Kandamurugu Manickam

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Kandamurugu Manickam, Monica R. McClain, Laurie Demmer et al. · Genetics in Medicine · 2021 · 629 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Noura S. Abul‐Husn, Kandamurugu Manickam, Laney K. Jones et al. · Science · 2016 · 428 citations

Medicine, Cardiology, Genetics +17

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

Natalia Gomez‐Ospina, Carol Potter, Rui Xiao et al. · Nature Communications · 2016 · 296 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Confirmation study of <i>PTEN</i> mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

Kim L. McBride, Matthew Pastore, Thomas W. Prior et al. · Autism Research · 2010 · 234 citations

Medicine, Genetics, Molecular Genetics +14

Exome Sequencing–Based Screening for <i>BRCA1/2</i> Expected Pathogenic Variants Among Adult Biobank Participants

Kandamurugu Manickam, Adam H. Buchanan, M. Schwartz et al. · JAMA Network Open · 2018 · 219 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17