Author

Reshma J. Patel

Observed names: PATEL, RJ, Patel, RJ, R J Patel, R Patel, RESHMA J. PATEL, RJ Patel, Reshma J Patel, Reshma Patel

Observed institutions: University of Southern California, University of London, Centre National de la Recherche Scientifique, National Institutes of Health, Children's Hospital of Los Angeles, University of Utah, University of Cambridge, Centre National de Recherche en Génomique Humaine, National Human Genome Research Institute, Genethon (France), University College London

OpenAlex ID: A5073198073

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

2003 · I Zito, S M Downes, et al. · Journal of Medical Genetics · 144

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Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31

1999 · Binoy Appukuttan, Elizabeth Gillanders, et al. · The American Journal of Human Genetics · 120

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)☆

2003 · Samantha Johnson, Stephanie Halford, et al. · Genomics · 104

Efficient and sustained transgene expression in human corneal cells mediated by a lentiviral vector

2000 · X Wang, B Appukuttan, et al. · Gene Therapy · 93

A novel keratocan mutation causing autosomal recessive cornea plana.

2001 · O J Lehmann, M F El-ashry, et al. · PubMed · 62

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

2002 · Alessandra Maugeri, Kris Flothmann, et al. · European Journal of Human Genetics · 50

Sequence and Evolution of the Blue Cone Pigment Gene in Old and New World Primates

1995 · David M. Hunt, Jill A. Cowing, et al. · Genomics · 41

Mutations in theCACNA1F andNYX genes in British CSNBX families

2003 · Ilaria Zito, Louise E. Allen, et al. · Human Mutation · 37

A YAC Contig Spanning the Dominant Retinitis Pigmentosa Locus (RP9) on Chromosome 7p

1995 · T.Jeffrey Keen, Chris F. Inglehearn, et al. · Genomics · 17

A novel mutation in the Norrie disease gene

2000 · Sandra Ott, Reshma J. Patel, et al. · Journal of American Association for Pediatric Ophthalmology and Strabismus · 14

DNA-based diagnosis of the von Hippel–Lindau syndrome

2000 · Reshma J Patel, Binoy Appukuttan, et al. · American Journal of Ophthalmology · 13

Exclusion of Four Candidate Genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as Causative of Autosomal Recessive Retinitis Pigmentosa

2005 · Mai M. Abd El-Aziz, Reshma J. Patel, et al. · Ophthalmic Research · 9

Clinical Phenotype Associated With the Arg141His Mutation in the X-linked Retinoschisis Gene

2000 · Jeong-Hee C. Park, Sandra H. Ott, et al. · Archives of Ophthalmology · 9

Localization of the aquaporin 1 (AQP1) gene within a YAC contig containing the polymorphic markers D7S632 and D7S526

1995 · T.Jeffrey Keen, Chris F. Inglehearn, et al. · Genomics · 6

Isolation and characterization of the human homeobox gene HOX D1

2000 · Binoy Appukuttan, Raman Sood, et al. · Molecular Biology Reports · 4

Regional Assignment of 30 Expressed Sequence Tags on Human Chromosome 7 Using a Somatic Cell Hybrid Panel

1995 · RESHMA J. PATEL, JEFFREY T. KEEN, et al. · Genomics · 4

Evidence for a new X-linked syndrome involving retinitis pigmentosa

2001 · Zito, I, Downes, SM, et al. · UCL Discovery (University College London) · 3

Acknowledgements to Referees

2005 · Hideaki Hara, Upendra K. Kar, et al. · Ophthalmic Research

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A Potential Pathogenic Change in Keratocan Causes Autosomal Recessive Cornea Plana (CNA2)

2002 · ND Ebenezer, Chandni Patel, et al. · UCL Discovery (University College London)

Candidate gene analysis in the RP23 genomic interval

2001 · Patel, RJ, Zito, I, et al. · UCL Discovery (University College London)

Physical and transcriptional mapping studies within the retinitis pigmentosa critical region on chromosome 7p

1998 · Reshma Patel · UCL Discovery (University College London)

Towards identifying the genes for RP with incomplete penetrance.

1996 · CF Inglehearn, Mai Al-Maghtheh, et al. · UCL Discovery (University College London)

Regional Assignment of 30 Expressed Sequence Tags (ests) on Human-chromosome-7 Using a Somatic-cell Hybrid Panel

1995 · PATEL, RJ, KEEN, TJ, et al. · UCL Discovery (University College London)

Progress Towards the Identification of the Rp9 Autosomal-dominant Retinitis-pigmentosa Gene

1995 · KEEN, TJ, PATEL, RJ, et al. · UCL Discovery (University College London)

Genetic Refinement and a Yac Contig Across the Chromosome-7p Autosomal-dominant Retinitis-pigmentosa Locus (rp9) and an Estimation of the Frequency of This and Other Forms of Dominant Rp in the Uk

1995 · CF Inglehearn, T J Keen, et al. · UCL Discovery (University College London)

Works count: 30

Citation count: 730

H-index: 11

I10-index: 11