Margo L. Whiteford

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Lynn M. Boyden, Murim Choi, Keith A. Choate et al. · Nature · 2012 · 633 citations

Life Sciences, Genetics, Molecular Genetics +11

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 450 citations · Full text

Medicine, Cardiology, Genetics +11

Heterogeneity among patients with tumor necrosis factor receptor–associated periodic syndrome phenotypes

Ebun Aganna, L Hammond, Philip N. Hawkins et al. · Arthritis & Rheumatism · 2003 · 194 citations

Medicine, Immunology, Molecular Genetics +17

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel et al. · The American Journal of Human Genetics · 2012 · 187 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity

Jangsuk Oh, Lingling Ho, Sirpa Ala‐Mello et al. · The American Journal of Human Genetics · 1998 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16