Published in Am J Med Genet A on February 01, 2010
The trisomy 18 syndrome. Orphanet J Rare Dis (2012) 1.52
Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet (2012) 1.51
Selected birth defects data from population-based birth defects surveillance programs in the United States, 2006 to 2010: featuring trisomy conditions. Birth Defects Res A Clin Mol Teratol (2013) 1.10
Trends in survival among children with Down syndrome in 10 regions of the United States. Pediatrics (2012) 0.98
Major chromosomal anomalies among very low birth weight infants in the Vermont Oxford Network. J Pediatr (2011) 0.85
Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study. Am J Med Genet A (2015) 0.82
The natural history of pregnancies with a diagnosis of trisomy 18 or trisomy 13; a retrospective case series. BMC Pregnancy Childbirth (2013) 0.81
Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach. PLoS One (2014) 0.81
Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18. Am J Med Genet A (2015) 0.76
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A Cost-Effectiveness Analysis of First Trimester Non-Invasive Prenatal Screening for Fetal Trisomies in the United States. PLoS One (2015) 0.75
Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18. J Perinatol (2017) 0.75
Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments. Mol Med Rep (2016) 0.75
Diabetes mellitus and birth defects. Am J Obstet Gynecol (2008) 3.25
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.26
Achondroplasia. Lancet (2007) 2.22
Evidence-based reproductive health care in Cameroon: population-based study of awareness, use and barriers. Bull World Health Organ (2006) 2.19
Maternal exposure to ambient levels of benzene and neural tube defects among offspring: Texas, 1999-2004. Environ Health Perspect (2010) 2.16
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci (2006) 1.96
Lack of periconceptional vitamins or supplements that contain folic acid and diabetes mellitus-associated birth defects. Am J Obstet Gynecol (2011) 1.89
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2006) 1.85
Variation in IRF6 contributes to nonsyndromic cleft lip and palate. Am J Med Genet A (2005) 1.82
Residential mobility patterns and exposure misclassification in epidemiologic studies of birth defects. J Expo Sci Environ Epidemiol (2006) 1.79
Differences in exposure assignment between conception and delivery: the impact of maternal mobility. Paediatr Perinat Epidemiol (2010) 1.76
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Am J Hum Genet (2009) 1.73
Neural tube defects and maternal folate intake among pregnancies conceived after folic acid fortification in the United States. Am J Epidemiol (2008) 1.69
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet (2011) 1.66
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet (2013) 1.63
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing. Invest Ophthalmol Vis Sci (2011) 1.63
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2013) 1.60
Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophthalmol Vis Sci (2002) 1.58
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet (2009) 1.52
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci U S A (2002) 1.51
Mortality in achondroplasia study: a 42-year follow-up. Am J Med Genet A (2007) 1.49
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet (2010) 1.46
The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. Mol Vis (2007) 1.41
Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE. Invest Ophthalmol Vis Sci (2006) 1.41
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Hum Mol Genet (2008) 1.39
Association between prepregnancy body mass index and congenital heart defects. Am J Obstet Gynecol (2009) 1.38
Cartilage oligomeric matrix protein/thrombospondin 5 supports chondrocyte attachment through interaction with integrins. J Biol Chem (2005) 1.37
CRISPLD2: a novel NSCLP candidate gene. Hum Mol Genet (2007) 1.32
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
Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan. J Biol Chem (2007) 1.27
Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects. Mol Genet Metab (2003) 1.25
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genet (2008) 1.24
Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. Am J Hum Genet (2008) 1.21
Prevalence of nonsyndromic oral clefts in Texas: 1995-1999. Am J Med Genet A (2005) 1.21
Glucose regulation of load-induced mTOR signaling and ER stress in mammalian heart. J Am Heart Assoc (2013) 1.18
Multistate study of the epidemiology of clubfoot. Birth Defects Res A Clin Mol Teratol (2009) 1.18
Skeletal abnormalities in mice lacking extracellular matrix proteins, thrombospondin-1, thrombospondin-3, thrombospondin-5, and type IX collagen. Am J Pathol (2008) 1.17
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. PLoS One (2011) 1.16
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa. Mol Vis (2008) 1.15
The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. Hum Mol Genet (2002) 1.12
Idiopathic talipes equinovarus (ITEV) (clubfeet) in Texas. Am J Med Genet A (2005) 1.10
Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot). Clin Orthop Relat Res (2007) 1.10
Hereditary multiple exostosis and pain. J Pediatr Orthop (2005) 1.09
Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001. Birth Defects Res A Clin Mol Teratol (2005) 1.08
Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. Am J Med Genet (2002) 1.07
Folate pathway and nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol (2010) 1.06
The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex. Hum Mol Genet (2012) 1.06
Role of TSP-5/COMP in pseudoachondroplasia. Int J Biochem Cell Biol (2004) 1.06
Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex. Neurobiol Dis (2012) 1.05
Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet (2012) 1.04
Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? Invest Ophthalmol Vis Sci (2006) 1.04
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes. Am J Pathol (2007) 1.03
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. Invest Ophthalmol Vis Sci (2011) 1.01
Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate. Am J Med Genet A (2004) 1.01
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2013) 1.00
Phenotypic characterization of Class III patients. Angle Orthod (2006) 0.99
Genetic causes of nonsyndromic cleft lip with or without cleft palate. Adv Otorhinolaryngol (2011) 0.98
Variation in CASP10 gene is associated with idiopathic talipes equinovarus. J Pediatr Orthop (2005) 0.98
Heparan sulfate proteoglycans: key players in cartilage biology. Crit Rev Eukaryot Gene Expr (2005) 0.98
Maternal obesity, gestational diabetes, and central nervous system birth defects. Epidemiology (2005) 0.98
Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance. Eur J Hum Genet (2008) 0.97
Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. J Neurosci (2009) 0.97
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet (2005) 0.96
Disease-causing mutations in cartilage oligomeric matrix protein cause an unstructured Ca2+ binding domain. J Biol Chem (2002) 0.95
IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA. J Biol Chem (2008) 0.95
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene. Am J Ophthalmol (2005) 0.95
An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype. Am J Pathol (2009) 0.94
Polytomous logistic regression as a tool for exploring heterogeneity across birth defect subtypes: an example using anencephaly and spina bifida. Birth Defects Res A Clin Mol Teratol (2010) 0.94
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Mol Vis (2003) 0.93
Are children with birth defects at higher risk of childhood cancers? Am J Epidemiol (2012) 0.93
Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol (2010) 0.92
Nutrient intakes in women and congenital diaphragmatic hernia in their offspring. Birth Defects Res A Clin Mol Teratol (2008) 0.92
Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7. Arch Ophthalmol (2011) 0.92
Prevalence of infantile hypertrophic pyloric stenosis in Texas, 1999-2002. Birth Defects Res A Clin Mol Teratol (2008) 0.91
Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. Am J Med Genet A (2009) 0.91
Diabetes and obesity-related genes and the risk of neural tube defects in the national birth defects prevention study. Am J Epidemiol (2012) 0.90
In vivo human Cartilage oligomeric matrix protein (COMP) promoter activity. Matrix Biol (2005) 0.90
Selected birth defects data from population-based birth defects surveillance programs in the United States, 2005–2009: Featuring critical congenital heart defects targeted for pulse oximetry screening. Birth Defects Res A Clin Mol Teratol (2012) 0.90
Periconceptional use of weight loss products including ephedra and the association with birth defects. Birth Defects Res A Clin Mol Teratol (2008) 0.90
Birth defects data from population-based birth defects surveillance programs in the United States, 2007 to 2011: highlighting orofacial clefts. Birth Defects Res A Clin Mol Teratol (2014) 0.90
Nonsyndromic cleft lip and palate: four chromosomal regions of interest. Am J Med Genet A (2004) 0.90
Maternal fever during early pregnancy and the risk of oral clefts. Birth Defects Res A Clin Mol Teratol (2010) 0.89
Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa. Mol Vis (2013) 0.89
Maternal exposures to cigarette smoke, alcohol, and street drugs and neural tube defect occurrence in offspring. Matern Child Health J (2007) 0.89
MTHFR is not a risk factor in the development of isolated nonsyndromic cleft lip and palate. Am J Med Genet (2002) 0.89
Indications for genetic referral: a guide for healthcare providers. Genet Med (2007) 0.89
Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate. Eur J Hum Genet (2008) 0.88
Association between thyroxine levels at birth and choanal atresia or stenosis among infants in Texas, 2004-2007. Birth Defects Res A Clin Mol Teratol (2012) 0.88
COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. J Cell Biochem (2008) 0.88
Cell-type specific trafficking of expressed mutant COMP in a cell culture model for PSACH. Matrix Biol (2004) 0.87
A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. Mol Vis (2007) 0.87
Loss of β-catenin induces multifocal periosteal chondroma-like masses in mice. Am J Pathol (2012) 0.87
Promoter haplotype combinations for the human PDGFRA gene are associated with risk of neural tube defects. Mol Genet Metab (2004) 0.87