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 · 734 citations · Full text

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

Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal et al. · Cell · 2012 · 586 citations · Full text

Developmental Anomaly, Confer Risk, Developmental Biology +12

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

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

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 · 287 citations · Full text

Disease Diagnosis, Rare Diseases, Medicine +8

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 · 256 citations

Translational Medicine, Gentamicin Treatment, Mendelian Disorder +15