Andrea Gropman

Phenotype and Course of Hutchinson–Gilford Progeria Syndrome

Melissa A. Merideth, Leslie B. Gordon, Sarah Clauss et al. · New England Journal of Medicine · 2008 · 741 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal et al. · Cell · 2012 · 600 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

William A. Gahl, Thomas C. Markello, Camilo Toro et al. · Genetics in Medicine · 2012 · 293 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations

Kathryn R. Wagner, Sherifa A. Hamed, Donald W. Hadley et al. · Annals of Neurology · 2001 · 259 citations

Life Sciences, Genetics, Pharmacotherapy +17