Kim L McBride

Summary

Affiliation: Nationwide Children's Hospital
Country: USA

Publications

  1. pmc Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects
    Kim 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
  2. doi request reprint Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
    Kim 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
  3. pmc 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
  4. doi request reprint The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
    Elizabeth 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
  5. pmc NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling
    Kim 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
  6. pmc NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT
    Maurisa F Riley
    Department of Molecular Genetics, Ohio State University, Columbus, OH, USA
    Biochim Biophys Acta 1812:121-9. 2011
  7. pmc Contactin 4 as an autism susceptibility locus
    Catherine E Cottrell
    Department of Pathology and Laboratory Medicine, Nationwide Children s Hospital, Columbus, Ohio, USA
    Autism Res 4:189-99. 2011
  8. pmc Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001
    Kim 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
  9. pmc Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions
    Mark B Lewin
    Division of Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    Pediatrics 114:691-6. 2004
  10. pmc Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption
    Brian Becknell
    Department of Pediatrics, College of Medicine and Public Health, The Ohio State University, Columbus, Ohio 43205, USA
    Kidney Int 79:120-7. 2011

Collaborators

Detail Information

Publications21

  1. pmc Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects
    Kim 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...
  2. doi request reprint Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
    Kim 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...
  3. pmc 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...
  4. doi request reprint The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
    Elizabeth 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...
  5. pmc NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling
    Kim 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...
  6. pmc NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT
    Maurisa F Riley
    Department of Molecular Genetics, Ohio State University, Columbus, OH, USA
    Biochim Biophys Acta 1812:121-9. 2011
    ....
  7. pmc Contactin 4 as an autism susceptibility locus
    Catherine 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...
  8. pmc Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001
    Kim 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...
  9. pmc Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions
    Mark B Lewin
    Division of Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    Pediatrics 114:691-6. 2004
    ..This study sought to define the incidence of cardiac anomalies in first-degree relatives of children with congenital aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS)...
  10. pmc Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption
    Brian 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...
  11. ncbi request reprint 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...
  12. pmc Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos
    David 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...
  13. doi request reprint Genetic abnormalities in FOXP1 are associated with congenital heart defects
    Sheng Wei Chang
    Center for Cardiovascular and Pulmonary Research and the Heart Center, Nationwide Children s Hospital, Columbus, Ohio, USA
    Hum Mutat 34:1226-30. 2013
    ..Pro596Ser mutant protein displayed deficits in luciferase reporter assays and resulted in increased proliferation and Nkx2.5 expression in cardiomyoblasts. Our data suggest that haploinsufficiency of FOXP1 is associated with human CHD...
  14. pmc Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster
    Michelle B Polan
    Division of Molecular and Human Genetics, The Research Institute, Nationwide Children s Hospital, Columbus, OH, USA
    Eur J Hum Genet 22:105-9. 2014
    ..We hypothesize that the duplication acts through a dosage effect of GABAA receptor subunit genes, adding evidence for alterations in the GABAergic system in the etiology of neurodevelopmental disorders...
  15. pmc Cardiac teratogenicity in mouse maternal phenylketonuria: defining phenotype parameters and genetic background influences
    Nikki 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...
  16. doi request reprint Pediatric sub-specialist controversies in the treatment of congenital heart disease in trisomy 13 or 18
    Andrew 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...
  17. doi request reprint Parental knowledge and attitudes toward hypertrophic cardiomyopathy genetic testing
    Sara 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...
  18. pmc 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 America
    Yan 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...
  19. ncbi request reprint Heritability of plasma amino acid levels in different nutritional states
    Kim 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
    ....
  20. ncbi request reprint Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia
    Andrew 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...
  21. doi request reprint Understanding of informed consent by parents of children enrolled in a genetic biobank
    Jennifer Klima
    1 Center for Innovation in Pediatric Practice, Nationwide Children s Hospital, Columbus, Ohio, USA 2 Present address OhioHealth Research and Innovations Institute, Columbus, Ohio, USA
    Genet Med 16:141-8. 2014
    ..Conclusion:Parents overestimate personal benefit and underestimate the risks associated with their child's participation in a biobanking study.Genet Med 16 2, 141-148. ..