Research Topics
Genomes and Genes | Kim L McBrideSummaryAffiliation: Nationwide Children's Hospital Country: USA Publications
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Publications
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephalyKim L McBride
Center for Molecular and Human Genetics, Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
Autism Res 3:137-41. 2010..We recommend testing for mutations in PTEN for individuals with ASD or MR/DD and macrocephaly. If mutations are found, other family members should be offered testing and the adults offered cancer screening if they have a PTEN mutation...
Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome)Kim L McBride
Center for Molecular and Human Genetics, The Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
Eur J Hum Genet 17:811-9. 2009..Overlapping linkage peaks provide evidence for a common genetic etiology...- Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defectsKim L McBride
Center for Molecular and Human Genetics, Nationwide Children s Hospital, Department of Pediatrics, Ohio State University, Columbus, Ohio 43205, USA
Birth Defects Res A Clin Mol Teratol 91:162-8. 2011..They are common and cause substantial morbidity and mortality. Prior evidence suggests a strong genetic component in their causation... - The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephalyElizabeth A Varga
Center for Molecular and Human Genetics, The Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
Genet Med 11:111-7. 2009..To define the prevalence of PTEN mutations in a clinical cohort of pediatric subjects with autism spectrum disorders (ASDs), developmental delay/mental retardation (DD/MR), and/or macrocephaly and to assess genotype-phenotype correlations... - NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signalingKim L McBride
Center for Molecular and Human Genetics, The Research Institute at Nationwide Children s Hospital, Columbus, OH, USA
Hum Mol Genet 17:2886-93. 2008..These results also establish for the first time that AVS, COA and HLHS can share a common pathogenetic mechanism at the molecular level, explaining observations of these defects co-occurring within families... - NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMTMaurisa F Riley
Department of Molecular Genetics, Ohio State University, Columbus, OH, USA
Biochim Biophys Acta 1812:121-9. 2011.... - Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesionsMark B Lewin
Division of Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
Pediatrics 114:691-6. 2004..The parents and siblings of affected patients should be screened by echocardiography as the presence of an asymptomatic BAV may carry a significant long-term health risk... - Contactin 4 as an autism susceptibility locusCatherine E Cottrell
Department of Pathology and Laboratory Medicine, Nationwide Children s Hospital, Columbus, Ohio, USA
Autism Res 4:189-99. 2011..Thus, additional larger studies will be necessary to determine whether CNTN4 functions as an autism susceptibility locus in combination with other genetic and/or environmental factors... - Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001Kim L McBride
Department of Molecular and Human Genetics, Columbus Children s Research Institute, Ohio State University, 43205, USA
Birth Defects Res A Clin Mol Teratol 73:555-61. 2005..The Texas Birth Defects Registry, an active surveillance program, enables study in a large, diverse population including Hispanics... - Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruptionBrian Becknell
Department of Pediatrics, College of Medicine and Public Health, The Ohio State University, Columbus, Ohio 43205, USA
Kidney Int 79:120-7. 2011..Hence, COL4A5 mutation analysis should be considered when glomerulonephritis presents in an X-linked inheritance pattern, even with a presentation distinct from Alport syndrome... - Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryosDavid Cunningham
Department of Pediatrics, The Research Institute at Nationwide Children s Hospital, The Ohio State University, Columbus, OH 43205, USA
Hum Mol Genet 19:364-73. 2010..283 mm(2); P = 0.024). These data demonstrate significant effects of the mother and fetal membranes on pregnancy outcome, with possible implications for cholesterol homeostasis during human pregnancy... 
Genetic testing in autism: how much is enough?Gail E Herman
Center for Molecular and Human Genetics, Columbus Children s Research Institute, Columbus, Ohio 43205, USA
Genet Med 9:268-74. 2007..To evaluate the yield of genetic testing in children with autism spectrum disorders...- Parental knowledge and attitudes toward hypertrophic cardiomyopathy genetic testingSara M Fitzgerald-Butt
Center for Molecular and Human Genetics, The Research Institute at Nationwide Children s Hospital, Columbus, OH, USA
Pediatr Cardiol 31:195-202. 2010..This study provides healthcare providers with a framework to understand caregivers' knowledge and views of genetic testing, which can be used to improve clinical care for pediatric HCM patients... - Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European AmericaYan Yang
Center for Molecular and Human Genetics, Columbus Children s Research Institute, Columbus, OH 43205, USA
Am J Hum Genet 80:1037-54. 2007..This work demonstrates how gene CNV and its related polymorphisms are associated with the susceptibility to a human complex disease... - Heritability of plasma amino acid levels in different nutritional statesKim L McBride
Center for Molecular and Human Genetics, Columbus Children s Research Institute, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
Mol Genet Metab 90:217-20. 2007.... - Renal anomalies in family members of infants with bilateral renal agenesis/adysplasiaAndrew L Schwaderer
Division of Nephrology, Department of Pediatrics, Columbus Children s Hospital, The Ohio State University College of Medicine, 700 Children s Drive, Columbus, OH 43205, USA
Pediatr Nephrol 22:52-6. 2007..The increased prevalence of a range of renal anomalies within affected families raises the possibility that isolated renal malformations result from unidentified gene-environment interactions... - Pediatric sub-specialist controversies in the treatment of congenital heart disease in trisomy 13 or 18Andrew R Yates
Nationwide Children s Hospital and Research Institute, Columbus, OH, USA
J Genet Couns 20:495-509. 2011..Parental wishes that "everything be done" significantly influenced all specialists' recommendations... - Cardiac teratogenicity in mouse maternal phenylketonuria: defining phenotype parameters and genetic background influencesNikki J Seagraves
Center for Molecular and Human Genetics, Nationwide Children s Hospital, USA
Mol Genet Metab 107:650-8. 2012..We have delineated key parameters of Phe cardiovascular teratogenicity, demonstrated the utility of this MPKU model on different mouse strains, and shown how genetic background profoundly affects the phenotype...