Kim M. Keppler‐Noreuil

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Yaoqin Gong, Roger B. Slee, Georges Rawadi et al. · Cell · 2001 · 2.2K citations · Full text

Medicine, Developmental Biology, Endocrinology +10

A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome

Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer et al. · New England Journal of Medicine · 2011 · 887 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Guidelines for case classification for the national birth defects prevention study

Sonja A. Rasmussen, Richard S. Olney, Lewis B. Holmes et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2003 · 580 citations

Public Health, Genetics, Pediatrics +11

<i>PIK3CA</i>‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

Kim M. Keppler‐Noreuil, Jonathan J. Rios, Victoria Parker et al. · American Journal of Medical Genetics Part A · 2014 · 572 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17