Published in Am J Hum Genet on March 11, 2003
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet (2003) 1.90
Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population. Circ Cardiovasc Genet (2012) 1.57
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. Cardiol Young (2011) 1.44
The matricellular protein CCN1 is essential for cardiac development. Circ Res (2006) 1.41
The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion. Differentiation (2012) 1.34
Genetics of congenital heart disease. Curr Cardiol Rev (2010) 1.23
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet (2008) 1.14
Rare variants in NR2F2 cause congenital heart defects in humans. Am J Hum Genet (2014) 1.14
Of mice and men: molecular genetics of congenital heart disease. Cell Mol Life Sci (2013) 1.10
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am J Hum Genet (2012) 1.01
Genetic basis of congenital cardiovascular malformations. Eur J Med Genet (2014) 1.00
Familial recurrence of congenital heart disease: an overview and review of the literature. Eur J Pediatr (2006) 1.00
Genome-wide identification of mouse congenital heart disease loci. Hum Mol Genet (2010) 0.94
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Res (2013) 0.92
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p. Hum Genet (2007) 0.88
3p-- syndrome defines a hearing loss locus in 3p25.3. Hear Res (2007) 0.88
Genetic testing in congenital heart disease: A clinical approach. World J Cardiol (2016) 0.88
A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome. Med Mol Morphol (2014) 0.83
Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome. Am J Med Genet A (2012) 0.82
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect. Genet Med (2015) 0.81
Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects. AIMS Genet (2014) 0.80
Genomic scan reveals loci under altitude adaptation in Tibetan and Dahe pigs. PLoS One (2014) 0.80
Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects. G3 (Bethesda) (2015) 0.78
Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders. Cold Spring Harb Perspect Med (2014) 0.77
"Down syndrome: an insight of the disease". J Biomed Sci (2015) 0.77
The Dorsal Mesenchymal Protrusion and the Pathogenesis of Atrioventricular Septal Defects. J Cardiovasc Dev Dis (2016) 0.76
Penetrance of Congenital Heart Disease in a Mouse Model of Down Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier. Genetics (2016) 0.76
Transgenerational cardiology: One way to a baby's heart is through the mother. Mol Cell Endocrinol (2016) 0.75
Duplication and deletion of CFC1 associated with heterotaxy syndrome. DNA Cell Biol (2014) 0.75
Role of an ER stress response element in regulating the bidirectional promoter of the mouse CRELD2 - ALG12 gene pair. BMC Genomics (2010) 0.75
The determination factors of left-right asymmetry disorders- a short review. Clujul Med (2017) 0.75
Associations of NKX2-5 Genetic Polymorphisms with the Risk of Congenital Heart Disease: A Meta-analysis. Pediatr Cardiol (2016) 0.75
Molecular regulation of atrioventricular valvuloseptal morphogenesis. Circ Res (1995) 2.98
The human gene mutation database. Trends Genet (1997) 2.72
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet (2000) 1.92
Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. Hum Genet (1994) 1.72
Two infants with del(3)(p25pter) and a review of previously reported cases. Am J Med Genet (1989) 1.52
Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res (1998) 1.49
Down syndrome congenital heart disease: a narrowed region and a candidate gene. Genet Med (2001) 1.49
Molecular genetic analysis of the 3p- syndrome. Hum Mol Genet (1994) 1.40
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet (2002) 1.36
Genetic aspects of atrioventricular septal defects. Am J Med Genet (2000) 1.27
Evidence of congenital heart disease in the offspring of parents with atrioventricular defects. Br Heart J (1983) 1.13
Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. Hum Mol Genet (1997) 1.11
Detailed mapping of a congenital heart disease gene in chromosome 3p25. J Med Genet (2000) 1.05
Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins. Gene (2002) 1.03
Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome. J Med Genet (1996) 1.03
Autosomal dominant inheritance of endocardial cushion defect. Birth Defects Orig Artic Ser (1977) 1.01
A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21. Am J Hum Genet (1993) 1.00
Atrioventricular canal defect without Down syndrome: a heterogeneous malformation. Am J Med Genet (1999) 1.00
Congenital Heart Surgery Nomenclature and Database Project: atrioventricular canal defect. Ann Thorac Surg (2000) 0.97
Cardiac morphogenesis and dysmorphogenesis. I. Normal development. Methods Mol Biol (2000) 0.93
Familial atrioventricular septal defect: possible genetic mechanisms. Br Heart J (1994) 0.93
Endocardial cushion tissue development: structural analyses on the attachment of extracellular matrix to migrating mesenchymal cell surfaces. Scan Electron Microsc (1981) 0.93
Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p. Am J Med Genet (1995) 0.81
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res (2009) 4.32
Prevalence of colon polyps detected by colonoscopy screening in asymptomatic black and white patients. JAMA (2008) 3.53
An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science (2009) 3.29
Utilization of colonoscopy in the United States: results from a national consortium. Gastrointest Endosc (2005) 3.23
Pompe disease diagnosis and management guideline. Genet Med (2006) 3.03
Accuracy of plasma B-type natriuretic peptide to diagnose significant cardiovascular disease in children: the Better Not Pout Children! Study. J Am Coll Cardiol (2009) 2.41
NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol (2003) 2.09
Office-based unsedated small-caliber endoscopy is equivalent to conventional sedated endoscopy in screening and surveillance for Barrett's esophagus: a randomized and blinded comparison. Am J Gastroenterol (2006) 2.07
The importance of nomenclature for congenital cardiac disease: implications for research and evaluation. Cardiol Young (2008) 1.92
Abortion, changed paternity, and risk of preeclampsia in nulliparous women. Am J Epidemiol (2003) 1.91
Endoscopic evaluation of patients with dyspepsia: results from the national endoscopic data repository. Gastroenterology (2004) 1.88
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet (2013) 1.82
Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol (2007) 1.71
Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome. Am J Med Genet (2002) 1.61
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. Am J Med Genet A (2013) 1.60
Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population. Circ Cardiovasc Genet (2012) 1.57
Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. Pediatr Res (2004) 1.57
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proc Natl Acad Sci U S A (2004) 1.56
Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. Genet Med (2009) 1.55
Prevalence of polyps greater than 9 mm in a consortium of diverse clinical practice settings in the United States. Clin Gastroenterol Hepatol (2005) 1.55
Ambient air pollution and cardiovascular malformations in Atlanta, Georgia, 1986-2003. Am J Epidemiol (2009) 1.54
Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors. J Genet Couns (2002) 1.51
Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation (2002) 1.51
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation (2003) 1.45
"I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients. Neurology (2011) 1.43
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet (2008) 1.43
A cross-sectional analysis of the prevalence of Barrett esophagus in otolaryngology patients with laryngeal symptoms. J Clin Gastroenterol (2013) 1.40
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet (2012) 1.38
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome. J Biol Chem (2005) 1.38
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet A (2006) 1.37
The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circ Res (2013) 1.35
Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms. Ann Thorac Surg (2011) 1.32
Improving the quality of surveillance data on congenital heart defects in the metropolitan Atlanta congenital defects program. Birth Defects Res A Clin Mol Teratol (2007) 1.32
Association between cardiac tumors and tuberous sclerosis in the fetus and neonate. Am J Cardiol (2003) 1.30
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet (2012) 1.29
Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev (2008) 1.29
Screening and treatment for lipid disorders in children and adolescents: systematic evidence review for the US Preventive Services Task Force. Pediatrics (2007) 1.25
Dietary restriction alters demographic but not behavioral aging in Drosophila. Aging Cell (2007) 1.24
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Hum Mol Genet (2011) 1.23
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab (2009) 1.21
The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II. Am Heart J (2011) 1.17
Aortic root dilation in patients with 22q11.2 deletion syndrome. Am J Med Genet A (2009) 1.14
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging (2004) 1.12
Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. J Pediatr (2004) 1.12
Turner syndrome is an independent risk factor for aortic dilation in the young. Pediatrics (2008) 1.11
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. Hum Mol Genet (2009) 1.09
Quantifying pulmonary regurgitation and right ventricular function in surgically repaired tetralogy of Fallot: a comparative analysis of echocardiography and magnetic resonance imaging. Circ Cardiovasc Imaging (2012) 1.09
Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. Mol Genet Metab (2003) 1.08
Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study. Orphanet J Rare Dis (2012) 1.06
Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle. Circulation (2011) 1.06
A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. J Lipid Res (2005) 1.06
Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions. Ann Thorac Surg (2009) 1.06
Late effects in survivors of tandem peripheral blood stem cell transplant for high-risk neuroblastoma. Pediatr Blood Cancer (2008) 1.05
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Hum Mutat (2010) 1.05
The 22q11.2 deletion in African-American patients: an underdiagnosed population? Am J Med Genet A (2005) 1.05
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat (2011) 1.05
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). J Inherit Metab Dis (2011) 1.04
Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins. Gene (2002) 1.03
Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria. J Int Neuropsychol Soc (2002) 1.03
Variants of folate metabolism genes and risk of left-sided cardiac defects. Birth Defects Res A Clin Mol Teratol (2010) 1.02
Laryngopharyngeal reflux symptoms better predict the presence of esophageal adenocarcinoma than typical gastroesophageal reflux symptoms. Ann Surg (2004) 1.02
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am J Hum Genet (2012) 1.01
Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects. J Biomed Biotechnol (2010) 1.01
Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association. Circulation (2013) 1.01
The effect of antireflux surgery on esophageal carcinogenesis in patients with barrett esophagus: a systematic review. Ann Surg (2007) 1.00
Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis? Am J Med Genet A (2005) 1.00
22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases. Pediatr Cardiol (2013) 1.00
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Genet Med (2010) 0.99
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med (2008) 0.98
Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev (2014) 0.98
Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis. J Neurosurg Pediatr (2013) 0.98
Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum. Mol Genet Metab (2010) 0.98
Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. Pediatr Res (2009) 0.97
ESI-MS/MS quantification of 7alpha-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis. Clin Chim Acta (2009) 0.97
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. Am J Hum Genet (2010) 0.97
Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics (2003) 0.96
Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry. J Thorac Cardiovasc Surg (2011) 0.96
Inhibitory control in children with phenylketonuria. Dev Neuropsychol (2006) 0.95
Liquid chromatography-tandem mass spectrometry determination of plasma 24S-hydroxycholesterol with chromatographic separation of 25-hydroxycholesterol. Anal Biochem (2008) 0.95
Manipulation of Sod1 expression ubiquitously, but not in the nervous system or muscle, impacts age-related parameters in Drosophila. FEBS Lett (2009) 0.94
Smoking before pregnancy and risk of gestational hypertension and preeclampsia. Am J Obstet Gynecol (2002) 0.94
Tricuspid annular plane systolic excursion in the assessment of right ventricular function in children and adolescents after repair of tetralogy of Fallot. J Am Soc Echocardiogr (2013) 0.94
Detection of ureaplasma DNA in endotracheal samples is associated with bronchopulmonary dysplasia after adjustment for multiple risk factors. Pediatr Res (2007) 0.94
Sterol metabolism disorders and neurodevelopment-an update. Dev Disabil Res Rev (2013) 0.93
A train the trainer model for integrating evidence-based medicine into a complementary and alternative medicine training program. Explore (NY) (2011) 0.93
Sod2 knockdown in the musculature has whole-organism consequences in Drosophila. Free Radic Biol Med (2009) 0.93
Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts. Mol Genet Metab (2002) 0.93
Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign. Arch Ophthalmol (2011) 0.93
Profiling sterols in cerebrotendinous xanthomatosis: utility of Girard derivatization and high resolution exact mass LC-ESI-MS(n) analysis. J Chromatogr B Analyt Technol Biomed Life Sci (2010) 0.92
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Hum Genet (2005) 0.92
22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot. J Thorac Cardiovasc Surg (2013) 0.91
A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. J Lipid Res (2013) 0.91
Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. J Lipid Res (2012) 0.91
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. J Inherit Metab Dis (2012) 0.91
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr (2002) 0.91
Smith-Lemli-Opitz syndrome. Expert Rev Mol Med (2011) 0.90
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. Am J Med Genet A (2004) 0.90
A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome. J Mol Cell Cardiol (2008) 0.90