Rahat Perveen

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Juha Kolehmainen, Graeme C. Black, Anne Saarinen et al. · The American Journal of Human Genetics · 2003 · 373 citations · Full text

Cohen Syndrome Is, Molecular Physiology, Disease Mechanism +10

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

David Ng, Nalin Thakker, Connie M. Corcoran et al. · Nature Genetics · 2004 · 320 citations · Full text

Mendelian Disorder, Lenz Microphthalmia Syndromes, Distinct Classes +8

Mutations of <i>VMD2</i> Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Jill Yardley, Bart P. Leroy, Niki Hart‐Holden et al. · Investigative Ophthalmology & Visual Science · 2004 · 226 citations · Full text

Impaired Binding of the Age-related Macular Degeneration-associated Complement Factor H 402H Allotype to Bruch's Membrane in Human Retina

Simon J. Clark, Rahat Perveen, Svetlana Hakobyan et al. · Journal of Biological Chemistry · 2010 · 180 citations · Full text

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar et al. · Ophthalmology · 2016 · 164 citations · Full text