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Kim L. McBride

Researcher at Nationwide Children's Hospital

Publications -  128
Citations -  4952

Kim L. McBride is an academic researcher from Nationwide Children's Hospital. The author has contributed to research in topics: Gene & Medicine. The author has an hindex of 30, co-authored 112 publications receiving 4258 citations. Previous affiliations of Kim L. McBride include The Research Institute at Nationwide Children's Hospital & Baylor College of Medicine.

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Journal ArticleDOI

Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline

Ray E. Hershberger, +9 more
- 01 Mar 2009 - 
TL;DR: The clinical and genetic knowledge for each cardiomyopathy varies, as did the recommendations and strength of evidence, whereas ARVD/C and LVNC are relative newcomers to the field.
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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 Americans

Yan Yang, +22 more
- 01 Jun 2007 - 
TL;DR: Family-based association tests suggested that a specific haplotype with a single short C4B in tight linkage disequilibrium with the -308A allele of TNFA was more likely to be transmitted to patients with SLE.
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Catherine A. Brownstein, +210 more
- 25 Mar 2014 - 
TL;DR: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases and reveals a general convergence of practices on most elements of the analysis and interpretation process.
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The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

Elizabeth Varga, +4 more
- 01 Feb 2009 - 
TL;DR: PTEN gene sequencing has a high diagnostic yield when performed in a selected population of individuals with ASDs or DD/MR and macrocephaly, and Germline mutations in PTEN are an important, identifiable etiology among these patients.
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Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

Kim L. McBride, +11 more
- 01 Jun 2010 - 
TL;DR: This study reviewed the charts of individuals who had PTEN clinical sequencing performed at an institution from January 2008 to July 2009 and found PTEN mutations in 7/99 (7.1%) of individuals with ASD and 8/100 (8.0%) of Individuals with MR/DD, all of whom had macrocephaly.