Rahat Perveen
Manchester Academic Health Science Centre(GB)University of Manchester(GB)St Mary's Hospital(GB)Manchester University NHS Foundation Trust(GB)St Mary's Hospital(GB)St. Mary's Hospital(GB)
Publications by Year
Research Areas
Retinal Development and Disorders, Connexins and lens biology, Ocular Disorders and Treatments, Genomics and Rare Diseases, Retinal Diseases and Treatments
Most-Cited Works
- → 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(2003)374 cited
- → Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR(2004)321 cited
- → Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)(2004)226 cited
- → Impaired Binding of the Age-related Macular Degeneration-associated Complement Factor H 402H Allotype to Bruch's Membrane in Human Retina(2010)182 cited
- → Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease(2016)166 cited
- → A mutation in the RIEG1 gene associated with Peters’ anomaly(1999)155 cited