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 · 625 citations

Molecular Physiology, Genetics, Physiology +7

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 442 citations · Full text

Cardiomyopathy, Heart Failure, Cardiorenal Syndromes +8

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

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 · 185 citations · Full text

Cause Floating-harbor Syndrome, Molecular Physiology, Signal Transduction +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 · 161 citations · Full text