Kim L. McBride
Publications by Year
Research Areas
Congenital heart defects research, Congenital Heart Disease Studies, Genomic variations and chromosomal abnormalities, Lysosomal Storage Disorders Research, Genomics and Rare Diseases
Most-Cited Works
- → 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(2007)465 cited
- → The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly(2009)297 cited
- → Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)(2018)276 cited
- → Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly(2010)234 cited
- → Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability(2005)231 cited
- → NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling(2008)209 cited
- → Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities(2010)167 cited
- → Does Intranasal Application of Zinc Sulfate Produce Anosmia in the Mouse? An Olfactometric and Anatomical Study(2003)142 cited
- → Genetic testing in autism: how much is enough?(2007)111 cited
- → Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome)(2009)90 cited