA microarray Connective Fibroblasts RPLP1 Homo sapiens
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies Omphalocele DNA microarray Connective Fibroblasts DRAIC Homo sapiens
15q23 Gain in a Neonate With a Giant Omphalocele and Multiple Co-Occurring Anomalies Omphalocele DNA microarray Connective Fibroblasts PCAT29 Homo sapiens
GAD65/GAD67 Double Knockout Mice Exhibit Intermediate Severity in Both Cleft Palate and Omphalocele Compared With GAD67 Knockout and VGAT Knockout Mice Omphalocele PCR genotyping Tail Others GAD67 Mus musculus
GAD65/GAD67 Double Knockout Mice Exhibit Intermediate Severity in Both Cleft Palate and Omphalocele Compared With GAD68 Knockout and VGAT Knockout Mice Omphalocele PCR genotyping Tail Others GAD65 Mus musculus
GAD65/GAD67 Double Knockout Mice Exhibit Intermediate Severity in Both Cleft Palate and Omphalocele Compared With GAD69 Knockout and VGAT Knockout Mice Omphalocele PCR genotyping Tail Others VGAT Mus musculus
Msx1 and Msx2 Gene Expression Is Downregulated in the Cadmium-Induced Omphalocele in the Chick Model Omphalocele Expression profiling by RT-PCR Chick Embryos Blastocysts Msx1 Pullum
Msx1 and Msx2 Gene Expression Is Downregulated in the Cadmium-Induced Omphalocele in the Chick Model Omphalocele Expression profiling by RT-PCR Chick Embryos Blastocysts Msx2 Pullum
Eya1 and Eya2 Gene Expression Is Down-Regulated During Somitic Myogenesis in the Cadmium-Induced Omphalocele Chick Model Omphalocele Expression profiling by RT-PCR Chick Embryos Blastocysts Eyal1 Pullum
Eya1 and Eya2 Gene Expression Is Down-Regulated During Somitic Myogenesis in the Cadmium-Induced Omphalocele Chick Model Omphalocele Expression profiling by RT-PCR Chick Embryos Blastocysts Eyal2 Pullum
Altered PITX2 and LEF1 Gene Expression in the Cadmium-Induced Omphalocele in the Chick Model Omphalocele Expression profiling by RT-PCR Chick Embryos Blastocysts PITX2 Pullum
Altered PITX2 and LEF1 Gene Expression in the Cadmium-Induced Omphalocele in the Chick Model Omphalocele Expression profiling by RT-PCR Chick Embryos Blastocysts LEF1 Pullum
Homozygous Mutation in ELMO2 May Cause Ramon Syndrome Omphalocele Genome-wide microarray Blood / Cordal Cord Pbmc,Cord Blood ELMO2 Homo sapiens
HoxB2, HoxB4 and Alx4 Genes Are Downregulated in the Cadmium-Induced Omphalocele in the Chick Model Omphalocele Expression profiling by RT-PCR Chick Embryos Blastocysts HoxB2 Pullum
HoxB2, HoxB4 and Alx4 Genes Are Downregulated in the Cadmium-Induced Omphalocele in the Chick Model Omphalocele Expression profiling by RT-PCR Chick Embryos Blastocysts HoxB4 Pullum
HoxB2, HoxB4 and Alx4 Genes Are Downregulated in the Cadmium-Induced Omphalocele in the Chick Model Omphalocele Expression profiling by RT-PCR Chick Embryos Blastocysts Alx4 Pullum
MSX1 gene polymorphisms and non-syndromic cleft lip with or without palate (NSCL/P): A meta-analysis Omphalocele SNP genotyping by SNP array Blood Eripheral Blood Leukocytes MSX1 Homo sapiens
Sequence Variants Identification at the KCNQ1OT1:TSS Differentially Methylated Region in Isolated Omphalocele Cases Omphalocele DNA methylation analysis,Methylation profiling by Amniotic Fluid / Peripheral Blood Lymphocytes Amniotic Fluid Cells,Lymphoblast CDKN1C Homo sapiens
Sequence Variants Identification at the KCNQ1OT1:TSS Differentially Methylated Region in Isolated Omphalocele Cases Omphalocele DNA methylation analysis,Methylation profiling by Amniotic Fluid / Peripheral Blood Lymphocytes Amniotic Fluid Cells,Lymphoblast KCNQ1 Homo sapiens
Sequence Variants Identification at the KCNQ1OT1:TSS Differentially Methylated Region in Isolated Omphalocele Cases Omphalocele DNA methylation analysis,Methylation profiling by Amniotic Fluid / Peripheral Blood Lymphocytes Amniotic Fluid Cells,Lymphoblast PHLDA Homo sapiens
Sequence Variants Identification at the KCNQ1OT1:TSS Differentially Methylated Region in Isolated Omphalocele Cases Omphalocele DNA methylation analysis,Methylation profiling by Amniotic Fluid / Peripheral Blood Lymphocytes Amniotic Fluid Cells,Lymphoblast SLC22A18 Homo sapiens
Sequence Variants Identification at the KCNQ1OT1:TSS Differentially Methylated Region in Isolated Omphalocele Cases Omphalocele DNA methylation analysis,Methylation profiling by Amniotic Fluid / Lymphoid Amniotic Fluid Cells,Lymphoblast KCNQ1OT1:TSS-DMR Homo sapiens
Genome-wide Association Study Reveals a QTL and Strong Candidate Genes for Umbilical Hernia in Pigs on SSC14 Omphalocele GWAS Blood / Lymphoid / Gonadal Whole Blood, Lymphocytes, Testis SSC14 Porcus
A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family With Congenital Hypothyroidism Omphalocele Sanger sequencing Blood Whole Blood SLC5A5 Homo sapiens
Downregulation of ROCK-I and ROCK-II Gene Expression in the Cadmium-Induced Ventral Body Wall Defect Chick Model Omphalocele Expression profiling by RT-PCR Chick Embryos Blastocysts ROCK-I Pullum
Downregulation of ROCK-I and ROCK-II Gene Expression in the Cadmium-Induced Ventral Body Wall Defect Chick Model Omphalocele Expression profiling by RT-PCR Chick Embryos Blastocysts ROCK-II Pullum
Two Patients With FOXF1 Mutations With Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins and Other Malformations: Two Different Presentations and Outcomes Omphalocele SNP microarray Lymphoid Peripheral Blood Lymphocytes FOXF1 Homo sapiens
Manitoba-oculo-tricho-anal (MOTA) Syndrome Is Caused by Mutations in FREM1 Omphalocele Expression profiling by RT-PCR,genome-wide SNP arr Blood Whole Blood FREM1 Homo sapiens
A Deletion Encompassing Zic3 in Bent Tail, a Mouse Model for X-linked Neural Tube Defects Omphalocele Expression profiling by RT-PCR Toes / Livers / Brain Cerebral Cortex,Others ZIC3 Mus musculus
Disruption of GLI3-ZIC3 Interaction in the Cadmium-Induced Omphalocele Chick Model Omphalocele Expression profiling by RT-PCR Chick Embryos Blastocysts Gli3 Pullum
A Novel Frameshift Mutation in TWIST2 Gene Causing Setleis Syndrome Omphalocele Others Others Others TWIST2 Homo sapiens
Conditional Mutation of Fibroblast Growth Factor Receptors 1 and 2 Results in an Omphalocele in Mice Associated With Disruptions in Ventral Body Wall Muscle Formation Omphalocele Double strand direct sequencing Embryos Embryonic Stem Cells FGFR1 Mus musculus
Conditional Mutation of Fibroblast Growth Factor Receptors 1 and 2 Results in an Omphalocele in Mice Associated With Disruptions in Ventral Body Wall Muscle Formation Omphalocele Double strand direct sequencing Embryos Embryonic Stem Cells FGFR2 Mus musculus
PPP2R3C Gene Variants Cause Syndromic 46,XY Gonadal Dysgenesis and Impaired Spermatogenesis in Humans Omphalocele Sanger sequencing Others Others PPP2R3C Homo sapiens
Association of NKX2-5, GATA4, and TBX5 Polymorphisms With Congenital Heart Disease in Egyptian Children Tetralogy of Fallot Genotyping by sanger sequencing method Blood Whole blood NKX2-5 Homo sapiens
Association of NKX2-5, GATA4, and TBX5 Polymorphisms With Congenital Heart Disease in Egyptian Children Tetralogy of Fallot Genotyping by sanger sequencing method Blood Whole blood GATA4 Homo sapiens
Association of NKX2-5, GATA4, and TBX5 Polymorphisms With Congenital Heart Disease in Egyptian Children Tetralogy of Fallot Genotyping by sanger sequencing method Blood Whole blood TBX5 Homo sapiens
Silencing Mutations in JAG1 Gene May Play Crucial Roles in the Pathogenesis of Tetralogy of Fallot Tetralogy of Fallot Double strand direct sequencing Blood Whole blood JAG1 Homo sapiens
A Novel GATA6 Mutation in Patients With Tetralogy of Fallot or Atrial Septal Defect Tetralogy of Fallot Double strand direct sequencing Blood Whole blood GATA6 Homo sapiens
New Mutations in ZFPM2/FOG1 Gene in Tetralogy of Fallot and Double Outlet Right Ventricle Tetralogy of Fallot Double strand direct sequencing Others Others ZFPM2 Homo sapiens
New Mutations in ZFPM2/FOG1 Gene in Tetralogy of Fallot and Double Outlet Right Ventricle Tetralogy of Fallot Double strand direct sequencing Others Others FOG2 Homo sapiens
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot Tetralogy of Fallot Whole Exome Sequencing Others Others NOTCH1 Homo sapiens
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot Tetralogy of Fallot Whole Exome Sequencing Others Others FLT4 Homo sapiens
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot Tetralogy of Fallot Whole Exome Sequencing Others Others TBX1 Homo sapiens
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot Tetralogy of Fallot Whole Exome Sequencing Others Others RYR1 Homo sapiens
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot Tetralogy of Fallot Whole Exome Sequencing Others Others ZFPM1 Homo sapiens
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot Tetralogy of Fallot Whole Exome Sequencing Others Others CAMTA2 Homo sapiens
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot Tetralogy of Fallot Whole Exome Sequencing Others Others DLX6 Homo sapiens
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot Tetralogy of Fallot Whole Exome Sequencing Others Others PCM1 Homo sapiens
CpG Island Shore Methylation of ZFPM2 Is Identified in Tetralogy of Fallot Samples Tetralogy of Fallot Quantitative methylation analysis Heart Others ZFPM2 Homo sapiens
HIRA Gene Is Lower Expressed in the Myocardium of Patients With Tetralogy of Fallot Tetralogy of Fallot Expression profiling by RT-PCR Heart Others HIRA Homo sapiens
Prevalence and Spectrum of Nkx2.6 Mutations in Patients With Congenital Heart Disease Tetralogy of Fallot Double strand direct sequencing Blood PBMC NKX2-6 Homo sapiens
NKX2.5 Mutations in Patients With Tetralogy of Fallot Tetralogy of Fallot Double strand direct sequencing Others Others NKX2-5 Homo sapiens
New Mutations in ZFPM2/FOG2 Gene in Tetralogy of Fallot and Double Outlet Right Ventricle Tetralogy of Fallot Standard cytogenetic techniques Blood Whole blood ZFPM2 Homo sapiens
New Mutations in ZFPM2/FOG2 Gene in Tetralogy of Fallot and Double Outlet Right Ventricle Tetralogy of Fallot Standard cytogenetic techniques Blood Whole blood FOG2 Homo sapiens
New Mutations in ZFPM2/FOG2 Gene in Tetralogy of Fallot and Double Outlet Right Ventricle Tetralogy of Fallot Standard cytogenetic techniques Blood Whole blood NKX2-5 Homo sapiens
Morphological and Molecular Bases of Cardiac Development Tetralogy of Fallot Others Heart Others CR1 Homo sapiens
Morphological and Molecular Bases of Cardiac Development Tetralogy of Fallot Others Heart Others PITX2 Homo sapiens
Morphological and Molecular Bases of Cardiac Development Tetralogy of Fallot Others Heart Others ANF Homo sapiens
Morphological and Molecular Bases of Cardiac Development Tetralogy of Fallot Others Heart Others MCH2A Homo sapiens
Morphological and Molecular Bases of Cardiac Development Tetralogy of Fallot Others Heart Others BMP2 Homo sapiens
Morphological and Molecular Bases of Cardiac Development Tetralogy of Fallot Others Heart Others BMP4 Homo sapiens
Morphological and Molecular Bases of Cardiac Development Tetralogy of Fallot Others Heart Others BMP5 Homo sapiens
Morphological and Molecular Bases of Cardiac Development Tetralogy of Fallot Others Heart Others BMP7 Homo sapiens
Isolated Truncus Arteriosus Associated With a Mutation in the plexin-D1 Gene Truncus Arteriosus Whole exome sequencing Others Others PLXND1 Homo sapiens
NKX2.5 Mutations in Patients With Congenital Heart Disease Truncus Arteriosus Double strand direct sequencing Blood / Lymphoid Whole blood, Lymphoblast NKX2-5 Homo sapiens
Gata4 Regulates Hedgehog Signaling and Gata6 Expression for Outflow Tract Development Truncus Arteriosus Expression profiling by RT-PCR Blood Whole blood GATA4 Homo sapiens
Gata4 Regulates Hedgehog Signaling and Gata6 Expression for Outflow Tract Development Truncus Arteriosus Expression profiling by RT-PCR Blood Whole blood GATA6 Homo sapiens
NKX2-6 Related Congenital Heart Disease: Biallelic Homeodomain-Disrupting Variants and Truncus Arteriosus Truncus Arteriosus Sanger sequencing Blood Whole blood NKX2-6 Homo sapiens
Dysregulation of TBX1 Dosage in the Anterior Heart Field Results in Congenital Heart Disease Resembling the 22q11.2 Duplication Syndrome Truncus Arteriosus Expression profiling by RT-PCR Embryo Blastocysts TBX1 Mus musculus
Meis2 Is Essential for Cranial and Cardiac Neural Crest Development Truncus Arteriosus Double strand direct sequencing Heart Others MEIS2 Mus musculus
The SWI/SNF BAF-A Complex Is Essential for Neural Crest Development Truncus Arteriosus Double strand direct sequencing Heart Others ARID1A Mus musculus
TBX20 Loss-Of-Function Mutation Responsible for Familial Tetralogy of Fallot or Sporadic Persistent Truncus Arteriosus Truncus Arteriosus Double strand direct sequencing Blood Whole blood TBX20 Homo sapiens
Mutations in Hnrnpa1 Cause Congenital Heart Defects Truncus Arteriosus Expression profiling by RT-PCR Heart Others Hnrnpa1 Mus musculus
Positional Mapping of PRKD1, NRP1 and PRDM1 as Novel Candidate Disease Genes in Truncus Arteriosus Truncus Arteriosus Whole-exome sequencing Blood Whole blood PRKD1 Homo sapiens
Positional Mapping of PRKD1, NRP1 and PRDM1 as Novel Candidate Disease Genes in Truncus Arteriosus Truncus Arteriosus Whole-exome sequencing Blood Whole blood NRP1 Homo sapiens
Positional Mapping of PRKD1, NRP1 and PRDM1 as Novel Candidate Disease Genes in Truncus Arteriosus Truncus Arteriosus Whole-exome sequencing Blood Whole blood PRDM1 Homo sapiens
Delineation of a Recognisable Phenotype of Interstitial Deletion 3 (q22.3q25.1) in a Case With Previously Unreported Truncus Arteriosus Truncus Arteriosus Expression profiling by CGH array Blood Whole blood FOXL2 Homo sapiens
Lack of Gata3 Results in Conotruncal Heart Anomalies in Mouse Truncus Arteriosus Expression profiling by RT-PCR Heart Others GATA3 Mus musculus
Targeted Disruption of Semaphorin 3C Leads to Persistent Truncus Arteriosus and Aortic Arch Interruption Truncus Arteriosus Expression profiling by RT-PCR Heart Others SEMA3C Mus musculus
Cardiovascular Malformations in CHARGE Syndrome With DiGeorge Phenotype: Two Case Reports Truncus Arteriosus Double strand direct sequencing Blood Cord blood CHD7 Homo sapiens
Characterization of the Mouse Tdgf1 Gene and Tdgf Pseudogenes Truncus Arteriosus Double strand direct sequencing Others NIH 3T3 cell line TDGF1 Mus musculus
Dgcr8 Controls Neural Crest Cells Survival in Cardiovascular Development Truncus Arteriosus Double strand direct sequencing Embryo Blastocysts DGCR8 Mus musculus
 Comparative Analysis of Meox1 and Meox2 in the Developing Somites and Limbs of the Chick Embryo Truncus Arteriosus Expression profiling by RT-PCR Embryo Blastocysts MEOX1 Gallus domesticus
 Comparative Analysis of Meox1 and Meox2 in the Developing Somites and Limbs of the Chick Embryo Truncus Arteriosus Expression profiling by RT-PCR Embryo Blastocysts MEOX2 Gallus domesticus
ASK1 Mediates the Teratogenicity of Diabetes in the Developing Heart by Inducing ER Stress and Inhibiting Critical Factors Essential for Cardiac Development Truncus Arteriosus Western blotting Heart Others ASK1 Mus musculus
The Role of Pitx2 During Cardiac Development. Linking Left-Right Signaling and Congenital Heart Diseases Truncus Arteriosus Not metioned Not metioned Not metioned PITX2 Homo sapiens
SWI/SNF Protein Component BAF250a Regulates Cardiac Progenitor Cell Differentiation by Modulating Chromatin Accessibility During Second Heart Field Development Truncus Arteriosus Expression profiling by RT-PCR Embryo Blastocysts BAF250A Mus musculus
Reduced Dosage of ?-Catenin Provides Significant Rescue of Cardiac Outflow Tract Anomalies in a Tbx1 Conditional Null Mouse Model of 22q11.2 Deletion Syndrome Truncus Arteriosus Expression profiling by RT-PCR Embryo Blastocysts TBX1 Mus musculus
Reduced Dosage of ?-Catenin Provides Significant Rescue of Cardiac Outflow Tract Anomalies in a Tbx1 Conditional Null Mouse Model of 22q11.2 Deletion Syndrome Truncus Arteriosus Expression profiling by RT-PCR Embryo Blastocysts WNT1 Mus musculus
Hand1 Phosphomutant Mice: Dimer Choice That Is Not So Critical Truncus Arteriosus Double strand direct sequencing Embryo Blastocysts HAND1 Mus musculus
Prenatal Diagnosis of an Unexpected Interstitial 22q11.2 Deletion Causing Truncus Arteriosus and Thymic Hypoplasia in a Ring 22 Chromosome Derived From a Maternally Inherited Paracentric Inversion Truncus Arteriosus Double strand direct sequencing Lymphoid Lymphocyte TUPLE1 Homo sapiens
Cardiac Outflow Morphogenesis Depends on Effects of Retinoic Acid Signaling on Multiple Cell Lineages Truncus Arteriosus Not metioned Embryo Blastocysts RALDH2 Mus musculus
Requirement of DLG1 for Cardiovascular Development and Tissue Elongation During Cochlear, Enteric, and Skeletal Development: Possible Role in Convergent Extension Truncus Arteriosus Not metioned Embryo Blastocysts DLG1 Mus musculus
Transcriptional Deregulation and a Missense Mutation Define ANKRD1 as a Candidate Gene for Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venou Double strand direct sequencing Lymphoid Lymphoblastoid ANKRD1 Homo sapiens
NKX2.5 Mutation Identification on Exome Sequencing in a Patient With Heterotaxy Total Anomalous Pulmonary Venou Exome sequencing Blood PBMC NKX2.5 Homo sapiens
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR) Total Anomalous Pulmonary Venou WGS Blood Whole blood CARP Homo sapiens
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR) Total Anomalous Pulmonary Venou WGS Blood Whole blood PDGFRA Homo sapiens
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR) Total Anomalous Pulmonary Venou WGS Blood Whole blood RBP5 Homo sapiens
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR) Total Anomalous Pulmonary Venou WGS Blood Whole blood NODAL Homo sapiens
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR) Total Anomalous Pulmonary Venou WGS Blood Whole blood TAVPR Homo sapiens
Whole-exome Sequencing Identifies SGCD and ACVRL1 Mutations Associated With Total Anomalous Pulmonary Venous Return (TAPVR) in Chinese Population Total Anomalous Pulmonary Venou Whole-exome sequencing Blood Whole blood SGCD Homo sapiens
Whole-exome Sequencing Identifies SGCD and ACVRL1 Mutations Associated With Total Anomalous Pulmonary Venous Return (TAPVR) in Chinese Population Total Anomalous Pulmonary Venou Whole-exome sequencing Blood Whole blood ACVRL1 Homo sapiens
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection Total Anomalous Pulmonary Venou Next-generation Sequencing Blood Whole blood CLTCL1 Homo sapiens
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection Total Anomalous Pulmonary Venou Next-generation Sequencing Blood Whole blood CST3 Homo sapiens
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection Total Anomalous Pulmonary Venou Next-generation Sequencing Blood Whole blood GXYLT1 Homo sapiens
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection Total Anomalous Pulmonary Venou Next-generation Sequencing Blood Whole blood HMGA2 Homo sapiens
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection Total Anomalous Pulmonary Venou Next-generation Sequencing Blood Whole blood SNAI1 Homo sapiens
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection Total Anomalous Pulmonary Venou Next-generation Sequencing Blood Whole blood VAV2 Homo sapiens
Next-generation Sequencing Identifies Novel Genes With Rare Variants in Total Anomalous Pulmonary Venous Connection Total Anomalous Pulmonary Venou Next-generation Sequencing Blood Whole blood ZDHHC8 Homo sapiens
Congenital Second-Degree Heart Block and Total Anomalous Pulmonary Venous Return Associated With Microduplication of 1q32.2 Total Anomalous Pulmonary Venou CGH array Blood PBMC KCNH1 Homo sapiens
Congenital Second-Degree Heart Block and Total Anomalous Pulmonary Venous Return Associated With Microduplication of 1q32.2 Total Anomalous Pulmonary Venou CGH array Blood PBMC KIAA0205 Homo sapiens
Congenital Second-Degree Heart Block and Total Anomalous Pulmonary Venous Return Associated With Microduplication of 1q32.2 Total Anomalous Pulmonary Venou CGH array Blood PBMC LAMB3 Homo sapiens
Congenital Second-Degree Heart Block and Total Anomalous Pulmonary Venous Return Associated With Microduplication of 1q32.2 Total Anomalous Pulmonary Venou CGH array Blood PBMC PPP2R5A Homo sapiens
Sibling Recurrence of Total Anomalous Pulmonary Venous Drainage Total Anomalous Pulmonary Venou Whole exome sequencing Blood PBMC EFTUD2 Homo sapiens
A Gene for Familial Total Anomalous Pulmonary Venous Return Maps to Chromosome 4p13-q12 Total Anomalous Pulmonary Venou Others Blood Whole blood TAVPR1 Homo sapiens
De Novo Deletions and Duplications of 17q25.3 Cause Susceptibility to Cardiovascular Malformations Total Anomalous Pulmonary Venou SNP genotyping by SNP array Blood Whole blood ACTG1 Homo sapiens
De Novo Deletions and Duplications of 17q25.3 Cause Susceptibility to Cardiovascular Malformations Total Anomalous Pulmonary Venou SNP genotyping by SNP array Blood Whole blood ARHGDIA Homo sapiens
15q11.2 Deletion Is Enriched in Patients With Total Anomalous Pulmonary Venous Connection Total Anomalous Pulmonary Venou Chromosomal Microarray Blood Whole blood TUBGCP5 Homo sapiens
A Male Newborn With Simpson-Golabi-Behmel Syndrome, Presenting With Metopic Synostosis, Anal Atresia, and Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venou Others Others Others GPC3 Homo sapiens
A De Novo Atypical Ring sSMC(22) Characterized by Array CGH in a Boy With Cat-Eye Syndrome Total Anomalous Pulmonary Venou Double strand direct sequencing Lymphoid Lymphocytes CECR1 Homo sapiens
Expression of connexin-43 in the Cardiac Muscle of Children Diagnosed With Hypoplastic Left Heart Syndrome: A Western Blot and Confocal Laser Scanning Microscopy Study Hypoplastic Left Heart Syndrome Western blot Heart Others GJA1 Homo sapiens
Cardiac Homeobox Gene NKX2-5 Mutations and Congenital Heart Disease: Associations With Atrial Septal Defect and Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome DNA sequencing analysis Blood Whole blood NKX2-5 Homo sapiens
Novel Compound Heterozygous TBX5 Variants May Induce Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome Directed next-generation sequencing Blood Whole blood TBX5 Homo sapiens
Compound Heterozygous NOTCH1 Mutations Underlie Impaired Cardiogenesis in a Patient With Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome Array comparative genomic hybridization Blood / Salivary gland PBMC?Saliva NOTCH1 Homo sapiens
Impact of MYH6 Variants in Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome Next-generation sequencing Heart Others MYH6 Homo sapiens
The Contribution of De Novo and Rare Inherited Copy Number Changes to Congenital Heart Disease in an Unselected Sample of Children With Conotruncal Defects or Hypoplastic Left Heart Disease Hypoplastic Left Heart Syndrome DNA microarray Blood / Salivary gland Whole blood,Saliva GATA4 Homo sapiens
The Contribution of De Novo and Rare Inherited Copy Number Changes to Congenital Heart Disease in an Unselected Sample of Children With Conotruncal Defects or Hypoplastic Left Heart Disease Hypoplastic Left Heart Syndrome DNA microarray Blood / Salivary gland Whole blood,Saliva NODAL Homo sapiens
Directed Differentiation of Patient-Specific Induced Pluripotent Stem Cells Identifies the Transcriptional Repression and Epigenetic Modification of NKX2-5, HAND1, and NOTCH1 in Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome Expression profiling by RT-PCR Heart Others HAND1 Homo sapiens
Directed Differentiation of Patient-Specific Induced Pluripotent Stem Cells Identifies the Transcriptional Repression and Epigenetic Modification of NKX2-5, HAND1, and NOTCH1 in Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome Expression profiling by RT-PCR Heart Others NKX2-5 Homo sapiens
Directed Differentiation of Patient-Specific Induced Pluripotent Stem Cells Identifies the Transcriptional Repression and Epigenetic Modification of NKX2-5, HAND1, and NOTCH3 in Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome Expression profiling by RT-PCR Heart Others NOTCH1 Homo sapiens
The Complex Genetics of Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome RNA-seq Heart Others SAP130 Mus musculus
The Complex Genetics of Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome RNA-seq Heart Others PCDHA13 Mus musculus
The Genetic Landscape of Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome RNA-seq Heart Others PCDHA9 Mus musculus
Alveolar Capillary Dysplasia With Misalignment of the Pulmonary Veins and Hypoplastic Left Heart Sequence Caused by an in Frame Deletion Within FOXF1 Hypoplastic Left Heart Syndrome Rapid exome sequencing Heart Others FOXF1 Homo sapiens
Rbfox2 Function in RNA Metabolism Is Impaired in Hypoplastic Left Heart Syndrome Patient Hearts Hypoplastic Left Heart Syndrome Expression profiling by RT-PCR Heart Others RBFOX2 Homo sapiens
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion Hypoplastic Left Heart Syndrome Whole-genome aCGH Fetus Amniotic fluid cells SHOX Homo sapiens
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion Hypoplastic Left Heart Syndrome Whole-genome aCGH Fetus Amniotic fluid cells CSF2RA Homo sapiens
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion Hypoplastic Left Heart Syndrome Whole-genome aCGH Fetus Amniotic fluid cells ARSE Homo sapiens
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion Hypoplastic Left Heart Syndrome Whole-genome aCGH Fetus Amniotic fluid cells SOX3 Homo sapiens
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion Hypoplastic Left Heart Syndrome Whole-genome aCGH Fetus Amniotic fluid cells FMR1 Homo sapiens
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion Hypoplastic Left Heart Syndrome Whole-genome aCGH Fetus Amniotic fluid cells MECP2 Homo sapiens
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion Hypoplastic Left Heart Syndrome Whole-genome aCGH Fetus Amniotic fluid cells RAB39B Homo sapiens
Molecular Cytogenetic Characterization of Xp22.32?pter Deletion and Xq26.3?qter Duplication in a Male Fetus Associated With 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a Hypoplastic Left Heart, Short Stature, and Maternal X Chromosome Pericentric Inversion Hypoplastic Left Heart Syndrome Whole-genome aCGH Fetus Amniotic fluid cells CLI2 Homo sapiens
Severe Peters Plus Syndrome-Like Phenotype With Anterior Eye Staphyloma and Hypoplastic Left Heart Syndrome: Proposal of a New Syndrome Hypoplastic Left Heart Syndrome Double strand direct sequencing Lymphoid Lymphocyte B3GALTL Homo sapiens
Alveolar Capillary Dysplasia With Misalignment of the Pulmonary Veins and Hypoplastic Left Heart Sequence Caused by an in Frame Deletion Within FOXF1 Pulmonary Atresia Rapid exome sequencing Heart Others FOXF1 Homo sapiens
Temporally Distinct Six2-Positive Second Heart Field Progenitors Regulate Mammalian Heart Development and Disease Pulmonary Atresia Double strand direct sequencing Heart Others SHH Mus musculus
Temporally Distinct Six2-Positive Second Heart Field Progenitors Regulate Mammalian Heart Development and Disease Pulmonary Atresia Double strand direct sequencing Heart Others SIX2 Mus musculus
Detecting 22q11.2 Deletion in Chinese Children With Conotruncal Heart Defects and Single Nucleotide Polymorphisms in the Haploid TBX1 Locus Pulmonary Atresia Double strand direct sequencing Lymphoid Lymphocytes TBX1 Mus musculus
Changes of Seral TNF-alpha, IL-6 and IL-10 Level After Implantation of Valved Bovine Jugular Vein Conduit in Complex Congenital Heart Diseases Pulmonary Atresia Double strand direct sequencing Blood PBMC IL6 Homo sapiens
Changes of Seral TNF-alpha, IL-6 and IL-10 Level After Implantation of Valved Bovine Jugular Vein Conduit in Complex Congenital Heart Diseases Pulmonary Atresia Double strand direct sequencing Blood PBMC TNF Homo sapiens
Changes of Seral TNF-alpha, IL-6 and IL-10 Level After Implantation of Valved Bovine Jugular Vein Conduit in Complex Congenital Heart Diseases Pulmonary Atresia Double strand direct sequencing Blood PBMC IL10 Homo sapiens
Compound Heterozygous NOTCH1 Mutations Underlie Impaired Cardiogenesis in a Patient With Hypoplastic Left Heart Syndrome Pulmonary Atresia Array comparative genomic hybridization Blood / Salivary gland PBMC?Saliva NOTCH1 Homo sapiens
Association of Growth/Differentiation Factor 1 Gene Polymorphisms With the Risk of Congenital Heart Disease in the Chinese Han Population Pulmonary Atresia SNP genotyping by SNP array Blood PBMC GDF1 Homo sapiens
Fgf10 Gene Expression Is Delayed in the Embryonic Lung Mesenchyme in the Adriamycin Mouse Model Pulmonary Atresia Others Embryo Embryonic stem cells FGF10 Mus musculus
Treatment of Children With Protein - Losing Enteropathy After Fontan and Other Complex Congenital Heart Disease Procedures in Condition With Limited Human and Technical Resources Pulmonary Atresia Others Blood Whole blood ACE Homo sapiens
Novel JAG1 Deletion Variant in Patient With Atypical Alagille Syndrome Pulmonary Atresia Next-Generation Sequencing Blood Whole blood JAG1 Homo sapiens
Novel JAG1 Deletion Variant in Patient With Atypical Alagille Syndrome Pulmonary Atresia Next-Generation Sequencing Blood Whole blood NOTCH2 Homo sapiens
Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect Pulmonary Atresia Whole-Exome Sequencing Blood Whole blood FLT4 Homo sapiens
Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect Pulmonary Atresia Whole-Exome Sequencing Blood Whole blood PPP4C Homo sapiens
Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect Pulmonary Atresia Whole-Exome Sequencing Blood Whole blood RICTOR Homo sapiens
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease Tricuspid Atresia Double strand direct sequencing Lymphoid leukocytes NKX2.5 Homo sapiens
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease Tricuspid Atresia Double strand direct sequencing Lymphoid leukocytes GATA4 Homo sapiens
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease Tricuspid Atresia Double strand direct sequencing Lymphoid leukocytes TBX1 Homo sapiens
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease Tricuspid Atresia Double strand direct sequencing Lymphoid leukocytes TBX5 Homo sapiens
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease Tricuspid Atresia Double strand direct sequencing Lymphoid leukocytes TBX20 Homo sapiens
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease Tricuspid Atresia Double strand direct sequencing Lymphoid leukocytes CFC1 Homo sapiens
Genetic Mutation Analysis in Japanese Patients With Non-Syndromic Congenital Heart Disease Tricuspid Atresia Double strand direct sequencing Lymphoid leukocytes ZIC3 Homo sapiens
ZFPM2/FOG2 and HEY2 Genes Analysis in Nonsyndromic Tricuspid Atresia Tricuspid Atresia Double strand direct sequencing Blood Whole blood ZFPM2 Homo sapiens
ZFPM2/FOG2 and HEY3 Genes Analysis in Nonsyndromic Tricuspid Atresia Tricuspid Atresia Double strand direct sequencing Blood Whole blood FOG2 Homo sapiens
ZFPM2/FOG2 and HEY3 Genes Analysis in Nonsyndromic Tricuspid Atresia Tricuspid Atresia Double strand direct sequencing Blood Whole blood HEY2 Homo sapiens
Two Heterozygous Mutations in NFATC1 in a Patient With Tricuspid Atresia Tricuspid Atresia Double strand direct sequencing Blood Whole blood NFATC1 Homo sapiens
Determination of a New Mutation in MT-ND1 Gene of a Patient With Dextrocardia, Ventriculoarterial Discordance, and Tricuspid Atresia Tricuspid Atresia Double strand direct sequencing Heart Others MTND1 Homo sapiens
A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family Tricuspid Atresia Exome sequencing Blood Whole blood RASA1 Homo sapiens
Identification and Analysis of KLF13 Variants in Patients With Congenital Heart Disease Tricuspid Atresia Double strand direct sequencing Blood Whole blood KLF13 Homo sapiens
Neonatal Marfan Syndrome: Unusually Large Deletion of Exons 24-26 of FBN1 Associated With Poor Prognosis Tricuspid Atresia Postmortal molecular study Others Others FBN1 Homo sapiens
A Syndrome of Tricuspid Atresia in Mice With a Targeted Mutation of the Gene Encoding Fog-2 Tricuspid Atresia Double strand direct sequencing Embryo Blastocysts FOG2 Mus musculus
Mandibular Dysmorphology Due to Abnormal Embryonic Osteogenesis in FGFR2-related Craniosynostosis Mice Craniosynostosis RNA-seq Embryo Blastocysts FGFR2 Mus musculus
ERF-related Craniosynostosis: The Phenotypic and Developmental Profile of a New Craniosynostosis Syndrome Craniosynostosis Others Others Others ETS2 Homo sapiens
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis Craniosynostosis Exome and whole genome sequencing Blood Whole blood AHDC1 Homo sapiens
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis Craniosynostosis Exome and whole genome sequencing Blood Whole blood EFNB1 Homo sapiens
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis Craniosynostosis Exome and whole genome sequencing Blood Whole blood FBN1 Homo sapiens
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis Craniosynostosis Exome and whole genome sequencing Blood Whole blood IL11RA Homo sapiens
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis Craniosynostosis Exome and whole genome sequencing Blood Whole blood KRAS Homo sapiens
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis Craniosynostosis Exome and whole genome sequencing Blood Whole blood MSX2 Homo sapiens
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis Craniosynostosis Exome and whole genome sequencing Blood Whole blood STAT3 Homo sapiens
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis Craniosynostosis Exome and whole genome sequencing Blood Whole blood CDC45 Homo sapiens
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis Craniosynostosis Exome and whole genome sequencing Blood Whole blood HUWE1 Homo sapiens
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis Craniosynostosis Exome and whole genome sequencing Blood Whole blood 1L11RA Homo sapiens
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis Craniosynostosis Exome and whole genome sequencing Blood Whole blood NTEK2 Homo sapiens
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis Craniosynostosis Exome and whole genome sequencing Blood Whole blood TWIST1 Homo sapiens
Diagnostic Value of Exome and Whole Genome Sequencing in Craniosynostosis Craniosynostosis Exome and whole genome sequencing Blood Whole blood ZIC1 Homo sapiens
Novel 1q22-q23.1 Duplication in a Patient With Lambdoid and Metopic Craniosynostosis, Muscular Hypotonia, and Psychomotor Retardation Craniosynostosis Expression profiling by RT-PCR Blood Peripheral blood LMNA Homo sapiens
Novel 1q22-q23.1 Duplication in a Patient With Lambdoid and Metopic Craniosynostosis, Muscular Hypotonia, and Psychomotor Retardation Craniosynostosis Expression profiling by RT-PCR Blood Peripheral blood BGLAP Homo sapiens
Bilateral Radial Agenesis With Absent Thumbs, Complex Heart Defect, Short Stature, and Facial Dysmorphism in a Patient With Pure Distal Microduplication of 5q35.2-5q35.3 Craniosynostosis Quantitative real-time PCR Blood peripheral blood MSX2 Homo sapiens
Bilateral Radial Agenesis With Absent Thumbs, Complex Heart Defect, Short Stature, and Facial Dysmorphism in a Patient With Pure Distal Microduplication of 5q35.2-5q35.3 Craniosynostosis Quantitative real-time PCR Blood peripheral blood FGFR4 Homo sapiens
Mutations in TCF12, Encoding a Basic Helix-Loop-Helix Partner of TWIST1, Are a Frequent Cause of Coronal Craniosynostosis Craniosynostosis Exome sequencing Blood Whole blood TCF12 Homo sapiens
Mutations in TCF12, Encoding a Basic Helix-Loop-Helix Partner of TWIST1, Are a Frequent Cause of Coronal Craniosynostosis Craniosynostosis Exome sequencing Blood Whole blood TWIST1 Homo sapiens
ALX4 Gain-Of-Function Mutations in Nonsyndromic Craniosynostosis Craniosynostosis Double strand direct sequencing Blood Whole blood ALX4 Homo sapiens
Gain-of-Function Mutations in ZIC1 Are Associated With Coronal Craniosynostosis and Learning Disability Craniosynostosis Whole Genome/Exome Sequencing Blood Whole blood ZIC1 Homo sapiens
RECQL4 Regulates p53 Function In Vivo During Skeletogenesis Craniosynostosis Expression profiling by RT-PCR Forelimb Others RECQL4 Mus musculus
Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis via Rare SMAD6 and Common BMP2 Alleles Craniosynostosis Exome sequencing Salivary gland Saliva SMAD6 Homo sapiens
Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis via Rare SMAD6 and Common BMP2 Alleles Craniosynostosis Exome sequencing Salivary gland Saliva BMP2 Homo sapiens
Therapeutic Effect of Nanogel-Based Delivery of Soluble FGFR2 With S252W Mutation on Craniosynostosis Craniosynostosis Expression profiling by RT-PCR Blood Whole blood FGF10 Mus musculus
Therapeutic Effect of Nanogel-Based Delivery of Soluble FGFR2 With S252W Mutation on Craniosynostosis Craniosynostosis Expression profiling by RT-PCR Blood Whole blood FGFR2B Mus musculus
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental Retardation Disorders Revisited Craniosynostosis SSCP or DHPLC analysis Blood Whole blood FBN1 Homo sapiens
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental Retardation Disorders Revisited Craniosynostosis SSCP or DHPLC analysis Blood Whole blood TGFBR1 Homo sapiens
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome Craniosynostosis Sanger sequencing Blood Peripheral blood GLI3 Homo sapiens
Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-Mediated mRNA Decay Craniosynostosis Quantification of NMD by pyrosequencing Blood Peripheral blood RAB23 Homo sapiens
Clinical and Molecular Genetic Characterization of a Male Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia) and Biallelic WDR35 Mutations Craniosynostosis Molecular Genetic Analysis Blood Peripheral blood WDR35 Homo sapiens
Loss-of-function and Gain-Of-Function Mutations in PPP3CA Cause Two Distinct Disorders Craniosynostosis Whole exome sequencing Blood Whole blood PPP3CA Homo sapiens
A Syndrome of Altered Cardiovascular, Craniofacial, Neurocognitive and Skeletal Development Caused by Mutations in TGFBR1 or TGFBR2 Craniosynostosis Western-blot analysis Others Others TGFBR1 Homo sapiens
A Syndrome of Altered Cardiovascular, Craniofacial, Neurocognitive and Skeletal Development Caused by Mutations in TGFBR1 or TGFBR3 Craniosynostosis Western-blot analysis Others Others TGFBR2 Homo sapiens
Cole-Carpenter syndrome-1 With a De Novo Heterozygous Deletion in the P4HB Gene in a Chinese Girl: A Case Report Craniosynostosis Whole exome sequencing Blood Peripheral blood P4HB Homo sapiens
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome With Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction Craniosynostosis Exome or whole-genome sequencing Blood Peripheral blood SLC25A24 Homo sapiens
Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated With Defective Lateralization Craniosynostosis SNP genotyping by SNP array Blood Whole blood MEGF8 Homo sapiens
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis Craniosynostosis Whole-Genome and Exome Sequencing Others Others CDC45 Homo sapiens
X-linked Hypophosphatemic Rickets and Craniosynostosis Craniosynostosis Bidirectional sequencing of polymerase chain react Others Others FGF23 Homo sapiens
X-linked Hypophosphatemic Rickets and Craniosynostosis Craniosynostosis Bidirectional sequencing of polymerase chain react Others Others PHEX Homo sapiens
Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature Craniosynostosis High-resolution genome-wide DNA microarray Blood Whole blood CYP26B1 Homo sapiens
COLEC10 Is Mutated in 3MC Patients and Regulates Early Craniofacial Development Craniosynostosis Whole exome sequencing Blood Whole blood COLEC10 Homo sapiens
Expanding the SPECC1L Mutation Phenotypic Spectrum to Include Teebi Hypertelorism Syndrome Craniosynostosis SNP microarray, negative MID1 sequencing Blood Whole blood SPECC1L Homo sapiens
Japanese Patient With Cole-carpenter Syndrome With Compound Heterozygous Variants of SEC24D Craniosynostosis Whole exome sequencing Blood Whole blood SEC24D Homo sapiens
Heterozygous Mutations of FREM1 Are Associated With an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice Craniosynostosis Double strand direct sequencing Blood Whole blood FREM1 Mus musculus / Homo sapiens
Increased FGF8 Signaling Promotes Chondrogenic Rather Than Osteogenic Development in the Embryonic Skull Craniosynostosis RNA-seq Bone / cartilage Others FGF8 Mus musculus
An Autosomal Dominant High Bone Mass Phenotype in Association With Craniosynostosis in an Extended Family Is Caused by an LRP5 Missense Mutation Craniosynostosis Double strand direct sequencing Blood Peripheral blood LRP5 Homo sapiens
Phenotype Delineation of ZNF462 Related Syndrome Craniosynostosis Double strand direct sequencing Blood Peripheral blood ZNF462 Homo sapiens
Duplication of 10q24 Locus: Broadening the Clinical and Radiological Spectrum Upper and Lower Limb Reduction Defects Array CGH Blood Peripheral blood SHFM3 Homo sapiens
Isolated Terminal Limb Reduction Defects: Extending the Clinical Spectrum of Adams-Oliver Syndrome and ARHGAP31 Mutations Craniosynostosis Sanger sequencing Blood Peripheral blood ARHGAP31 Homo sapiens
Periventricular Nodular Heterotopia and Transverse Limb Reduction Defect in a Woman With Interstitial 11q24 Deletion in the Jacobsen Syndrome Region Upper and Lower Limb Reduction Defects Sanger sequencing,Genomic microarray Blood Peripheral blood FLNA Homo sapiens
Severe Ipsilateral Musculoskeletal Involvement in a Cornelia De Lange Patient With a Novel NIPBL Mutation Upper and Lower Limb Reduction Defects Exome sequencing, Sanger sequencing, Array compara Epithelial tissue / Blood Oral mucosa epithelial cells,Peripheral blood NIPBL Homo sapiens
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations Upper and Lower Limb Reduction Defects Whole exome sequencing?Sanger sequencing Not mentioned Not mentioned ESCO2 Homo sapiens
Upper Limb Phocomelia: A Prenatal Case of Thrombocytopenia-Absent Radius (TAR) Syndrome Illustrating the Importance of Chromosomal Microarray in Limb Reduction Defects Upper and Lower Limb Reduction Defects Array-CGH Liver Others RBM8A Homo sapiens
ShenZhen, Guangdong province, China