Rahat Perveen

2.5k citations

30 papers · 1.6k · h-index 18

Impact in

Ophthalmology top 1%
- Retinal Diseases and Treatments
- Glaucoma and retinal disorders
Genetics top 5%
- Ocular Disorders and Treatments
- Blood disorders and treatments
- Connective tissue disorders research

Papers in

Molecular Biology 17
- Retinal Development and Disorders 5
- Connexins and lens biology 5
Genetics 15
- Connective tissue disorders research 4
- Ocular Disorders and Treatments 4

Co-authors: Graeme C. Black (23 shared papers)I. Christopher Lloyd (4 shared papers)Jill Clayton‐Smith (6 shared papers)Simon J. Clark (4 shared papers)Anthony J. Day (4 shared papers)Dian Donnai (4 shared papers)Kate Chandler (3 shared papers)B. Paul Morgan (2 shared papers)
Journals: Investigative Ophthalmology & Visual Science (3 papers)Ophthalmology (2 papers)Human Molecular Genetics (2 papers)Human Mutation (2 papers)Clinical Genetics (2 papers)
Partner nations: United Kingdom United States Netherlands

In The Last Decade

Rahat Perveen

29 papers receiving 1.5k citations

Peers

Countries citing papers authored by Rahat Perveen

Since Specialization

Citations

This map shows the geographic impact of Rahat Perveen's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Rahat Perveen with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Rahat Perveen more than expected).

Fields of papers citing papers by Rahat Perveen

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Rahat Perveen. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Rahat Perveen. The network helps show where Rahat Perveen may publish in the future.

Co-authors

The 25 scholars most cited alongside Rahat Perveen, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Rahat Perveen Line = papers co-authored together Rahat Perveen links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 30 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	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 The American Journal of Human Genetics ·Juha Kolehmainen, Graeme C. Black, Anne Saarinen, Kate Chandler, Jill Clayton‐Smith, Ann‐Liz Träskelin, Rahat Perveen, Satu Kivitie‐Kallio, Reijo Norio, Mette Warburg, Jean‐Pierre Fryns, Albert de la Chapelle, Anna‐Elina Lehesjoki	2003	251
2	Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR Nature Genetics ·David Ng, Nalin Thakker, Connie M. Corcoran, Dian Donnai, Rahat Perveen, Adele Schneider, Donald W. Hadley, Cynthia J. Tifft, Liqun Zhang, Andrew O.M. Wilkie, Jasper J. van der Smagt, Robert J. Gorlin, Shawn M. Burgess, Vivian J. Bardwell, Graeme C. Black, Leslie G. Biesecker	2004	241
3	Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Investigative Ophthalmology & Visual Science ·Jill Yardley, Bart P. Leroy, Niki Hart‐Holden, B. A. Lafaut, Bart Loeys, Ludwine Messiaen, Rahat Perveen, M. Ashwin Reddy, Shomi S. Bhattacharya, Elias I. Traboulsi, Diana Baralle, Jean‐Jacques De Laey, Bernard Puech, Philippe Kestelyn, Anthony T. Moore, Forbes Manson, Graeme C. Black	2004	164
4	Impaired Binding of the Age-related Macular Degeneration-associated Complement Factor H 402H Allotype to Bruch's Membrane in Human Retina Journal of Biological Chemistry ·Simon J. Clark, Rahat Perveen, Svetlana Hakobyan, B. Paul Morgan, Robert B. Sim, (unknown), Anthony J. Day	2010	147
5	A mutation in the RIEG1 gene associated with Peters’ anomaly Journal of Medical Genetics ·W Doward, Rahat Perveen, I. Christopher Lloyd, A E Ridgway, Laura C. Wilson, Graeme C. Black	1999	118
6	Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease Ophthalmology ·Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, Simon G. Williams, Panagiotis I. Sergouniotis, James O’Sullivan, Janine A. Lamb, Rahat Perveen, Georgina Hall, William G. Newman, (unknown), Stephen A. Roberts, Rick Leach, Rick Tearle, S. C. Bayliss, Simon Ramsden, Andrea H. Németh, Graeme C. Black	2016	97
7	Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. PubMed ·Rahat Perveen, I. Christopher Lloyd, Jill Clayton‐Smith, A Churchill, Veronica van Heyningen, Isabel M. Hanson, David Taylor, C McKeown, M Super, Bronwyn Kerr, Robin Winter, Graeme C. Black	2000	97
8	Erosive Vitreoretinopathy and Wagner Disease Are Caused by Intronic Mutations inCSPG2/VersicanThat Result in an Imbalance of Splice Variants Investigative Ophthalmology & Visual Science ·Arijit Mukhopadhyay, Konstantinos Nikopoulos, Alessandra Maugeri, Arjan P.M. de Brouwer, C. E. Van Nouhuys, Camiel J.F. Boon, Rahat Perveen, Hester A. A. Zegers, D. Wittebol‐Post, P.R. van den Biesen, Saskia D. van der Velde-Visser, Han G. Brunner, Graeme C. Black, Carel B. Hoyng, Frans P.M. Cremers	2006	61
9	Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71 The American Journal of Human Genetics ·Darryl Nishimura, Lisa M. Baye, Rahat Perveen, Charles Searby, Almudena Ávila‐Fernández, Inés Pereiro, Carmen Ayuso, Diana Valverde, (unknown), Forbes Manson, Jill Urquhart, Edwin M. Stone, Diane C. Slusarski, Graeme C. Black, Val C. Sheffield	2010	59
10	Missense and nonsense mutations in the alternatively-spliced exon 2 ofCOL2A1cause the ocular variant of Stickler syndrome Human Mutation ·Audrey McAlinden, Marja Majava, (unknown), Rahat Perveen, Graeme C. Black, Mary Ella Pierpont, Leena Ala‐Kokko, Minna Männikkö	2007	46
11	A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding Human Molecular Genetics ·M. F. Lyon, Robyn V. Jamieson, Rahat Perveen, P. H. Glenister, Roland R. Griffiths, Yvonne Boyd, L H Glimcher, Jack Favor, F Munier, Graeme C. Black	2003	45
12	Refined Genetic and Physical Localization of the Wagner Disease (WGN1) Locus and the Genes CRTL1 and CSPG2 to a 2- to 2.5-cM Region of Chromosome 5q14.3 Genomics ·Rahat Perveen, Niki Hart‐Holden, Michael J. Dixon, Wojtek Wiszniewski, Alan Fryer, Han G. Brunner, Alfred J.L.H. Pinkners, Sylvia E. C. van Beersum, Graeme C. Black	1999	29
13	X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions Clinical Dysmorphology ·Emma M.M. Burkitt Wright, Rahat Perveen, Peter Clayton, Catherine M. Hall, Teresa Costa, Annie Procter, Carol A. Giblin, Dian Donnai, Graeme C. Black	2009	28
14	Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene,TMEM114, expressed in the lens and disrupted by the translocation Human Mutation ·Robyn V. Jamieson, Nicola Farrar, Katrina Stewart, Rahat Perveen, Marija Mihelec, M. J. M. Carette, John Grigg, John W. McAvoy, Frank J. Lovicu, Patrick Tam, Peter Scambler, I. Christopher Lloyd, Dian Donnai, Graeme C. Black	2007	27
15	C-reactive protein and pentraxin-3 binding of factor H-like protein 1 differs from complement factor H: implications for retinal inflammation Scientific Reports ·Maurice Swinkels, Justine Zhang, Viranga Tilakaratna, Graeme C. Black, Rahat Perveen, Selina McHarg, Antonio Inforzato, Anthony J. Day, Simon J. Clark	2018	26
16	A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation Human Molecular Genetics ·Rahat Perveen, Jack Favor, Robyn V. Jamieson, David Ray, Graeme C. Black	2007	21
17	Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26 Proceedings of the National Academy of Sciences ·Selina McHarg, Laura Booth, Rahat Perveen, Isabel Riba Garcia, Nicole Brace, Nadhim Bayatti, Panagiotis I. Sergouniotis, Alexander M. Phillips, Anthony J. Day, Graeme C. Black, Simon J. Clark, Andrew W. Dowsey, Richard D. Unwin, (unknown)	2022	20
18	A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32. PubMed ·Jill Dixon, Amanda J. Gladwin, Stacie K. Loftus, J. Riley, Rahat Perveen, John J. Wasmuth, Rakesh Anand, Michael J. Dixon	1994	19
19	Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy Neurogenetics ·Panagiotis I. Sergouniotis, Rahat Perveen, Dawn L. Thiselton, Κωνσταντίνος Γιαννόπουλος, Marios Sarros, Jennifer R. Davies, Susmito Biswas, Alec M. Ansons, Jane Ashworth, I. Christopher Lloyd, Graeme C. Black, Marcela Votruba	2014	16
20	A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14 Ophthalmology ·Graeme C. Black, Rahat Perveen, Wojtek Wiszniewski, Christopher L Dodd, Dian Donnai, David McLeod	1999	16

About Rahat Perveen

Rahat Perveen is a scholar working on Molecular Biology, Genetics, Radiology, Nuclear Medicine and Imaging, Ophthalmology and Cell Biology, having authored 30 papers that have together received 1.6k indexed citations. Recurring topics across this work include Retinal Development and Disorders (5 papers), Connexins and lens biology (5 papers), Connective tissue disorders research (4 papers), Retinal Diseases and Treatments (4 papers), Ocular Disorders and Treatments (4 papers), melanin and skin pigmentation (3 papers), Glaucoma and retinal disorders (3 papers) and Retinal and Macular Surgery (3 papers). The work is most often cited by research in Ophthalmology (318 citations), Genetics (556 citations), Molecular Biology (850 citations), Cell Biology (175 citations) and Radiology, Nuclear Medicine and Imaging (193 citations). Rahat Perveen has collaborated with scholars based in United Kingdom, United States and Netherlands. Frequent co-authors include Graeme C. Black, I. Christopher Lloyd, Jill Clayton‐Smith, Simon J. Clark, Anthony J. Day, Dian Donnai, Kate Chandler, B. Paul Morgan, Svetlana Hakobyan and Robert B. Sim. Their work appears in journals such as Investigative Ophthalmology & Visual Science, Ophthalmology, Human Molecular Genetics, Human Mutation and Clinical Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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