Published in Am J Med Genet A on October 11, 2013
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. PLoS Genet (2016) 0.87
Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries. Mol Genet Genomic Med (2014) 0.80
Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion. BMC Med Genet (2014) 0.79
Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects. Biomed Res Int (2015) 0.79
Genetic variants at 10p11 confer risk of Tetralogy of Fallot in Chinese of Nanjing. PLoS One (2014) 0.78
Transposition of the great arteries in a neonate with Klinefelter syndrome-an incidental finding or a true association. Am J Med Genet A (2014) 0.75
The importance of copy number variation in congenital heart disease. NPJ Genom Med (2016) 0.75
Mutation Screening of Gata4 Gene in CTD Patients Within Chinese Han Population. Pediatr Cardiol (2017) 0.75
Gene prioritization through genomic data fusion. Nat Biotechnol (2006) 7.48
ToppGene Suite for gene list enrichment analysis and candidate gene prioritization. Nucleic Acids Res (2009) 7.34
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature (2003) 6.40
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet (2000) 6.21
Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study. Am J Epidemiol (1985) 4.78
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell (2001) 4.60
Role of TBX1 in human del22q11.2 syndrome. Lancet (2003) 4.45
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature (2001) 4.41
Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005. J Pediatr (2008) 3.87
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet (2009) 3.86
Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet (2003) 3.27
Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract. Development (2004) 2.62
High-resolution genomic profiles of breast cancer cell lines assessed by tiling BAC array comparative genomic hybridization. Genes Chromosomes Cancer (2007) 2.34
The Slug gene is not essential for mesoderm or neural crest development in mice. Dev Biol (1998) 2.13
Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet (2007) 2.10
GATA4 sequence variants in patients with congenital heart disease. J Med Genet (2007) 2.08
A set of BAC clones spanning the human genome. Nucleic Acids Res (2004) 2.00
Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res (2007) 1.96
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet (2012) 1.92
Sex differences in the prevalence of human birth defects: a population-based study. Teratology (2001) 1.85
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr (2011) 1.84
Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A (2003) 1.72
SOX7 transcription factor: sequence, chromosomal localisation, expression, transactivation and interference with Wnt signalling. Nucleic Acids Res (2001) 1.71
SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet (2002) 1.64
A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot. Hum Mutat (2006) 1.64
Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J Med Genet (2005) 1.62
GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet (1999) 1.59
22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia. Heart (2010) 1.58
Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes. Dev Cell (2006) 1.55
Pathogenetic mechanisms of congenital cardiovascular malformations revisited. Semin Perinatol (1996) 1.51
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation. J Med Genet (2007) 1.40
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A (2009) 1.40
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet (2007) 1.36
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J Med Genet (2009) 1.34
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities. Am J Hum Genet (2007) 1.34
SOX7 and SOX18 are essential for cardiogenesis in Xenopus. Dev Dyn (2005) 1.17
Another critical region for deletion of 22q11: a study of 100 patients. Am J Med Genet (1997) 1.14
Characterization CSMD1 in a large set of primary lung, head and neck, breast and skin cancer tissues. Cancer Biol Ther (2009) 1.14
Focal adhesion kinase is required for neural crest cell morphogenesis during mouse cardiovascular development. J Clin Invest (2009) 1.09
Chromosomal abnormalities among children born with conotruncal cardiac defects. Birth Defects Res A Clin Mol Teratol (2009) 1.02
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet (2011) 1.01
A homeodomain-zinc finger protein, ZFHX4, is expressed in neuronal differentiation manner and suppressed in muscle differentiation manner. Biol Pharm Bull (2006) 0.99
Molecular embryogenesis of the heart. Pediatr Dev Pathol (2002) 0.98
SLUG (SNAI2) overexpression in embryonic development. Cytogenet Genome Res (2006) 0.98
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1. Am J Med Genet A (2012) 0.95
Collaboratively charting the gene-to-phenotype network of human congenital heart defects. Genome Med (2010) 0.92
Slug expression during organogenesis in mice. Anat Rec A Discov Mol Cell Evol Biol (2003) 0.92
Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2. Clin Genet (2010) 0.92
Congenital heart disease in the 48,XXYY syndrome. Clin Genet (1995) 0.90
8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families. Mol Cytogenet (2010) 0.90
Congenital heart disease in 49, XXXXY syndrome. Pediatrics (1975) 0.88
Periconceptional nutrient intakes and risks of conotruncal heart defects. Birth Defects Res A Clin Mol Teratol (2010) 0.85
Epidemiologic characteristics of conotruncal heart defects in California, 1987-1988. Teratology (1996) 0.82
Sex differences in the prevalence of congenital anomalies: a population-based study. Birth Defects Res A Clin Mol Teratol (2011) 0.81
BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome. Eur J Med Genet (2011) 0.81
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet (2002) 6.29
Ambient air pollution and risk of birth defects in Southern California. Am J Epidemiol (2002) 3.43
HLA class II polymorphisms associated with the physiologic characteristics defined by Traditional Chinese Medicine: linking modern genetics with an ancient medicine. J Altern Complement Med (2007) 2.61
Prepregnancy obesity as a risk factor for structural birth defects. Arch Pediatr Adolesc Med (2007) 2.43
Neural tube defects and folate: case far from closed. Nat Rev Neurosci (2006) 2.30
Integrin-driven actin polymerization consolidates long-term potentiation. Proc Natl Acad Sci U S A (2006) 1.99
Mechanisms of late-onset cognitive decline after early-life stress. J Neurosci (2005) 1.98
Prevalence of spina bifida and anencephaly during the transition to mandatory folic acid fortification in the United States. Teratology (2002) 1.94
Maternal periconceptional vitamins: interactions with selected factors and congenital anomalies? Epidemiology (2002) 1.93
Control selection and participation in an ongoing, population-based, case-control study of birth defects: the National Birth Defects Prevention Study. Am J Epidemiol (2009) 1.93
The continuing challenge of understanding, preventing, and treating neural tube defects. Science (2013) 1.86
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. BMC Med Genet (2009) 1.74
Neural tube defects and maternal folate intake among pregnancies conceived after folic acid fortification in the United States. Am J Epidemiol (2008) 1.69
Maternal smoking and environmental tobacco smoke exposure and the risk of orofacial clefts. Epidemiology (2007) 1.67
Maternal smoking and the risk of orofacial clefts: Susceptibility with NAT1 and NAT2 polymorphisms. Epidemiology (2004) 1.63
NAT2 variation and idiopathic talipes equinovarus (clubfoot). Am J Med Genet A (2007) 1.57
Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004. Am J Med Genet A (2009) 1.55
Schizencephaly: heterogeneous etiologies in a population of 4 million California births. Am J Med Genet A (2005) 1.55
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum Mol Genet (2009) 1.55
Prevalence of spina bifida among children and adolescents in 10 regions in the United States. Pediatrics (2010) 1.43
Diacylglycerol kinase K variants impact hypospadias in a California study population. J Urol (2012) 1.43
Epidemiologic characteristics of congenital diaphragmatic hernia among 2.5 million California births, 1989-1997. Birth Defects Res A Clin Mol Teratol (2006) 1.43
A novel mechanism for the facilitation of theta-induced long-term potentiation by brain-derived neurotrophic factor. J Neurosci (2004) 1.42
Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. Am J Med Genet A (2010) 1.40
Hypospadias in California: trends and descriptive epidemiology. Epidemiology (2003) 1.39
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet (2012) 1.39
Intracellular Zn2+ accumulation contributes to synaptic failure, mitochondrial depolarization, and cell death in an acute slice oxygen-glucose deprivation model of ischemia. J Neurosci (2009) 1.36
Maternal corticosteroid use and orofacial clefts. Am J Obstet Gynecol (2007) 1.34
Neural tube defects and maternal residential proximity to agricultural pesticide applications. Am J Epidemiol (2006) 1.31
Anencephaly and spina bifida among Hispanics: maternal, sociodemographic, and acculturation factors in the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol (2009) 1.31
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet (2006) 1.29
Conservative versus surgical management of Pipkin type I fractures associated with posterior dislocation of the hip: a randomised controlled trial. Int Orthop (2010) 1.26
Agenesis of the corpus callosum in California 1983-2003: a population-based study. Am J Med Genet A (2008) 1.25
Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects. Mol Genet Metab (2003) 1.25
Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis. Birth Defects Res A Clin Mol Teratol (2006) 1.25
Patterns of infantile hemangiomas: new clues to hemangioma pathogenesis and embryonic facial development. Pediatrics (2006) 1.24
Comprehensive EMX2 genotyping of a large schizencephaly case series. Am J Med Genet A (2007) 1.22
Integration of DNA sample collection into a multi-site birth defects case-control study. Teratology (2002) 1.22
The association of ambient air pollution and traffic exposures with selected congenital anomalies in the San Joaquin Valley of California. Am J Epidemiol (2013) 1.21
Increasing prevalence of gastroschisis: population-based study in California. J Pediatr (2008) 1.21
Interleukin-1B and interleukin-1 RN polymorphisms and gastric carcinoma risk: a meta-analysis. J Gastroenterol Hepatol (2010) 1.20
Association between a leukotriene C4 synthase gene promoter polymorphism and coronary artery calcium in young women: the Muscatine Study. Arterioscler Thromb Vasc Biol (2006) 1.19
Bayesian methods for correcting misclassification: an example from birth defects epidemiology. Epidemiology (2009) 1.19
Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes. Am J Med Genet A (2005) 1.18
MicroRNA-155 silencing enhances inflammatory response and lipid uptake in oxidized low-density lipoprotein-stimulated human THP-1 macrophages. J Investig Med (2010) 1.17
Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence. Birth Defects Res A Clin Mol Teratol (2012) 1.17
Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am J Med Genet (2002) 1.17
Folic acid in early pregnancy: a public health success story. FASEB J (2010) 1.16
Maternal occupational exposure to polycyclic aromatic hydrocarbons: effects on gastroschisis among offspring in the National Birth Defects Prevention Study. Environ Health Perspect (2012) 1.16
A genome-wide association study (GWAS) for bronchopulmonary dysplasia. Pediatrics (2013) 1.15
Maternal periconceptional smoking and alcohol consumption and risk for select congenital anomalies. Birth Defects Res A Clin Mol Teratol (2008) 1.15
Neural tube defects: an analysis of neighbourhood- and individual-level socio-economic characteristics. Paediatr Perinat Epidemiol (2009) 1.14
Long-term potentiation is impaired in middle-aged rats: regional specificity and reversal by adenosine receptor antagonists. J Neurosci (2005) 1.14
Maternal reproductive and demographic characteristics as risk factors for hypospadias. Paediatr Perinat Epidemiol (2007) 1.13
Periconceptional multivitamin intake during early pregnancy, genetic variation of acetyl-N-transferase 1 (NAT1), and risk for orofacial clefts. Birth Defects Res A Clin Mol Teratol (2004) 1.13
Embryonic development of folate binding protein-1 (Folbp1) knockout mice: Effects of the chemical form, dose, and timing of maternal folate supplementation. Dev Dyn (2004) 1.10
SARM inhibits both TRIF- and MyD88-mediated AP-1 activation. Eur J Immunol (2010) 1.08
Maternal stressful life events and risks of birth defects. Epidemiology (2007) 1.06
Proline accumulation is inhibitory to Arabidopsis seedlings during heat stress. Plant Physiol (2011) 1.05
Socio-economic status and risk of conotruncal heart defects and orofacial clefts. Paediatr Perinat Epidemiol (2003) 1.05
Whole genome microarray analysis, from neonatal blood cards. BMC Genet (2009) 1.05
Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies. Am J Med Genet A (2007) 1.05
Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? Am J Med Genet A (2005) 1.04
Maternal food insecurity is associated with increased risk of certain birth defects. J Nutr (2007) 1.04
Endothelial nitric oxide synthase (NOS3) genetic variants, maternal smoking, vitamin use, and risk of human orofacial clefts. Am J Epidemiol (2005) 1.04
Maternal progestin intake and risk of hypospadias. Arch Pediatr Adolesc Med (2005) 1.04
Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. Am J Med Genet A (2005) 1.04
Autoantibodies to folate receptor during pregnancy and neural tube defect risk. J Reprod Immunol (2008) 1.03
Chromosomal abnormalities among children born with conotruncal cardiac defects. Birth Defects Res A Clin Mol Teratol (2009) 1.02
Fractalkine receptor regulates microglial neurotoxicity in an experimental mouse glaucoma model. Glia (2014) 1.02
Ambient air pollution and traffic exposures and congenital heart defects in the San Joaquin Valley of California. Paediatr Perinat Epidemiol (2013) 1.02
High quality genome-wide genotyping from archived dried blood spots without DNA amplification. PLoS One (2013) 1.02
Protection of retinal ganglion cells and retinal vasculature by Lycium barbarum polysaccharides in a mouse model of acute ocular hypertension. PLoS One (2012) 1.01
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. Am J Med Genet A (2007) 1.01
Maternal occupational exposure to polycyclic aromatic hydrocarbons and risk of neural tube defect-affected pregnancies. Birth Defects Res A Clin Mol Teratol (2012) 1.00
Fetal constraint as a potential risk factor for craniosynostosis. Am J Med Genet A (2010) 1.00