Alan F. Rope

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Alan F. Rope, Kai Wang, Rune Evjenth et al. · The American Journal of Human Genetics · 2011 · 256 citations · Full text

Developmental Biology, N-terminal Acetyltransferase Deficiency, Mendelian Disorder +9

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce Turner et al. · Human Mutation · 2010 · 127 citations · Full text

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Jason O'Rawe, Yiyang Wu, Max J. Dörfel et al. · The American Journal of Human Genetics · 2015 · 125 citations · Full text

7q11.23 Duplication syndrome: Physical characteristics and natural history

Colleen A. Morris, Carolyn Β. Mervis, Alex P. Paciorkowski et al. · American Journal of Medical Genetics Part A · 2015 · 99 citations

Association of Anterior Glottic Webs with Velocardiofacial Syndrome (Chromosome 22q11.2 Deletion)

Richard Miyamoto, Robin T. Cotton, Alan F. Rope et al. · Otolaryngology · 2004 · 96 citations

Genetics, Genetic Epidemiology, Diagnosis +19