Rizwan Hamid

A copy number variation morbidity map of developmental delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan et al. · Nature Genetics · 2011 · 1.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Kimberly Splinter, David R. Adams, Carlos A. Bacino et al. · New England Journal of Medicine · 2018 · 374 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Fatty Acid Metabolic Defects and Right Ventricular Lipotoxicity in Human Pulmonary Arterial Hypertension

Evan L. Brittain, Megha Talati, Joshua P. Fessel et al. · Circulation · 2016 · 252 citations · Full text

Life Sciences, Biochemistry, Cardiology +17

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

Lisa Bastarache, Jacob Hughey, Scott J. Hebbring et al. · Science · 2018 · 239 citations

Life Sciences, Genetics, Health Informatics +17

Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females

Eric D. Austin, Joy D. Cogan, James West et al. · European Respiratory Journal · 2009 · 229 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13