FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Shomi Bhattacharya

Research Profile

Concepts & Ideas

Disorders

Genes & Molecular Sequences

Physiology

Chemicals & Drugs

Procedures

Co-author Network

Publications

TOP 3
María Ceballos-Chávez; Mario García-Domínguez; Pablo García-Gutiérrez; Sabrina Rivero; Manuel Rodríguez-Paredes; Shomi Bhattacharya; José C Reyes
Control of neuronal differentiation by sumoylation of BRAF35, a subunit of the LSD1-CoREST histone demethylase complex.
N Avrion Mitchison; Shomi Bhattacharya; Edward G D Tuddenham
Human congenital diseases with mixed modes of inheritance have a shortage of recessive disease. A demographic scenario?
Isabelle Audo; Shomi Bhattacharya; Kinga Bujakowska; Wassila Carpentier; Aurore Germain; Marie-Elise Lancelot; Christine Lonjou; Saddek Mohand-Saïd; José-Alain Sahel; Sophie Tronche; Aline Antonio; Christina Zeitz
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Shomi Bhattacharya (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2012: María Ceballos-Chávez; Mario García-Domínguez; Pablo García-Gutiérrez; Sabrina Rivero; Manuel Rodríguez-Paredes; Shomi Bhattacharya; José C Reyes
Control of neuronal differentiation by sumoylation of BRAF35, a subunit of the LSD1-CoREST histone demethylase complex.
Proceedings of the National Academy of Sciences of the United States of America 2012;109(21):8085-90.
2011: N Avrion Mitchison; Shomi Bhattacharya; Edward G D Tuddenham
Human congenital diseases with mixed modes of inheritance have a shortage of recessive disease. A demographic scenario?
Annals of human genetics 2011;75(6):688-93.
2011: Isabelle Audo; Shomi Bhattacharya; Kinga Bujakowska; Wassila Carpentier; Aurore Germain; Marie-Elise Lancelot; Christine Lonjou; Saddek Mohand-Saïd; José-Alain Sahel; Sophie Tronche; Aline Antonio; Christina Zeitz
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
Molecular vision 2011;17():1598-606.
2010: Isabelle Audo; Anne Friedrich; Saddek Mohand-Saïd; Marie-Elise Lancelot; Aline Antonio; Veselina Moskova-Doumanova; Olivier Poch; Shomi Bhattacharya; José-Alain Sahel; Christina Zeitz
An unusual retinal phenotype associated with a novel mutation in RHO.
Archives of ophthalmology 2010;128(8):1036-45.
2010: Jurian Zuercher; John Neidhardt; Istvan Magyar; Stephan Labs; Anthony T Moore; Felix C Tanner; Naushin Waseem; Daniel F Schorderet; Francis L Munier; Shomi Bhattacharya; Wolfgang Berger; Barbara Kloeckener-Gruissem
Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.
Investigative ophthalmology & visual science 2010;51(7):3354-61.
2010: Sheikh Amer Riazuddin; Muhammad Iqbal; Yue Wang; Tomohiro Masuda; Yuhng Chen; Sara Bowne; Lori S Sullivan; Naushin H Waseem; Shomi Bhattacharya; Stephen P Daiger; Kang Zhang; Shaheen N Khan; Sheikh Riazuddin; J Fielding Hejtmancik; Paul Sieving; Donald J Zack; Nicholas Katsanis
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
American journal of human genetics 2010;86(5):805-12.
2010: Isabelle Audo; José-Alain Sahel; Shomi Bhattacharya; Christina Zeitz
[TRPM1, a new gene implicated in congenital stationary night blindness].
Médecine sciences : M/S 2010;26(3):241-4.
2008: Mamatha Gandra; Venkataramana Anandula; Vidhya Authiappan; Srilekha Sundaramurthy; Rajiv Raman; Shomi Bhattacharya; Kumaramanickavel Govindasamy
Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.
Molecular vision 2008;14():1105-13.
2006: Sylvain Hanein; Isabelle Perrault; Sylvie Gerber; Hélène Dollfus; Jean-Louis Dufier; Josué Feingold; Arnold Munnich; Shomi Bhattacharya; Josseline Kaplan; José-Alain Sahel; Jean-Michel Rozet; Thierry Leveillard
Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.
Advances in experimental medicine and biology 2006;572():9-14.
2004: Rosemary Ekong; Steve Jeremiah; David J Judah; Ordan J Lehmann; Farideh Mirzayans; Ying-Chun Hung; Michael A Walter; Shomi Bhattacharya; Timothy W Gant; Sue Povey; Jonathan Wolfe
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray.
Human mutation 2004;24(1):76-85.
2001: Peter J Francis; A C W Ionides; Vanita Berry; Shomi Bhattacharya; Anthony T Moore
Visual outcome in patients with isolated autosomal dominant congenital cataract.
Ophthalmology 2001;108(6):1104-8.
2000: Peter J Francis; Vanita Berry; Shomi Bhattacharya; A Moore
Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0).
The British journal of ophthalmology 2000;84(12):1376-9.
2000: Vanita Berry; Peter J Francis; Sundeep Kaushal; A Moore; Shomi Bhattacharya
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.
Nature genetics 2000;25(1):15-7.
2000: Mary Papaioannou; Louise Ocaka; David A R Bessant; N Lois; A Bird; A Payne; Shomi Bhattacharya
An analysis of ABCR mutations in British patients with recessive retinal dystrophies.
Investigative ophthalmology & visual science 2000;41(1):16-9.
1999: A C W Ionides; Peter J Francis; Vanita Berry; Mackay Donna; Shomi Bhattacharya; Alan Shiels; A Moore
Clinical and genetic heterogeneity in autosomal dominant cataract.
The British journal of ophthalmology 1999;83(7):802-8.
1999: Peter J Francis; Vanita Berry; Anthony T Moore; Shomi Bhattacharya
Lens biology: development and human cataractogenesis.
Trends in genetics : TIG 1999;15(5):191-6.
1999: Mackay Donna; A C W Ionides; Z Kibar; G Rouleau; Vanita Berry; A Moore; Alan Shiels; Shomi Bhattacharya
Connexin46 mutations in autosomal dominant congenital cataract.
American journal of human genetics 1999;64(5):1357-64.
1998: AJ Mears; Tim Jordan; Farideh Mirzayans; Stéphane Dubois; Tsutomu Kume; M Parlee; Robert Ritch; B Koop; W L Kuo; C Collins; J Marshall; Douglas B Gould; W Pearce; Peter Carlsson; S Enerbäck; Jean Morissette; Shomi Bhattacharya; B Hogan; Vincent Raymond; Michael A Walter
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.
American journal of human genetics 1998;63(5):1316-28.
1998: Mary Papaioannou; David A R Bessant; A Payne; James Bellingham; C Rougas; A Loutradis-Anagnostou; Cheryl Y Gregory-Evans; A Balassopoulou; Shomi Bhattacharya
A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.
Journal of medical genetics 1998;35(5):429-31.
1998: Alan Shiels; Mackay Donna; A C W Ionides; Vanita Berry; A Moore; Shomi Bhattacharya
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
American journal of human genetics 1998;62(3):526-32.
1998: A C W Ionides; Vanita Berry; Mackay Donna; Alan Shiels; Shomi Bhattacharya; A Moore
Anterior polar cataract: clinical spectrum and genetic linkage in a single family.
Eye (London, England) 1998;12 ( Pt 2)():224-6.
1997: Tim Jordan; Neil D Ebenezer; R Manners; J McGill; Shomi Bhattacharya
Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly.
American journal of human genetics 1997;61(4):882-8.
1997: Mackay Donna; A C W Ionides; Vanita Berry; A Moore; Shomi Bhattacharya; Alan Shiels
A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.
American journal of human genetics 1997;60(6):1474-8.
1996: M al-Maghtheh; Eranga N Vithana; Emma E Tarttelin; MR Jay; K Evans; T Moore; Shomi Bhattacharya; Chris F Inglehearn
Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.
American journal of human genetics 1996;59(4):864-71.
1996: Emma E Tarttelin; M al-Maghtheh; J Keen; Shomi Bhattacharya; Chris F Inglehearn
Simple tests for rhodopsin involvement in retinitis pigmentosa.
Journal of medical genetics 1996;33(3):262-3.
1996: A C W Ionides; Vanita Berry; T Moore; Shomi Bhattacharya; Alan Shiels
The clinical and genetic heterogeneity of autosomal dominant cataract.
Acta ophthalmologica Scandinavica. Supplement 1996;(219):40-1.
1995: Frank G Holz; K Evans; C Y Gregory; Shomi Bhattacharya; Alan C Bird
Autosomal dominant macular dystrophy simulating North Carolina macular dystrophy.
Archives of ophthalmology 1995;113(2):178-84.
1995: S Kamakari; Dawn L Thiselton; S Lindsay; Alison J Hardcastle; Shomi Bhattacharya
FISH mapping of 22 novel X chromosome cosmids and the isolation of a novel microsatellite on proximal Xp.
Cytogenetics and cell genetics 1995;71(2):151-4.
1994: Chris F Inglehearn; T Jeffrey Keen; M al-Maghtheh; Shomi Bhattacharya
Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic.
American journal of human genetics 1994;55(3):581-2.
1994: K Evans; A Fryer; Chris F Inglehearn; J Duvall-Young; J L Whittaker; C Y Gregory; R Butler; Neil ebenezer; David Hunt; Shomi Bhattacharya
Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.
Nature genetics 1994;6(2):210-3.
1994: T Jeffrey Keen; Chris F Inglehearn; R Kim; Alan C Bird; Shomi Bhattacharya
Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.
Human molecular genetics 1994;3(2):367-8.
1994: J J Wroblewski; J A Wells; A Eckstein; Frederick W Fitzke; C Jubb; T Jeffrey Keen; Chris F Inglehearn; Shomi Bhattacharya; Geoffrey B Arden; MR Jay
Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene.
Ophthalmology 1994;101(1):12-22.
1994: M al-Maghtheh; Chris F Inglehearn; P Lunt; MR Jay; A Bird; Shomi Bhattacharya
Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.
Human mutation 1994;3(4):409-10.
1993: Dawn L Thiselton; S Kamakari; A R Curtis; M P Coleman; Kay E Davies; S Lindsay; Shomi Bhattacharya
Dinucleotide repeat polymorphism at the DXS556 locus.
Human molecular genetics 1993;2(5):613.
1993: J Wells; J Wroblewski; J Keen; Chris F Inglehearn; C Jubb; A Eckstein; MR Jay; Geoffrey B Arden; Shomi Bhattacharya; Frederick W Fitzke
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
Nature genetics 1993;3(3):213-8.
1993: M al-Maghtheh; C Gregory; Chris F Inglehearn; Alison J Hardcastle; Shomi Bhattacharya
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
Human mutation 1993;2(4):249-55.
1992: S Lindsay; Chris F Inglehearn; A Curtis; Shomi Bhattacharya
Molecular genetics of inherited retinal degenerations.
Current opinion in genetics & development 1992;2(3):459-66.
1992: Chris F Inglehearn; T Jeffrey Keen; Rumaisa Bashir; MR Jay; Frederick W Fitzke; Alan C Bird; A Crombie; Shomi Bhattacharya
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.
Human molecular genetics 1992;1(1):41-5.
1991: J Keen; D Lester; Chris F Inglehearn; A Curtis; Shomi Bhattacharya
Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels.
Trends in genetics : TIG 1991;7(1):5.
1990: R Bellamy; Chris F Inglehearn; D Lester; Alison J Hardcastle; Shomi Bhattacharya
Better fingerprinting with PCR.
Trends in genetics : TIG 1990;6(2):32.