Kim L. McBride

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, Erwin K. Chung, Yee Ling Wu et al. · The American Journal of Human Genetics · 2007 · 457 citations · Full text

Gene Copy-number Variation, Sle Susceptibility, Allelic Variant +14

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, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

Matthew Pastore, Thomas W. Prior, Gail E. Herman et al. · Genetics in Medicine · 2009 · 288 citations · Full text

Neurodevelopmental Disorders, Autism Spectrum Disorders, Syndromic Autism +11

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Ray E. Hershberger, Michael M. Givertz, Carolyn Y. Ho et al. · Genetics in Medicine · 2018 · 273 citations · Full text

Cardiomyopathy, Cardiovascular Disease, Genetics +9

Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability

Kim L. McBride, Ricardo H. Pignatelli, Mark Lewin et al. · American Journal of Medical Genetics Part A · 2005 · 231 citations · Full text