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Shomi Bhattacharya

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Marcela Garita-Hernández; Irene González-Guede; Dunja Lukovic; Simone Massalini; M Lourdes Valdés-Sánchez; Francisco Diaz-Corrales; Andrea Diez-Lloret; Slaven Erceg; Shomi S Bhattacharya
Hypoxia increases the yield of photoreceptors differentiating from mouse embryonic stem cells and improves the modeling of retinogenesis in vitro.
Lourdes Valdés-Sánchez; Alan F Wright; Christina F Chakarova; Berta De la Cerda; Francisco J Diaz-Corrales; Simone Massalini; Shomi S Bhattacharya
ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice.
Kunka Kamenarova; RAdka Kaneva; Ivo Kremensky; Vanio Mitev; DeQuincy Prescott; Margarita Romero Durán; Ivailo Tournev; Maria Lourdes Valdés Sánchez; Shomi S Bhattacharya; Sylvia Cherninkova; Christina F Chakarova
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.

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All Publications

2013: Marcela Garita-Hernández; Irene González-Guede; Dunja Lukovic; Simone Massalini; M Lourdes Valdés-Sánchez; Francisco Diaz-Corrales; Andrea Diez-Lloret; Slaven Erceg; Shomi S Bhattacharya
Hypoxia increases the yield of photoreceptors differentiating from mouse embryonic stem cells and improves the modeling of retinogenesis in vitro.
Stem cells (Dayton, Ohio) 2013;31(5):966-78.
2013: Lourdes Valdés-Sánchez; Alan F Wright; Christina F Chakarova; Berta De la Cerda; Francisco J Diaz-Corrales; Simone Massalini; Shomi S Bhattacharya
ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice.
Human molecular genetics 2013;22(8):1507-15.
2013: Kunka Kamenarova; RAdka Kaneva; Ivo Kremensky; Vanio Mitev; DeQuincy Prescott; Margarita Romero Durán; Ivailo Tournev; Maria Lourdes Valdés Sánchez; Shomi S Bhattacharya; Sylvia Cherninkova; Christina F Chakarova
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.
European journal of human genetics : EJHG 2013;21(3):338-42.
2013: Christina Zeitz; Aline Antonio; Claire Audier; Shomi S Bhattacharya; Béatrice Bocquet; Kinga Bujakowska; Hélène Dollfus; Christian P Hamel; Samuel G Jacobson; Susanne Kohl; Marie-Elise Lancelot; Odile Lecompte; Mélanie Letexier; Tien D Luu; Christelle Michiels; Marion Neuillé; Hoan Nguyen; Elise Orhan; Olivier Poch; José-Alain Sahel; Jean-Paul Saraiva; Sharon B Schwartz; Florian Sennlaub; Xavier Zanlonghi; Isabelle Audo
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
American journal of human genetics 2013;92(1):67-75.
2012: Jing Nie; Cindy Tipping; Shomi S Bhattacharya; Simpla Mahato; Wendy Mustill; Andrew C Zelhof
Cross species analysis of Prominin reveals a conserved cellular role in invertebrate and vertebrate photoreceptor cells.
Developmental biology 2012;371(2):312-20.
2012: Anna M Rose; Amna Z Shah; Naushin Waseem; Radwan Ajlan; Giovanna Alfano; Christina F Chakarova; Razek G Coussa; Robert K Koenekoop; Shomi S Bhattacharya
Expression of PRPF31 and TFPT: regulation in health and retinal disease.
Human molecular genetics 2012;21(18):4126-37.
2012: Marni J Falk; Zoe Fonseca-Kelly; Xiaowu Gai; Subhadra Jalali; Chitra Kannabiran; Qin Liu; Mackay Donna; Saddek Mohand-Said; Anthony T Moore; Eiko Nakamaru-Ogiso; Julian Ostrovsky; Lakshmi Palavalli; Juan C Perin; Emily Place; José-Alain Sahel; Rachna Shukla; Magdalena Staniszewska; Naushin Waseem; Andrew R Webster; Rui Xiao; Christina Zeitz; Qi Zhang; Isabelle Audo; Eliot L Berson; Shomi S Bhattacharya; Arundhati Dev Borman; Christina F Chakarova; Mark Consugar; Eric A Pierce
NMNAT1 mutations cause Leber congenital amaurosis.
Nature genetics 2012;44(9):1040-5.
2012: Daekyeong Bae; Shomi S Bhattacharya; Diana Hernandez; Chris Mason; Paul Mondragon-Teran; Ludmila Ruban; Farlan S Veraitch
Hypoxia enhances the generation of retinal progenitor cells from human induced pluripotent and embryonic stem cells.
Stem cells and development 2012;21(8):1344-55.
2012: Slaven Erceg; Dunja Lukovic; Victoria Moreno-Manzano; Miodrag Stojkovic; Shomi S Bhattacharya
Derivation of cerebellar neurons from human pluripotent stem cells.
Current protocols in stem cell biology 2012;Chapter 1():Unit 1H.5.
2012: Giulia Venturini; Shomi S Bhattacharya; Anna M Rose; Amna Z Shah; Carlo Rivolta
CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.
PLoS genetics 2012;8(11):e1003040.
2012: Petra Liskova; Alex G Morris; Stanislava Reinstein Merjava; Tom R Webb; Shomi S Bhattacharya; Panos Deloukas; Neil ebenezer; Martin Filipec; Rhian Gwilliam; Katerina Jirsova; Alison J Hardcastle
High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.
PloS one 2012;7(9):e45495.
2012: Cécilia Maubaret; Anthony G Robson; Christel Thauvin-Robinet; Naushin Waseem; Samuel Bidot; Christina F Chakarova; Michael Cheetham; Maria Kosmaoglou; Sancy Low; Shomi S Bhattacharya
Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.
Molecular vision 2012;18():581-7.
2012: Isabelle Audo; Shomi S Bhattacharya; Kinga M Bujakowska; Aurore Germain; Marie-Elise Lancelot; Mélanie Letexier; Thierry Léveillard; Christelle Michiels; Saddek Mohand-Saïd; José-Alain Sahel; Jean-Paul Saraiva; Aline Antonio; Christina Zeitz
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.
Orphanet journal of rare diseases 2012;7():8.
2012: Pirro G Hysi; Pak C Sham; Claire L Simpson; Andrew R Webster; Shomi S Bhattacharya; Yvonne K Y Fok; Dianne Gerrelli; Christopher J Hammond; Jugnoo S Rahi
Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort.
Investigative ophthalmology & visual science 2012;53(1):440-7.
2011: Vanita Berry; A C W Ionides; Anthony T Moore; Shomi S Bhattacharya
A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.
European journal of human genetics : EJHG 2011;19(12):1289-91.
2011: Anna M Rose; Shomi S Bhattacharya; Rajarshi Mukhopadhyay; Andrew R Webster; Naushin H Waseem
A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa.
Investigative ophthalmology & visual science 2011;52(9):6597-603.
2011: Isabelle Audo; Marie-Elise Lancelot; Saddek Mohand-Saïd; Aline Antonio; Aurore Germain; José-Alain Sahel; Shomi S Bhattacharya; Christina Zeitz
Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.
Human mutation 2011;32(4):E2091-103.
2011: Slaven Erceg; Victoria Moreno-Manzano; Marcela Garita-Hernandez; Miodrag Stojkovic; Shomi S Bhattacharya
Concise review: stem cells for the treatment of cerebellar-related disorders.
Stem cells (Dayton, Ohio) 2011;29(4):564-9.
2011: Christina F Chakarova; Hemant Khanna; Amna Z Shah; Suresh B Patil; Tina Sedmak; Carlos A Murga-Zamalloa; Myrto G Papaioannou; Kerstin Nagel-Wolfrum; Irma Lopez; Peter Munro; Michael Cheetham; Robert K Koenekoop; Rosa M Rios; Karl Matter; Uwe Wolfrum; Anand Swaroop; Shomi S Bhattacharya
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
Human molecular genetics 2011;20(5):975-87.
2011: Mackay Donna; Shomi S Bhattacharya; Arundhati Dev Borman; Mamatha Gandra; Robert H Henderson; Graham E Holder; Zheng Li; Phillip Moradi; Dorothy A Thompson; Naushin Waseem; Andrew R Webster; Genevieve A Wright; Anthony T Moore
RDH12 retinopathy: novel mutations and phenotypic description.
Molecular vision 2011;17():2706-16.
2011: Cécilia G Maubaret; Anthony T Moore; Rajarshi Mukhopadhyay; Veronika Vaclavik; Naushin Waseem; Shomi S Bhattacharya; Amanda Churchill; Graham Holder; Andrew R Webster
Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
Investigative ophthalmology & visual science 2011;52(13):9304-9.
2011: Sancy Low; Shomi S Bhattacharya; Graeme C M Black; Alice Davidson; Paul J Foster; Chris R Hogg; Graham E Holder; Andrew R Webster
Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.
Molecular vision 2011;17():2272-82.
2011: Vanita Berry; Peter J Francis; Quincy Prescott; Naushin H Waseem; Anthony T Moore; Shomi S Bhattacharya
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
Molecular vision 2011;17():1249-53.
2011: John J Graziotto; Michael H Farkas; Kinga Bujakowska; Bertrand M Deramaudt; Qi Zhang; Emeline F Nandrot; Chris F Inglehearn; Shomi S Bhattacharya; Eric A Pierce
Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.
Investigative ophthalmology & visual science 2011;52(1):190-8.
2010: Isabel Barragán; Salud Borrego; Juan Ignacio Pieras; María González-del Pozo; Javier Santoyo; Carmen Ayuso; Montserrat Baiget; José M Millan; Marcela Mena; Mai M Abd El-Aziz; Isabelle Audo; Christina Zeitz; Karin W Littink; Joaquín Dopazo; Shomi S Bhattacharya; Guillermo Antiñolo
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Human mutation 2010;31(11):E1772-800.
2010: Petra Liskova; Pirro G Hysi; Naushin Waseem; Neil D Ebenezer; Shomi S Bhattacharya; Stephen J Tuft
Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers.
Archives of ophthalmology 2010;128(9):1191-5.
2010: James S Friedman; Bo Chang; Daniel S Krauth; Irma Lopez; Naushin H Waseem; Ron E Hurd; Kecia L Feathers; Kari E H Branham; Manessa Shaw; George E Thomas; Matthew J Brooks; Chunqiao Liu; Hirva A Bakeri; Maria M Campos; Cecilia Maubaret; Andrew R Webster; Ignacio R Rodriguez; Debra A Thompson; Shomi S Bhattacharya; Robert K Koenekoop; John R Heckenlively; Anand Swaroop
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(35):15523-8.
2010: Mai M Abd El-Aziz; Ciara A O'Driscoll; Rebecca S Kaye; Isabel Barragan; Mohamed F El-Ashry; Salud Borrego; Guillermo Antiñolo; Chi Pui Pang; Andrew R Webster; Shomi S Bhattacharya
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
Investigative ophthalmology & visual science 2010;51(8):4266-72.
2010: Isabelle Audo; Gaël Manes; Saddek Mohand-Saïd; Anne Friedrich; Marie-Elise Lancelot; Aline Antonio; Veselina Moskova-Doumanova; Oliver Poch; Xavier Zanlonghi; Christian P Hamel; José-Alain Sahel; Shomi S Bhattacharya; Christina Zeitz
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
Investigative ophthalmology & visual science 2010;51(7):3687-700.
2010: Isabelle Audo; José-Alain Sahel; Saddek Mohand-Saïd; Marie-Elise Lancelot; Aline Antonio; Veselina Moskova-Doumanova; Emeline F Nandrot; Jordan Doumanov; Isabel Barragan; Guillermo Antinolo; Shomi S Bhattacharya; Christina Zeitz
EYS is a major gene for rod-cone dystrophies in France.
Human mutation 2010;31(5):E1406-35.
2010: Katherine V Towns; Athina Kipioti; Vernon Long; Martin McKibbin; Cecilia Maubaret; Veronika Vaclavik; Parastoo Ehsani; Kelly Springell; Mohamed Kamal; Raj S Ramesar; David A Mackey; Anthony T Moore; Rajarshi Mukhopadhyay; Andrew R Webster; Graeme C M Black; James O'Sullivan; Shomi S Bhattacharya; Eric A Pierce; Jean D Beggs; Chris F Inglehearn
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
Human mutation 2010;31(5):E1361-76.
2010: Alan F Wright; Christina F Chakarova; Mai M Abd El-Aziz; Shomi S Bhattacharya
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
Nature reviews. Genetics 2010;11(4):273-84.
2010: Mohamed F El-Ashry; Mai M Abd El-Aziz; Osama Shalaby; Shomi S Bhattacharya
Molecular genetic study of Egyptian patients with macular corneal dystrophy.
The British journal of ophthalmology 2010;94(2):250-5.
2010: Isabelle Audo; Kinga Bujakowska; Saddek Mohand-Saïd; Marie-Elise Lancelot; Veselina Moskova-Doumanova; Naushin H Waseem; Aline Antonio; José-Alain Sahel; Shomi S Bhattacharya; Christina Zeitz
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
BMC medical genetics 2010;11():145.
2010: Mackay Donna; Robert H Henderson; Panagiotis I Sergouniotis; Zheng Li; Phillip Moradi; Graham E Holder; Naushin Waseem; Shomi S Bhattacharya; Mohammed Aldahmesh; Fowzan S Alkuraya; Brian Meyer; Andrew R Webster; Anthony T Moore
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
Molecular vision 2010;16():369-77.
2010: Robert H Henderson; Zheng Li; Mai M Abd El Aziz; Mackay Donna; Mohammad A Eljinini; Marwan Zeidan; Anthony T Moore; Shomi S Bhattacharya; Andrew R Webster
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.
Molecular vision 2010;16():46-52.
2009: Kinga Bujakowska; Cécilia Maubaret; Christina F Chakarova; Naoyuki Tanimoto; Susanne C Beck; Edda Fahl; Marian Humphries; Paul F Kenna; Evgeny Makarov; Olga Makarova; François Paquet-Durand; Per A R Ekström; Theo van Veen; Thierry Leveillard; Peter Humphries; Mathias W Seeliger; Shomi S Bhattacharya
Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).
Investigative ophthalmology & visual science 2009;50(12):5927-33.
2009: Isabelle Audo; Susanne Kohl; Bart P Leroy; Francis L Munier; xavier guillonneau; Saddek Mohand-Saïd; Kinga Bujakowska; Emeline F Nandrot; Birgit Lorenz; Markus Preising; Ulrich Kellner; Agnes B Renner; Antje Bernd; Aline Antonio; Veselina Moskova-Doumanova; Marie-Elise Lancelot; Charlotte M Poloschek; Isabelle Drumare; Sabine Defoort-Dhellemmes; Bernd Wissinger; Thierry Léveillard; Christian P Hamel; Daniel F Schorderet; Elfride De Baere; Wolfgang Berger; Samuel G Jacobson; Eberhart Zrenner; José-Alain Sahel; Shomi S Bhattacharya; Christina Zeitz
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
American journal of human genetics 2009;85(5):720-9.
2009: Claudia Schob; Ulrike Orth; Andreas Gal; Stefan Kindler; Christina F Chakarova; Shomi S Bhattacharya; Klaus Rüther
Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
Ophthalmic genetics 2009;30(2):96-8.
2009: Tianxiao Zhang; Rui Hua; Wei Xiao; Kathryn P Burdon; Shomi S Bhattacharya; Jamie E Craig; De-hao Shang; Xiuli Zhao; David A Mackey; Anthony T Moore; Yang Luo; Jinsong Zhang; Xue Zhang
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.
Human mutation 2009;30(5):E603-11.
2009: Martin Müller; Shomi S Bhattacharya; Tony Moore; Quincy Prescott; Tatjana Wedig; Harald Herrmann; Thomas M Magin
Dominant cataract formation in association with a vimentin assembly disrupting mutation.
Human molecular genetics 2009;18(6):1052-7.
2008: Mai M Abd El-Aziz; Isabel Barragan; Ciara A O'Driscoll; Leo Goodstadt; Elena Prigmore; Salud Borrego; Marcela Mena; Juan I Pieras; Mohamed F El-Ashry; Leen Abu Safieh; Amna Shah; Michael Cheetham; Nigel P Carter; Christina F Chakarova; Chris P Ponting; Shomi S Bhattacharya; Guillermo Antinolo
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
Nature genetics 2008;40(11):1285-7.
2008: I Barragán; Mai M Abd El-Aziz; Salud Borrego; Mohamed F El-Ashry; C O'Driscoll; Shomi S Bhattacharya; Guillermo Antiñolo
Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.
Annals of human genetics 2008;72(Pt 4):454-62.
2008: Mai M Abd El-Aziz; Isabel Barragan; C O'Driscoll; Salud Borrego; Leen Abu-Safieh; J I Pieras; Mohamed F El-Ashry; E Prigmore; N Carter; G Antinolo; Shomi S Bhattacharya
Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
Annals of human genetics 2008;72(Pt 4):463-77.
2008: J W B Bainbridge; Alexander J Smith; Susie S Barker; Scott Robbie; Robert Henderson; Kamaljit Balaggan; Ananth Viswanathan; Graham Holder; Andrew Stockman; Nick Tyler; Simon Petersen-Jones; Shomi S Bhattacharya; Adrian J Thrasher; Frederick W Fitzke; Barrie J Carter; Gary Rubin; Anthony T Moore; Robin R Ali
Effect of gene therapy on visual function in Leber's congenital amaurosis.
The New England journal of medicine 2008;358(21):2231-9.
2008: Veronika Vaclavik; Christina F Chakarova; Shomi S Bhattacharya; Anthony G Robson; Graham Holder; Alan C Bird; Andrew R Webster
Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance.
The British journal of ophthalmology 2008;92(2):299-300.
2008: Petra Liskova; B Veraitch; Katerina Jirsova; Martin Filipec; A Neuwirth; Neil D Ebenezer; Pirro G Hysi; Alison J Hardcastle; Stephen J Tuft; Shomi S Bhattacharya
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation.
The British journal of ophthalmology 2008;92(2):265-7.
2008: Susan E Wilkie; Veronika Vaclavik; Huimin Wu; Kinga Bujakowska; Christina F Chakarova; Shomi S Bhattacharya; Martin J Warren; David Hunt
Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.
Molecular vision 2008;14():683-90.
2008: Petra Liskova; Gordon K Klintworth; Brandy L Bowling; Martin Filipec; Katerina Jirsova; Stephen J Tuft; Shomi S Bhattacharya; Alison J Hardcastle; Neil D Ebenezer
Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.
Ophthalmic research 2008;40(2):105-8.
2008: I Barragán; Salud Borrego; Mai M Abd El-Aziz; Mohamed F El-Ashry; L Abu-Safieh; Shomi S Bhattacharya; Guillermo Antiñolo
Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.
Annals of human genetics 2008;72(Pt 1):26-34.
2007: Robert H Henderson; Naushin Waseem; Rowan Searle; Jacqueline van der Spuy; Isabelle Russell-Eggitt; Shomi S Bhattacharya; Dorothy A Thompson; Graham Holder; Michael Cheetham; Andrew R Webster; Anthony T Moore
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
Investigative ophthalmology & visual science 2007;48(12):5684-9.
2007: Petra Liskova; Quincy Prescott; Shomi S Bhattacharya; Stephen J Tuft
British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.
The British journal of ophthalmology 2007;91(12):1717-8.
2007: Christina F Chakarova; Mary Papaioannou; Hemant Khanna; Irma Lopez; Naushin Waseem; Amna Shah; Torsten Theis; James Friedman; Cécilia Maubaret; Kinga Bujakowska; Brotati Veraitch; Mai M Abd El-Aziz; De Quincy Prescott; Sunil K Parapuram; Wendy A Bickmore; Peter M G Munro; Andreas Gal; Christian P Hamel; Valeria Marigo; Chris P Ponting; Bernd Wissinger; Eberhart Zrenner; Karl Matter; Anand Swaroop; Robert K Koenekoop; Shomi S Bhattacharya
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.
American journal of human genetics 2007;81(5):1098-103.
2007: Claire L Simpson; Pirro Hysi; Shomi S Bhattacharya; Chris J Hammond; Andrew Webster; Catherine Peckham; Pak C Sham; Jugnoo S Rahi
The Roles of PAX6 and SOX2 in Myopia: lessons from the 1958 British Birth Cohort.
Investigative ophthalmology & visual science 2007;48(10):4421-5.
2007: Antonella Comitato; Carmine Spampanato; Christina F Chakarova; Daniela Sanges; Shomi S Bhattacharya; Valeria Marigo
Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.
Human molecular genetics 2007;16(14):1699-707.
2007: Petra Liskova; Stephen J Tuft; Rhian Gwilliam; Neil D Ebenezer; Katerina Jirsova; Quincy Prescott; Martincova Radka; Marike Pretorius; Neil Sinclair; David L Boase; Margaret J Jeffrey; Panos Deloukas; Alison J Hardcastle; Martin Filipec; Shomi S Bhattacharya
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
Human mutation 2007;28(6):638.
2007: Vedam Lakshmi Ramprasad; Neil D Ebenezer; Tin Aung; Rama Rajagopal; Victor H K Yong; Stephen J Tuft; Deepa Viswanathan; Mohamed F El-Ashry; Petra Liskova; Donald T H Tan; Shomi S Bhattacharya; Govindasamy Kumaramanickavel; Eranga N Vithana
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.
Human mutation 2007;28(5):522-3.
2007: Mai M Abd El-Aziz; Mohamed F El-Ashry; W M Chan; K L Chong; Isabel Barragan; Guillermo Antiñolo; C P Pang; Shomi S Bhattacharya
A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa.
Annals of human genetics 2007;71(Pt 3):281-94.
2007: Naushin Waseem; Veronika Vaclavik; Andrew Webster; Sharon A Jenkins; Alan C Bird; Shomi S Bhattacharya
Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2007;48(3):1330-4.
2007: Petra Liskova; Pirro G Hysi; Denise Williams; John R Ainsworth; Sunil Shah; Albert de La Chapelle; Stephen J Tuft; Shomi S Bhattacharya
Study of p.N247S KERA mutation in a British family with cornea plana.
Molecular vision 2007;13():1339-47.
2007: Mohamed F El-Ashry; Mai M Abd El-Aziz; Shomi S Bhattacharya
A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).
Journal of glaucoma 2007;16(1):104-11.
2006: James S Friedman; Bo Chang; Chitra Kannabiran; Christina F Chakarova; Hardeep Pal Singh; Subhadra Jalali; Norman L Hawes; Kari E H Branham; Mohammad I Othman; Elena Filippova; Debra A Thompson; Andrew R Webster; Sten Andréasson; Samuel G Jacobson; Shomi S Bhattacharya; John R Heckenlively; Anand Swaroop
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
American journal of human genetics 2006;79(6):1059-70.
2006: Alessandro Iannaccone; David Man; Naushin Waseem; Barbara J Jennings; Madhavi Ganapathiraju; Kevin T Gallaher; Elisheva Reese; Shomi S Bhattacharya; Judith Klein-Seetharaman
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects.
Vision research 2006;46(27):4556-67.
2006: Michel Michaelides; Sharon A Jenkins; Milam A Brantley; Richard M Andrews; Naushin Waseem; Vy Luong; Kevin Gregory-Evans; Shomi S Bhattacharya; Frederick W Fitzke; Andrew R Webster
Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.
Investigative ophthalmology & visual science 2006;47(7):3085-97.
2006: Marion Tschernutter; Sharon A Jenkins; Naushin Waseem; Zubin Saihan; Graham Holder; Alan C Bird; Shomi S Bhattacharya; Robin R Ali; Andrew R Webster
Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.
The British journal of ophthalmology 2006;90(6):718-23.
2006: Susan E Wilkie; Keith J Morris; Shomi S Bhattacharya; Martin J Warren; David Hunt
A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP).
Biochimica et biophysica acta 2006;1762(3):304-11.
2006: Christina F Chakarova; Sylvia Cherninkova; Ivailo Tournev; Naushin Waseem; RAdka Kaneva; Albena Jordanova; Brotati K Veraitch; Bhavdip Gill; Tracy Colclough; Anastasia Nakova; Alexander Oscar; Violeta Mihaylova; Amelia Nikolova-Hill; Alan F Wright; Graeme C M Black; Simon Ramsden; Ivo Kremensky; Shomi S Bhattacharya
Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
Molecular vision 2006;12():909-14.
2006: P K F Addison; Vanita Berry; K R Holden; D Espinal; B Rivera; H Su; A K Srivastava; Shomi S Bhattacharya
A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family.
Molecular vision 2006;12():791-5.
2006: Leen Abu-Safieh; Eranga N Vithana; Irmela Mantel; Graham Holder; Lucia Pelosini; Alan C Bird; Shomi S Bhattacharya
A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.
Molecular vision 2006;12():384-8.
2006: Mai M Abd El-Aziz; Reshma J Patel; Mohamed F El-Ashry; Isabel Barragan; Irene Marcos; Salud Borrego; Guillermo Antiñolo; Shomi S Bhattacharya
Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa.
Ophthalmic research 2006;38(1):19-23.
2005: Mai M Abd El-Aziz; Mohamed F El-Ashry; Isabel Barragan; Irene Marcos; Salud Borrego; Guillermo Antiñolo; Shomi S Bhattacharya
Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
Current eye research 2005;30(12):1081-7.
2005: Rhian Gwilliam; Petra Liskova; Martin Filipec; Stanislav Kmoch; Katerina Jirsova; Elizabeth J Huckle; Catherine L Stables; Shomi S Bhattacharya; Alison J Hardcastle; Panos Deloukas; Neil D Ebenezer
Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.
Investigative ophthalmology & visual science 2005;46(12):4480-4.
2005: Mary Papaioannou; Christina F Chakarova; De Quincy C Prescott; Naushin Waseem; Thorsten Theis; Irma Lopez; Bhavdip Gill; Robert K Koenekoop; Shomi S Bhattacharya
A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.
Human genetics 2005;118(3-4):501-3.
2005: Mohamed F El-Ashry; Mai M Abd El-Aziz; Alison J Hardcastle; Shomi S Bhattacharya; Neil D Ebenezer
A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.
Ophthalmic research 2005;37(6):310-7.
2005: Tin Aung; Tayebeh Rezaie; Koji Okada; Ananth C Viswanathan; Anne Child; Glen Brice; Shomi S Bhattacharya; Ordan J Lehmann; Mansoor Sarfarazi; Roger A Hitchings
Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene.
Investigative ophthalmology & visual science 2005;46(8):2816-22.
2005: P K F Addison; Vanita Berry; A C W Ionides; Peter J Francis; Shomi S Bhattacharya; Anthony T Moore
Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene.
The British journal of ophthalmology 2005;89(2):138-41.
2005: Zhenglin Yang; Bernardo V Alvarez; Christina F Chakarova; Li Jiang; Goutam Karan; Jeanne M Frederick; Yu Zhao; Yves Sauvé; Xi Li; Eberhart Zrenner; Bernd Wissinger; Anneke I Den Hollander; Bradley Katz; Wolfgang Baehr; Frans P M Cremers; Joseph R Casey; Shomi S Bhattacharya; Kang Zhang
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
Human molecular genetics 2005;14(2):255-65.
2005: Mohamed F El-Ashry; Mai M Abd El-Aziz; Osama Shalaby; Simon Wilkins; Subathra Poopalasundaram; Michael Cheetham; Stephen J Tuft; Alison J Hardcastle; Shomi S Bhattacharya; Neil D Ebenezer
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
American journal of ophthalmology 2005;139(1):192-3.
2004: Victoria A Gallon; Susan E Wilkie; Evelyne C Deery; Richard J Newbold; Melanie M Sohocki; Shomi S Bhattacharya; David Hunt; Martin J Warren
Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies.
Biochimica et biophysica acta 2004;1690(2):141-9.
2004: Jill Yardley; Bart P Leroy; Niki Hart-Holden; Bart A Lafaut; Bart Loeys; Ludwine MESSIAEN; Rahat Perveen; M Ashwin Reddy; Shomi S Bhattacharya; Elias Traboulsi; Diana Baralle; Jean-Jacques De Laey; Bernard Puech; Philippe Kestelyn; Anthony T Moore; Forbes D C Manson; Graeme C M Black
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Investigative ophthalmology & visual science 2004;45(10):3683-9.
2004: Vanita Berry; Ziheng Yang; P K F Addison; Peter J Francis; A C W Ionides; G Karan; L Jiang; W Lin; J Hu; R Yang; A Moore; K Zhang; Shomi S Bhattacharya
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).
Journal of medical genetics 2004;41(8):e109.
2004: Sharola Dharmaraj; Bart P Leroy; Melanie M Sohocki; Robert K Koenekoop; Isabelle Perrault; Khalid Anwar; Shagufta Khaliq; R Summathi Devi; David G Birch; Elaine De Pool; Natalio Izquierdo; Lionel Van Maldergem; Muhammad Ismail; Annette M Payne; Graham Holder; Shomi S Bhattacharya; Alan C Bird; Josseline Kaplan; Irene H Maumenee
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
Archives of ophthalmology 2004;122(7):1029-37.
2004: Mohamed F El-Ashry; Mai M Abd El-Aziz; Linda A Ficker; Alison J Hardcastle; Shomi S Bhattacharya; Neil D Ebenezer
BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.
Eye (London, England) 2004;18(7):723-8.
2004: Saima Aijaz; Lynda Erskine; Glen Jeffery; Shomi S Bhattacharya; Marcela Votruba
Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer.
Investigative ophthalmology & visual science 2004;45(6):1667-73.
2004: M Ashwin Reddy; Peter J Francis; Vanita Berry; Shomi S Bhattacharya; Anthony T Moore
Molecular genetic basis of inherited cataract and associated phenotypes.
Survey of ophthalmology 2004;49(3):300-15.
2004: M Ashwin Reddy; Orval A Bateman; Christina F Chakarova; J Ferris; Vanita Berry; E Lomas; R Sarra; M A Smith; Anthony T Moore; Shomi S Bhattacharya; Christine Slingsby
Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract.
Human molecular genetics 2004;13(9):945-53.
2004: David Hunt; Susan E Wilkie; Richard Newbold; Evelyne C Deery; Martin J Warren; Shomi S Bhattacharya; Kang Zhang
Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1.
Novartis Foundation symposium 2004;255():37-49; discussion 49-50, 177-8.
2003: Eranga N Vithana; Leen Abu-Safieh; Lucia Pelosini; Elizabeth Winchester; Dan Hornan; Alan C Bird; David Hunt; Stephen Andrew Bustin; Shomi S Bhattacharya
Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?
Investigative ophthalmology & visual science 2003;44(10):4204-9.
2003: Tin Aung; Neil D Ebenezer; Glen Brice; Anne Child; Quincy Prescott; Ordan J Lehmann; Roger A Hitchings; Shomi S Bhattacharya
Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing.
Journal of medical genetics 2003;40(8):e101.
2003: Ilaria Zito; S M Downes; Reshma J Patel; Michael Cheetham; Neil D Ebenezer; Sharon A Jenkins; Shomi S Bhattacharya; Andrew R Webster; Graham Holder; Alan C Bird; D E Bamiou; Alison J Hardcastle
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.
Journal of medical genetics 2003;40(8):609-15.
2003: Mohamed F El-Ashry; Mai M Abd El-Aziz; Daniel F P Larkin; B Clarke; Ian Cree; Alison J Hardcastle; Shomi S Bhattacharya; Neil D Ebenezer
A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.
The British journal of ophthalmology 2003;87(7):839-42.
2003: Catey Bunce; Roger A Hitchings; Shomi S Bhattacharya; Ordan J Lehmann
Single-nucleotide polymorphisms and glaucoma severity.
American journal of human genetics 2003;72(6):1593-4; author reply 1594-5.
2003: Ordan J Lehmann; Jane C Sowden; Peter Carlsson; Tim Jordan; Shomi S Bhattacharya
Fox's in development and disease.
Trends in genetics : TIG 2003;19(6):339-44.
2003: David A R Bessant; Graham Holder; Frederick W Fitzke; Annette M Payne; Shomi S Bhattacharya; Alan C Bird
Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.
Archives of ophthalmology 2003;121(6):793-802.
2003: Ordan J Lehmann; Stephen J Tuft; Glen Brice; Richard Smith; Asa Blixt; Rachel Bell; Bengt Johansson; Tim Jordan; Roger A Hitchings; Peng Khaw; Simon W M John; Peter Carlsson; Shomi S Bhattacharya
Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function.
Investigative ophthalmology & visual science 2003;44(6):2627-33.
2003: M Ashwin Reddy; Peter J Francis; Vanita Berry; Keith Bradshaw; Reshma J Patel; Eamonn R Maher; R Kumar; Shomi S Bhattacharya; Anthony T Moore
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.
The British journal of ophthalmology 2003;87(2):197-202.
2003: Tin Aung; K Okada; Darmalingum Poinoosawmy; L Membrey; Glen Brice; Anne Child; Shomi S Bhattacharya; Ordan J Lehmann; David F Garway-Heath; Roger A Hitchings
The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms.
The British journal of ophthalmology 2003;87(2):149-52.
2003: Marcela Votruba; Dawn L Thiselton; Shomi S Bhattacharya
Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.
The British journal of ophthalmology 2003;87(1):48-53.
2002: Evelyne C Deery; Eranga N Vithana; Richard J Newbold; Victoria A Gallon; Shomi S Bhattacharya; Martin J Warren; David Hunt; Susan E Wilkie
Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.
Human molecular genetics 2002;11(25):3209-19.
2002: Heidi Stöhr; Nicole Mohr; Susanne Fröhlich; S Qasim Mehdi; Shomi S Bhattacharya; Bernhard H F Weber
Cloning and characterization of WDR17, a novel WD repeat-containing gene on chromosome 4q34.
Biochimica et biophysica acta 2002;1579(1):18-25.
2002: Susan E Wilkie; Inez Stinton; Phillippa Cottrill; Evelyne C Deery; Richard Newbold; Martin J Warren; Shomi S Bhattacharya; David Hunt
Characterisation of two genes for guanylate cyclase activator protein (GCAP1 and GCAP2) in the Japanese pufferfish, Fugu rubripes.
Biochimica et biophysica acta 2002;1577(1):73-80.
2002: Ordan J Lehmann; Neil D Ebenezer; Rosemary Ekong; Louise Ocaka; Andrew Mungall; Scott Fraser; James I McGill; Roger A Hitchings; Peng Khaw; Jane C Sowden; Sue Povey; Michael A Walter; Shomi S Bhattacharya; Tim Jordan
Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.
Investigative ophthalmology & visual science 2002;43(6):1843-9.
2002: Dawn L Thiselton; Christiane Alexander; Jan-Willem Taanman; Simon Brooks; Thomas Rosenberg; Hans Eiberg; sten andreasson; Nicole Van Regemorter; Francis L Munier; Anthony T Moore; Shomi S Bhattacharya; Marcela Votruba
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
Investigative ophthalmology & visual science 2002;43(6):1715-24.
2002: Tin Aung; Louise Ocaka; Neil D Ebenezer; Alex G Morris; Glen Brice; Anne Child; Roger A Hitchings; Ordan J Lehmann; Shomi S Bhattacharya
Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.
Human genetics 2002;110(5):513-4.
2002: T Jeffrey Keen; Matthew M Hims; Arthur B McKie; Anthony T Moore; Rob M Doran; David A Mackey; David C Mansfield; Robert F Mueller; Shomi S Bhattacharya; Alan C Bird; Alexander F Markham; Chris F Inglehearn
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.
European journal of human genetics : EJHG 2002;10(4):245-9.
2002: Dawn L Thiselton; Jennifer McDowall; Oliver Brandau; Juliane Ramser; Fabiana d'Esposito; Shomi S Bhattacharya; Mark T Ross; Alison J Hardcastle; Alfons Meindl
An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.
Genomics 2002;79(4):560-72.
2002: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; Josseline Kaplan; Gerard te Meerman; Rosário Santos; Marianne Schwartz; Guy Van Camp; Claes Wadelius; Bernhard H F Weber; Frans P M Cremers
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
European journal of human genetics : EJHG 2002;10(3):197-203.
2002: Peter J Francis; Vanita Berry; Alison J Hardcastle; Eamonn R Maher; Anthony T Moore; Shomi S Bhattacharya
A locus for isolated cataract on human Xp.
Journal of medical genetics 2002;39(2):105-9.
2002: Mohamed F El-Ashry; Mai M Abd El-Aziz; Simon Wilkins; Michael Cheetham; Susan E Wilkie; Alison J Hardcastle; Stephanie Halford; Ahmed Y Bayoumi; Linda A Ficker; Stephen J Tuft; Shomi S Bhattacharya; Neil D Ebenezer
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.
Investigative ophthalmology & visual science 2002;43(2):377-82.
2002: Tin Aung; Louise Ocaka; Neil D Ebenezer; Alex G Morris; Michael Krawczak; Dawn L Thiselton; Christiane Alexander; Marcela Votruba; Glen Brice; Anne Child; Peter J Francis; Roger A Hitchings; Ordan J Lehmann; Shomi S Bhattacharya
A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.
Human genetics 2002;110(1):52-6.
2002: Christina F Chakarova; Matthew M Hims; Hanno Bolz; Leen Abu-Safieh; Reshma J Patel; Mary Papaioannou; Chris F Inglehearn; T Jeffrey Keen; Catherine Willis; Anthony T Moore; Thomas Rosenberg; Andrew R Webster; Alan C Bird; Andreas Gal; David Hunt; Eranga N Vithana; Shomi S Bhattacharya
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
Human molecular genetics 2002;11(1):87-92.
2001: Ordan J Lehmann; Mohamed F El-Ashry; Neil D Ebenezer; Louise Ocaka; Peter J Francis; Susan E Wilkie; Reshma J Patel; Linda A Ficker; Tim Jordan; Peng Khaw; Shomi S Bhattacharya
A novel keratocan mutation causing autosomal recessive cornea plana.
Investigative ophthalmology & visual science 2001;42(13):3118-22.
2001: Jane C Sowden; James K L Holt; M Meins; Hazel K Smith; Shomi S Bhattacharya
Expression of Drosophila omb-related T-box genes in the developing human and mouse neural retina.
Investigative ophthalmology & visual science 2001;42(13):3095-102.
2001: Dawn L Thiselton; Christiane Alexander; A Morris; S Brooks; Thomas Rosenberg; Hans Eiberg; Birgit Kjer; P Kjer; Shomi S Bhattacharya; Marcela Votruba
A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.
Human genetics 2001;109(5):498-502.
2001: Vanita Berry; Peter J Francis; M Ashwin Reddy; D Collyer; Eranga N Vithana; Ian Mackay; Gary Dawson; Alisoun Carey; A Moore; Shomi S Bhattacharya; R A Quinlan
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.
American journal of human genetics 2001;69(5):1141-5.
2001: Annette M Payne; A G Morris; SM Downes; S Johnson; Alan C Bird; Anthony T Moore; Shomi S Bhattacharya; David Hunt
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.
Journal of medical genetics 2001;38(9):611-4.
2001: Shagufta Khaliq; Abdul Hameed; Muhammad Ismail; Khalid Anwar; B Leroy; Annette M Payne; Shomi S Bhattacharya; S Qasim Mehdi
Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous.
Investigative ophthalmology & visual science 2001;42(10):2225-8.
2001: Susan E Wilkie; Y Li; Evelyne C Deery; Richard J Newbold; D Garibaldi; J B Bateman; H Zhang; W Lin; Donald J Zack; Shomi S Bhattacharya; Martin J Warren; David Hunt; Kang Zhang
Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.
American journal of human genetics 2001;69(3):471-80.
2001: Eranga N Vithana; Leen Abu-Safieh; M J Allen; Alisoun Carey; Mary Papaioannou; Christina F Chakarova; M al-Maghtheh; Neil D Ebenezer; Catherine Willis; Anthony T Moore; Alan C Bird; David Hunt; Shomi S Bhattacharya
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).
Molecular cell 2001;8(2):375-81.
2001: Arthur B McKie; John McHale; T Jeffrey Keen; Emma E Tarttelin; R Goliath; Janneke J C van Lith-Verhoeven; Jacquie Greenberg; Rajkumar Ramesar; Carel B Hoyng; Frans P M Cremers; David A Mackey; Shomi S Bhattacharya; Alan C Bird; Alexander F Markham; Chris F Inglehearn
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
Human molecular genetics 2001;10(15):1555-62.
2001: Abdul Hameed; Shagufta Khaliq; Muhammad Ismail; Khalid Anwar; S Qasim Mehdi; David A R Bessant; Annette M Payne; Shomi S Bhattacharya
A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family.
Investigative ophthalmology & visual science 2001;42(7):1436-8.
2001: David A R Bessant; Robin R Ali; Shomi S Bhattacharya
Molecular genetics and prospects for therapy of the inherited retinal dystrophies.
Current opinion in genetics & development 2001;11(3):307-16.
2001: Bart P Leroy; J A Aragon-Martin; Michael D Weston; David A R Bessant; Catherine Willis; Andrew R Webster; Alan C Bird; William J Kimberling; Annette M Payne; Shomi S Bhattacharya
Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
Experimental eye research 2001;72(5):503-9.
2001: Martin B Reichel; J W B Bainbridge; D Baker; Adrian J Thrasher; Shomi S Bhattacharya; Robin R Ali
An immune response after intraocular administration of an adenoviral vector containing a beta galactosidase reporter gene slows retinal degeneration in the rd mouse.
The British journal of ophthalmology 2001;85(3):341-4.
2001: SM Downes; Graham Holder; Frederick W Fitzke; Annette M Payne; Martin J Warren; Shomi S Bhattacharya; Alan C Bird
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.
Archives of ophthalmology 2001;119(1):96-105.
2001: Richard J Newbold; Evelyne C Deery; C E Walker; Susan E Wilkie; N Srinivasan; David Hunt; Shomi S Bhattacharya; Martin J Warren
The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy.
Human molecular genetics 2001;10(1):47-54.
2000: Susan E Wilkie; Richard J Newbold; Evelyne C Deery; C E Walker; I Stinton; Visvanathan Ramamurthy; James B Hurley; Shomi S Bhattacharya; Martin J Warren; David Hunt
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy.
Human molecular genetics 2000;9(20):3065-73.
2000: A Payne; Eranga N Vithana; Shagufta Khaliq; Abdul Hameed; J Deller; Leen Abu-Safieh; S Kermani; Bart P Leroy; S Qasim Mehdi; Anthony T Moore; Alan C Bird; Shomi S Bhattacharya
RP1 protein truncating mutations predominate at the RP1 adRP locus.
Investigative ophthalmology & visual science 2000;41(13):4069-73.
2000: Shagufta Khaliq; Abdul Hameed; Muhammad Ismail; Khalid Anwar; Bart P Leroy; S Qasim Mehdi; Annette M Payne; Shomi S Bhattacharya
Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.
Investigative ophthalmology & visual science 2000;41(12):3709-12.
2000: Ordan J Lehmann; Neil D Ebenezer; Tim Jordan; M Fox; Louise Ocaka; A Payne; Bart P Leroy; Brian J Clark; Roger A Hitchings; Sue Povey; Peng Khaw; Shomi S Bhattacharya
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma.
American journal of human genetics 2000;67(5):1129-35.
2000: David A R Bessant; Annette M Payne; C Plant; Alan C Bird; Anand Swaroop; Shomi S Bhattacharya
NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.
European journal of human genetics : EJHG 2000;8(10):783-7.
2000: Christiane Alexander; Marcela Votruba; Ulrike E A Pesch; Dawn L Thiselton; S Mayer; A Moore; M Rodriguez; Ulrich Kellner; Beate Leo-Kottler; G Auburger; Shomi S Bhattacharya; Bernd Wissinger
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
Nature genetics 2000;26(2):211-5.
2000: Peter J Francis; J J Chung; M Yasui; Vanita Berry; A Moore; M Keith Wyatt; Graeme Wistow; Shomi S Bhattacharya; Peter Agre
Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.
Human molecular genetics 2000;9(15):2329-34.
2000: Ilaria Zito; A Morris; P Tyson; I Winship; D Sharp; D Gilbert; Dawn L Thiselton; Shomi S Bhattacharya; Alison J Hardcastle
Sequence variation within the RPGR gene: evidence for a founder complex allele.
Human mutation 2000;16(3):273-4.
2000: M Meins; D J Henderson; Shomi S Bhattacharya; Jane C Sowden
Characterization of the human TBX20 gene, a new member of the T-Box gene family closely related to the Drosophila H15 gene.
Genomics 2000;67(3):317-32.
2000: Alison J Hardcastle; Dawn L Thiselton; Ilaria Zito; Neil D Ebenezer; Tammy S Mah; Michael B Gorin; Shomi S Bhattacharya
Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
Investigative ophthalmology & visual science 2000;41(8):2080-6.
2000: Robin R Ali; Gian-Marco Sarra; Clare Stephens; M D Alwis; J W B Bainbridge; Peter M G Munro; S Fauser; Martin B Reichel; Christine Kinnon; David Hunt; Shomi S Bhattacharya; Adrian J Thrasher
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.
Nature genetics 2000;25(3):306-10.
2000: Peter J Francis; Vanita Berry; Shomi S Bhattacharya; Anthony T Moore
The genetics of childhood cataract.
Journal of medical genetics 2000;37(7):481-8.
2000: Melanie M Sohocki; Isabelle Perrault; Bart P Leroy; Annette M Payne; Sharola Dharmaraj; Shomi S Bhattacharya; Josseline Kaplan; Irene H Maumenee; Robert K Koenekoop; Françoise Meire; David G Birch; John R Heckenlively; Stephen P Daiger
Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
Molecular genetics and metabolism 2000;70(2):142-50.
2000: Dawn L Thiselton; Ilaria Zito; C Plant; MR Jay; Shirley V Hodgson; Alan C Bird; Shomi S Bhattacharya; Alison J Hardcastle
Novel frameshift mutations in the RP2 gene and polymorphic variants.
Human mutation 2000;15(6):580.
2000: Ilaria Zito; Michael B Gorin; C Plant; Alan C Bird; Shomi S Bhattacharya; Alison J Hardcastle
Novel mutations of the RPGR gene in RP3 families.
Human mutation 2000;15(4):386.
2000: Marcela Votruba; S Leary; Nick A Losseff; Shomi S Bhattacharya; Anthony T Moore; David H Miller; I F Moseley
MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy.
Neuroradiology 2000;42(3):180-3.
2000: M Francesca Cordeiro; Shomi S Bhattacharya; Gregory Schultz; Peng Khaw
TGF-beta1, -beta2, and -beta3 in vitro: biphasic effects on Tenon's fibroblast contraction, proliferation, and migration.
Investigative ophthalmology & visual science 2000;41(3):756-63.
2000: Abdul Hameed; Shagufta Khaliq; Muhammad Ismail; Khalid Anwar; Neil D Ebenezer; Tim Jordan; S Qasim Mehdi; Annette M Payne; Shomi S Bhattacharya
A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.
Investigative ophthalmology & visual science 2000;41(3):629-33.
2000: Melanie M Sohocki; Sara J Bowne; Lori S Sullivan; Seth Blackshaw; Constance L Cepko; Annette M Payne; Shomi S Bhattacharya; Shagufta Khaliq; S Qasim Mehdi; David G Birch; Wilbur R Harrison; Frederick F Elder; John R Heckenlively; Stephen P Daiger
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
Nature genetics 2000;24(1):79-83.
1999: W Tang; S Bardien; Shomi S Bhattacharya; Stephen M Prescott
Characterization of the human diacylglycerol kinase epsilon gene and its assessment as a candidate for inherited retinitis pigmentosa.
Gene 1999;239(1):185-92.
1999: SM Downes; Frederick W Fitzke; Graham Holder; Annette M Payne; David A R Bessant; Shomi S Bhattacharya; Alan C Bird
Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.
Archives of ophthalmology 1999;117(10):1373-83.
1999: Sara J Bowne; Stephen P Daiger; Matthew M Hims; Melanie M Sohocki; Kimberly A Malone; Arthur B McKie; John R Heckenlively; David G Birch; Chris F Inglehearn; Shomi S Bhattacharya; A Bird; Lori S Sullivan
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
Human molecular genetics 1999;8(11):2121-8.
1999: Annette M Payne; SM Downes; David A R Bessant; C Plant; T Moore; Alan C Bird; Shomi S Bhattacharya
Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies.
Journal of medical genetics 1999;36(9):691-3.
1999: Shagufta Khaliq; Abdul Hameed; Muhammad Ismail; S Qasim Mehdi; David A R Bessant; Annette M Payne; Shomi S Bhattacharya
Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin.
American journal of human genetics 1999;65(2):571-4.
1999: David A R Bessant; Khalid Anwar; Shagufta Khaliq; Abdul Hameed; Muhammad Ismail; Annette M Payne; S Qasim Mehdi; Shomi S Bhattacharya
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.
The British journal of ophthalmology 1999;83(8):919-22.
1999: Vanita Berry; Mackay Donna; Shagufta Khaliq; Peter J Francis; Abdul Hameed; Khalid Anwar; S Qasim Mehdi; Richard J Newbold; A C W Ionides; Alan Shiels; T Moore; Shomi S Bhattacharya
Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin.
Human genetics 1999;105(1-2):168-70.
1999: Ilaria Zito; Dawn L Thiselton; Michael B Gorin; J Timothy Stout; C Plant; Alan C Bird; Shomi S Bhattacharya; Alison J Hardcastle
Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.
Human genetics 1999;105(1-2):57-62.
1999: David A R Bessant; Annette M Payne; kenneth mitton; Q L Wang; Prabodh K Swain; C Plant; Alan C Bird; Donald J Zack; Anand Swaroop; Shomi S Bhattacharya
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.
Nature genetics 1999;21(4):355-6.
1999: David A R Bessant; Shagufta Khaliq; Abdul Hameed; Khalid Anwar; Annette M Payne; S Qasim Mehdi; Shomi S Bhattacharya
Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. Online.
Human mutation 1999;13(1):83.
1999: S Kermani; Kevin Gregory-Evans; Emma E Tarttelin; James Bellingham; C Plant; Alan C Bird; M Fox; Shomi S Bhattacharya; Cheryl Y Gregory-Evans
Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD).
Human genetics 1999;104(1):77-82.
1998: Robin R Ali; Martin B Reichel; AP Byrnes; C J Stephens; Adrian J Thrasher; David Baker; David Hunt; Shomi S Bhattacharya
Co-injection of adenovirus expressing CTLA4-Ig prolongs adenovirally mediated lacZ reporter gene expression in the mouse retina.
Gene therapy 1998;5(11):1561-5.
1998: Marcela Votruba; Anthony T Moore; Shomi S Bhattacharya
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.
Journal of medical genetics 1998;35(10):793-800.
1998: Marcela Votruba; A Payne; Anthony T Moore; Shomi S Bhattacharya
Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY.
Mammalian genome : official journal of the International Mammalian Genome Society 1998;9(10):784-7.
1998: Martin B Reichel; M Francesca Cordeiro; Robert Andrew Alexander; Ian Cree; Shomi S Bhattacharya; Peng Khaw
New model of conjunctival scarring in the mouse eye.
The British journal of ophthalmology 1998;82(9):1072-7.
1998: Robin R Ali; Martin B Reichel; Naheed Kanuga; Peter M G Munro; Robert Andrew Alexander; A R Clarke; Philip J Luthert; Shomi S Bhattacharya; David Hunt
Absence of p53 delays apoptotic photoreceptor cell death in the rds mouse.
Current eye research 1998;17(9):917-23.
1998: Chris F Inglehearn; Emma E Tarttelin; T Jeffrey Keen; Shomi S Bhattacharya; Anthony T Moore; R Taylor; Alan C Bird
A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21.
Journal of medical genetics 1998;35(9):788-9.
1998: David A R Bessant; Annette M Payne; C Plant; Alan C Bird; Shomi S Bhattacharya
Further refinement of the Usher 2A locus at 1q41.
Journal of medical genetics 1998;35(9):773-4.
1998: Martin B Reichel; Robin R Ali; Adrian J Thrasher; David Hunt; Shomi S Bhattacharya; David Baker
Immune responses limit adenovirally mediated gene expression in the adult mouse eye.
Gene therapy 1998;5(8):1038-46.
1998: David A R Bessant; Shagufta Khaliq; Abdul Hameed; Khalid Anwar; S Qasim Mehdi; Annette M Payne; Shomi S Bhattacharya
A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.
American journal of human genetics 1998;62(5):1113-6.
1998: M al-Maghtheh; Eranga N Vithana; Chris F Inglehearn; T Moore; Alan C Bird; Shomi S Bhattacharya
Segregation of a PRKCG mutation in two RP11 families.
American journal of human genetics 1998;62(5):1248-52.
1998: Kevin Gregory-Evans; Shomi S Bhattacharya
Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies.
Trends in genetics : TIG 1998;14(3):103-8.
1998: Marcela Votruba; Frederick W Fitzke; Graham Holder; A Carter; Shomi S Bhattacharya; Anthony T Moore
Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy.
Archives of ophthalmology 1998;116(3):351-8.
1998: M B Reichel; Robin R Ali; F D'Esposito; A R Clarke; P J Luthert; Shomi S Bhattacharya; David Hunt
High frequency of persistent hyperplastic primary vitreous and cataracts in p53-deficient mice.
Cell death and differentiation 1998;5(2):156-62.
1998: Eranga N Vithana; M al-Maghtheh; Shomi S Bhattacharya; Chris F Inglehearn
RP11 is the second most common locus for dominant retinitis pigmentosa.
Journal of medical genetics 1998;35(2):174-5.
1998: Annette M Payne; SM Downes; David A R Bessant; R Taylor; Graham Holder; Martin J Warren; Alan C Bird; Shomi S Bhattacharya
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
Human molecular genetics 1998;7(2):273-7.
1998: Graham Holder; Marcela Votruba; A C Carter; Shomi S Bhattacharya; Frederick W Fitzke; Anthony T Moore
Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter.
Documenta ophthalmologica. Advances in ophthalmology 1998;95(3-4):217-28.
1998: Marcela Votruba; Anthony T Moore; Shomi S Bhattacharya
Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees.
Human genetics 1998;102(1):79-86.
1998: Chris F Inglehearn; Emma E Tarttelin; C Plant; R E Peacock; M al-Maghtheh; Eranga N Vithana; Alan C Bird; Shomi S Bhattacharya
A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.
Journal of medical genetics 1998;35(1):1-5.
1998: Robin R Ali; Martin B Reichel; Mahesh De Alwis; Naheed Kanuga; Christine Kinnon; Roland J Levinsky; David Hunt; Shomi S Bhattacharya; Adrian J Thrasher
Adeno-associated virus gene transfer to mouse retina.
Human gene therapy 1998;9(1):81-6.
1998: Annette M Payne; SM Downes; David A R Bessant; Alan C Bird; Shomi S Bhattacharya
Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.
American journal of human genetics 1998;62(1):192-5.
1997: Alison J Hardcastle; Z K David-Gray; MR Jay; Alan C Bird; Shomi S Bhattacharya
Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.
Investigative ophthalmology & visual science 1997;38(13):2750-5.
1997: Carol L Freund-Taylor; Cheryl Y Gregory-Evans; T Furukawa; Mary Papaioannou; J Looser; LA Ploder; James Bellingham; D Ng; Jo-Anne Herbrick; A Duncan; Stephen W Scherer; Lap-Chee Tsui; A Loutradis-Anagnostou; Samuel G Jacobson; C L Cepko; Shomi S Bhattacharya; Roderick R McInnes
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
Cell 1997;91(4):543-53.
1997: Robin R Ali; Martin B Reichel; David Hunt; Shomi S Bhattacharya
Gene therapy for inherited retinal degeneration.
The British journal of ophthalmology 1997;81(9):795-801.
1997: Nick Occleston; Julie T Daniels; Roy W Tarnuzzer; K K Sethi; Robert Andrew Alexander; Shomi S Bhattacharya; Gregory Schultz; Peng Khaw
Single exposures to antiproliferatives: long-term effects on ocular fibroblast wound-healing behavior.
Investigative ophthalmology & visual science 1997;38(10):1998-2007.
1997: Alison J Hardcastle; Dawn L Thiselton; M Nayudu; R M Hampson; Shomi S Bhattacharya
Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2.
Investigative ophthalmology & visual science 1997;38(9):1893-6.
1997: M Francesca Cordeiro; Peter H Constable; Robert Andrew Alexander; Shomi S Bhattacharya; Peng Khaw
Effect of varying the mitomycin-C treatment area in glaucoma filtration surgery in the rabbit.
Investigative ophthalmology & visual science 1997;38(8):1639-46.
1997: Marcela Votruba; Anthony T Moore; Shomi S Bhattacharya
Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.
Journal of medical genetics 1997;34(2):117-21.
1997: A C W Ionides; Vanita Berry; Mackay Donna; Anthony T Moore; Shomi S Bhattacharya; Alan Shiels
A locus for autosomal dominant posterior polar cataract on chromosome 1p.
Human molecular genetics 1997;6(1):47-51.
1996: Dawn L Thiselton; R M Hampson; M Nayudu; L Van Maldergem; M L Wolf; B K Saha; Shomi S Bhattacharya; Alison J Hardcastle
Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping.
Genome research 1996;6(11):1093-102.
1996: C Y Gregory; K Evans; S D Wijesuriya; S Kermani; M R Jay; C Plant; N Cox; Alan C Bird; Shomi S Bhattacharya
The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16.
Human molecular genetics 1996;5(7):1055-9.
1996: Emma E Tarttelin; C Plant; Jean Weissenbach; Alan C Bird; Shomi S Bhattacharya; Chris F Inglehearn
A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.
Journal of medical genetics 1996;33(6):518-20.
1996: Robin R Ali; Martin B Reichel; Adrian J Thrasher; Roland J Levinsky; Christine Kinnon; Naheed Kanuga; David Hunt; Shomi S Bhattacharya
Gene transfer into the mouse retina mediated by an adeno-associated viral vector.
Human molecular genetics 1996;5(5):591-4.
1996: Vanita Berry; A C W Ionides; Anthony T Moore; C Plant; Shomi S Bhattacharya; Alan Shiels
A locus for autosomal dominant anterior polar cataract on chromosome 17p.
Human molecular genetics 1996;5(3):415-9.
1996: S D Wijesuriya; K Evans; M R Jay; C Davison; Bernhard H F Weber; Alan C Bird; Shomi S Bhattacharya; C Y Gregory
Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes.
Genome research 1996;6(2):92-101.
1995: N M Toma; Neil ebenezer; Chris F Inglehearn; C Plant; L A Ficker; Shomi S Bhattacharya
Linkage of congenital hereditary endothelial dystrophy to chromosome 20.
Human molecular genetics 1995;4(12):2395-8.
1995: R J Patel; T Jeffrey Keen; K H Grzeschik; W C Nierman; P Hayes; Shomi S Bhattacharya; Chris F Inglehearn
Regional assignment of 30 expressed sequence tags on human chromosome 7 using a somatic cell hybrid panel.
Genomics 1995;30(1):112-4.
1995: T Jeffrey Keen; Chris F Inglehearn; Eric Green; A F Cunningham; R J Patel; R E Peacock; S Gerken; R White; Jean Weissenbach; Shomi S Bhattacharya
A YAC contig spanning the dominant retinitis pigmentosa locus (RP9) on chromosome 7p.
Genomics 1995;28(3):383-8.
1995: R Y Kim; H Dollfus; T Jeffrey Keen; Frederick W Fitzke; Geoffrey B Arden; Shomi S Bhattacharya; Alan C Bird
Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.
Archives of ophthalmology 1995;113(4):451-5.
1995: C Y Gregory; S Wijesuriya; K Evans; MR Jay; Alan C Bird; Shomi S Bhattacharya
Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.
Journal of medical genetics 1995;32(3):240-1.
1995: C Y Gregory; K Evans; Shomi S Bhattacharya
Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval.
Journal of medical genetics 1995;32(3):224-6.
1995: K Evans; J Duvall-Young; Frederick W Fitzke; Geoffrey B Arden; Shomi S Bhattacharya; Alan C Bird
Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype.
Archives of ophthalmology 1995;113(2):195-201.
1995: T Jeffrey Keen; Chris F Inglehearn; R J Patel; Eric Green; D C Peluso; Shomi S Bhattacharya
Localization of the aquaporin 1 (AQP1) gene within a YAC contig containing the polymorphic markers D7S632 and D7S526.
Genomics 1995;25(2):599-600.
1995: R Y Kim; Frederick W Fitzke; Anthony T Moore; MR Jay; Chris F Inglehearn; Geoffrey B Arden; Shomi S Bhattacharya; Alan C Bird
Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.
The British journal of ophthalmology 1995;79(1):23-7.
1995: Dawn L Thiselton; S Lindsay; S Kamakari; Alison J Hardcastle; P Roustan; Shomi S Bhattacharya
Genetic and physical mapping of five novel microsatellite markers on human Xp21.1-p11.22.
Genomics 1995;25(1):279-81.
1995: K Evans; C Y Gregory; A Fryer; J Whittaker; J Duvall-Young; Alan C Bird; M R Jay; Shomi S Bhattacharya
The role of molecular genetics in the prenatal diagnosis of retinal dystrophies.
Eye (London, England) 1995;9 ( Pt 1)():24-8.
1994: C Y Gregory; K Evans; J L Whittaker; A Fryer; J Weissenbach; Shomi S Bhattacharya
Refinement of the cone-rod retinal dystrophy locus on chromosome 19q.
American journal of human genetics 1994;55(5):1061-3.
1994: J J Wroblewski; J A Wells; A Eckstein; Frederick W Fitzke; C Jubb; T Jeffrey Keen; Chris F Inglehearn; Shomi S Bhattacharya; Geoffrey B Arden; M R Jay
Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa.
The British journal of ophthalmology 1994;78(11):831-6.
1994: Sarah L Owens; Frederick W Fitzke; Chris F Inglehearn; MR Jay; T Jeffrey Keen; Geoffrey B Arden; Shomi S Bhattacharya; Alan C Bird
Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.
The British journal of ophthalmology 1994;78(5):353-8.
1994: Chris F Inglehearn; T Jeffrey Keen; M al-Maghtheh; C Y Gregory; M R Jay; Anthony T Moore; Alan C Bird; Shomi S Bhattacharya
Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).
American journal of human genetics 1994;54(4):675-80.
1994: M al-Maghtheh; Chris F Inglehearn; T Jeffrey Keen; K Evans; Anthony T Moore; MR Jay; Alan C Bird; Shomi S Bhattacharya
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.
Human molecular genetics 1994;3(2):351-4.
1994: David R Sargan; P J Clements; A Sohal; C Y Gregory; Shomi S Bhattacharya; Simon M Petersen-Jones
Progressive retinal atrophy: a model for retinitis pigmentosa in companion animals.
Gene therapy 1994;1 Suppl 1():S89.
1994: M al-Maghtheh; R Y Kim; Alison J Hardcastle; Chris F Inglehearn; Shomi S Bhattacharya
A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.
Human molecular genetics 1994;3(1):205-6.
1994: A R Curtis; S Lindsay; E Boye; A J Clarke; S J Landy; Shomi S Bhattacharya
A study of X chromosome activity in two incontinentia pigmenti families with probable linkage to Xq28.
European journal of human genetics : EJHG 1994;2(1):51-8.
1993: R Y Kim; M al-Maghtheh; Frederick W Fitzke; Geoffrey B Arden; MR Jay; Shomi S Bhattacharya; Alan C Bird
Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.
Archives of ophthalmology 1993;111(11):1518-24.
1993: P J Clements; C Y Gregory; S M Peterson-Jones; David R Sargan; Shomi S Bhattacharya
Confirmation of the rod cGMP phosphodiesterase beta subunit (PDE beta) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test.
Current eye research 1993;12(9):861-6.
1993: Anthony T Moore; Frederick W Fitzke; MR Jay; Geoffrey B Arden; Chris F Inglehearn; T Jeffrey Keen; Shomi S Bhattacharya; Alan C Bird
Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.
The British journal of ophthalmology 1993;77(8):473-9.
1993: S Lindsay; A R Curtis; P Roustan; S Kamakari; Dawn L Thiselton; A Stephenson; Shomi S Bhattacharya
Isolation and characterization of three microsatellite markers in the proximal long arm of the human X chromosome.
Genomics 1993;17(1):208-10.
1993: K M Bushby; D Gardner-Medwin; L V Nicholson; M A Johnson; I D Haggerty; N J Cleghorn; J B Harris; Shomi S Bhattacharya
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities.
Journal of neurology 1993;240(2):105-12.
1993: A Curtis; R J Richardson; J Boohene; A Jackson; R Nelson; Shomi S Bhattacharya
Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.
Journal of medical genetics 1993;30(2):164-6.
1993: P Roustan; A R Curtis; S Kamakari; Dawn L Thiselton; S Lindsay; Shomi S Bhattacharya
Dinucleotide repeat polymorphism at the DXS573 locus.
Human molecular genetics 1993;2(1):92.
1992: P Roustan; A R Curtis; S Kamakari; Dawn L Thiselton; S Lindsay; Shomi S Bhattacharya
Dinucleotide repeat polymorphism at the DXS559 locus.
Human molecular genetics 1992;1(9):778.
1992: A R Curtis; P Roustan; S Kamakari; Dawn L Thiselton; S Lindsay; Shomi S Bhattacharya
Two dinucleotide repeat polymorphisms at the DXS571 locus.
Human molecular genetics 1992;1(9):776.
1992: M E M Porteous; A Curtis; S Lindsay; O Williams; D Goudie; S Kamakari; Shomi S Bhattacharya
The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13).
Genomics 1992;14(2):298-301.
1992: Anthony T Moore; Frederick W Fitzke; C M Kemp; Geoffrey B Arden; T Jeffrey Keen; Chris F Inglehearn; Shomi S Bhattacharya; A C Bird
Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.
The British journal of ophthalmology 1992;76(8):465-9.
1992: S Lindsay; Dawn L Thiselton; J B Bateman; J T Ngo; RS Sparkes; M Coleman; Kay E Davies; Shomi S Bhattacharya
Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp.
Human genetics 1992;88(3):349-50.
1991: K M Bushby; N J Cleghorn; A Curtis; I D Haggerty; L V Nicholson; M A Johnson; J B Harris; Shomi S Bhattacharya
Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy.
Human genetics 1991;88(2):195-9.
1991: T Jeffrey Keen; Chris F Inglehearn; D H Lester; Rumaisa Bashir; MR Jay; Alan C Bird; B Jay; Shomi S Bhattacharya
Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site.
Genomics 1991;11(1):199-205.
1991: R J Bellamy; C F Inglehearn; I K Jalili; A J Jeffreys; Shomi S Bhattacharya
Increased band sharing in DNA fingerprints of an inbred human population.
Human genetics 1991;87(3):341-7.
1991: I D Haggerty; J Keen; A Curtis; Shomi S Bhattacharya
A new Xmnl polymorphism for the DMD probe PERT 87-8.
Nucleic acids research 1991;19(3):680.
1991: A Curtis; R Nelson; M E M Porteous; John Burn; Shomi S Bhattacharya
Association of less common cystic fibrosis mutations with a mild phenotype.
Journal of medical genetics 1991;28(1):34-7.
1991: Chris F Inglehearn; Rumaisa Bashir; D H Lester; MR Jay; Alan C Bird; Shomi S Bhattacharya
A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.
American journal of human genetics 1991;48(1):26-30.
1990: D H Lester; Chris F Inglehearn; Rumaisa Bashir; H Ackford; L Esakowitz; MR Jay; Alan C Bird; A F Wright; Surinder S Papiha; Shomi S Bhattacharya
Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.
American journal of human genetics 1990;47(3):536-41.
1990: Chris F Inglehearn; MR Jay; D H Lester; Rumaisa Bashir; B Jay; Alan C Bird; A F Wright; H J Evans; Surinder S Papiha; Shomi S Bhattacharya
No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity.
Genomics 1990;6(1):168-73.
1990: Chris F Inglehearn; Surinder S Papiha; MR Jay; A F Wright; A T Moore; Shomi S Bhattacharya
Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus.
Journal of medical genetics 1990;27(1):14-6.
1989: Surinder S Papiha; D F Roberts; A Clarke; John Burn; D Gardner-Medwin; Shomi S Bhattacharya
Population frequencies of three DNA alleles linked to the Duchenne muscular dystrophy gene.
Journal of medical genetics 1989;26(6):390-2.
1989: S Lindsay; MR Jay; D J Bower; G Adam; Chris F Inglehearn; P G Sealey; Surinder S Papiha; Shomi S Bhattacharya
X-linked retinitis pigmentosa: a molecular genetic approach to isolating the defective genes.
Progress in clinical and biological research 1989;314():83-97.