Works by Bhattacharya, Shomi S

Results: 78

Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of 'Linked Trans-Acting Epistasis'.

Published in:

Annals of Human Genetics, 2014, v. 78, n. 1, p. 62, doi. 10.1111/ahg.12042

By:

Rose, Anna M.;
Shah, Amna Z.;
Venturini, Giulia;
Rivolta, Carlo;
Rose, Geoffrey E.;
Bhattacharya, Shomi S.

Publication type:

Article

Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.

Published in:

Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00688

By:

Knöpfel, Emilia Boiadjieva;
Vilches, Clara;
Camargo, Simone M. R.;
Errasti-Murugarren, Ekaitz;
Stäubli, Andrina;
Mayayo, Clara;
Munier, Francis L.;
Miroshnikova, Nataliya;
Poncet, Nadège;
Junza, Alexandra;
Bhattacharya, Shomi S.;
Prat, Esther;
Berry, Vanita;
Berger, Wolfgang;
Heon, Elise;
Moore, Anthony T.;
Yanes, Óscar;
Nunes, Virginia;
Palacín, Manuel;
Verrey, Francois

Publication type:

Article

A new locus ( RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 501, doi. 10.1007/s00439-005-0063-3

By:

Papaioannou, Myrto;
Chakarova, Christina F.;
Prescott, De Quincy C.;
Waseem, Naushin;
Theis, Thorsten;
Lopez, Irma;
Gill, Bhavdip;
Koenekoop, Robert K.;
Bhattacharya, Shomi S.

Publication type:

Article

Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 513, doi. 10.1007/s00439-002-0711-9

By:

Aung, Tin;
Ocaka, Louise;
Ebenezer, Neil D.;
Morris, Alex G.;
Brice, Glen;
Child, Anne H.;
Hitchings, Roger A.;
Lehmann, Ordan J.;
Bhattacharya, Shomi S.

Publication type:

Article

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 52, doi. 10.1007/s00439-001-0645-7

By:

Aung, Tin;
Ocaka, Louise;
Ebenezer, Neil D.;
Morris, Alex G.;
Krawczak, Michael;
Thiselton, Dawn L.;
Alexander, Christiane;
Votruba, Marcela;
Brice, Glen;
Child, Anne H.;
Francis, Peter J.;
Hitchings, Roger A.;
Lehmann, Ordan J.;
Bhattacharya, Shomi S.

Publication type:

Article

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.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 498, doi. 10.1007/s004390100600

By:

Thiselton, Dawn L.;
Alexander, Christiane;
Morris, Alex;
Brooks, Simon;
Rosenberg, Thomas;
Eiberg, Hans;
Kjer, Birgit;
Kjer, Poul;
Bhattacharya, Shomi S.;
Votruba, Marcela

Publication type:

Article

Non-coding RNAs in pluripotency and neural differentiation of human pluripotent stem cells.

Published in:

Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00132

By:

Lukovic, Dunja;
Moreno-Manzano, Victoria;
Klabusay, Martin;
Stojkovic, Miodrag;
Bhattacharya, Shomi S.;
Erceg, Slaven

Publication type:

Article

EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones.

Published in:

PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0166397

By:

Alfano, Giovanna;
Kruczek, Przemyslaw M.;
Shah, Amna Z.;
Kramarz, Barbara;
Jeffery, Glen;
Zelhof, Andrew C.;
Bhattacharya, Shomi S.

Publication type:

Article

TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene.

Published in:

PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0148678

By:

Czub, Barbara;
Shah, Amna Z.;
Alfano, Giovanna;
Kruczek, Przemysław M.;
Chakarova, Christina F.;
Bhattacharya, Shomi S.

Publication type:

Article

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Published in:

Nature Genetics, 2008, v. 40, n. 11, p. 1285, doi. 10.1038/ng.241

By:

Abd El-Aziz, Mai M;
Barragan, Isabel;
O'Driscoll, Ciara A;
Goodstadt, Leo;
Prigmore, Elena;
Borrego, Salud;
Mena, Marcela;
Pieras, Juan I;
El-Ashry, Mohamed F;
Safieh, Leen Abu;
Shah, Amna;
Cheetham, Michael E;
Carter, Nigel P;
Chakarova, Christina;
Ponting, Chris P;
Bhattacharya, Shomi S;
Antinolo, Guillermo

Publication type:

Article

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Published in:

Nature Genetics, 2000, v. 26, n. 2, p. 211, doi. 10.1038/79944

By:

Alexander, Christiane;
Votruba, Marcela;
Pesch, Ulrike E.A.;
Thiselton, Dawn L.;
Mayer, Simone;
Moore, Anthony;
Rodriguez, Miguel;
Kellner, Ulrich;
Leo-Kottler, Beate;
Auburger, Georg;
Bhattacharya, Shomi S.;
Wissinger, Bernd

Publication type:

Article

Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.

Published in:

Nature Genetics, 2000, v. 25, n. 3, p. 306, doi. 10.1038/77068

By:

Ali, Robin R.;
Sarra, Gian-Marco;
Stephens, Clare;
Alwis, Mahesh de;
Bainbridge, James W.B.;
Munro, Peter M.;
Fauser, Sascha;
Reichel, Martin B.;
Kinnon, Christine;
Hunt, David M.;
Bhattacharya, Shomi S.;
Thrasher, Adrian J.

Publication type:

Article

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

Published in:

Nature Genetics, 2000, v. 24, n. 1, p. 79, doi. 10.1038/71732

By:

Sohocki, Melanie M.;
Bowne, Sara J.;
Sullivan, Lori S.;
Blackshaw, Seth;
Cepko, Constance L.;
Payne, Annette M.;
Bhattacharya, Shomi S.;
Khaliq, Shagufta;
Qasim Mehdi, S.;
Birch, David G.;
Harrison, Wilbur R.;
Elder, Frederick F.B.;
Heckenlively, John R.;
Daiger, Stephen P.

Publication type:

Article

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

Published in:

Nature Genetics, 1999, v. 23, n. 2, p. 217, doi. 10.1038/13848

By:

den Hollander, Anneke I.;
ten Brink, Jacoline B.;
de Kok, Yvette J.M.;
van Soest, Simone;
van den Born, L. Ingeborgh;
van Driel, Marc A.;
van de Pol, Dorien J.R.;
Payne, Annette M.;
Bhattacharya, Shomi S.;
Kellner, Ulrich;
Hoyng, Carel B.;
Westerveld, Andries;
Brunner, Han G.;
Bleeker-Wagemakers, Elisabeth M.;
Deutman, August F.;
Heckenlively, John R.;
Cremers, Frans P.M.;
Bergen, Arthur A.B.

Publication type:

Article

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 355, doi. 10.1038/7678

By:

Bessant, David A.R.;
Payne, Annette M.;
Mitton, Kenneth P.;
Wang, Qing-Liang;
Swain, Prabodha K.;
Plant, Catherine;
Bird, Alan C.;
Zack, Donald J.;
Swaroop, Anand;
Bhattacharya, Shomi S.

Publication type:

Article

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.

Published in:

BMC Medical Genetics, 2010, v. 11, p. 145, doi. 10.1186/1471-2350-11-145

By:

Audo, Isabelle;
Bujakowska, Kinga;
Mohand-Saïd, Saddek;
Lancelot, Marie-Elise;
Moskova-Doumanova, Veselina;
Waseem, Naushin H.;
Antonio, Aline;
Sahel, José-Alain;
Bhattacharya, Shomi S.;
Zeitz, Christina

Publication type:

Article

CRB1 mutations in inherited retinal dystrophies.

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 306, doi. 10.1002/humu.21653

By:

Bujakowska, Kinga;
Audo, Isabelle;
Mohand-Saïd, Saddek;
Lancelot, Marie-Elise;
Antonio, Aline;
Germain, Aurore;
Léveillard, Thierry;
Letexier, Mélanie;
Saraiva, Jean-Paul;
Lonjou, Christine;
Carpentier, Wassila;
Sahel, José-Alain;
Bhattacharya, Shomi S.;
Zeitz, Christina

Publication type:

Article

RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 73, doi. 10.1002/humu.21640

By:

Audo, Isabelle;
Mohand-Saïd, Saddek;
Dhaenens, Claire-Marie;
Germain, Aurore;
Orhan, Elise;
Antonio, Aline;
Hamel, Christian;
Sahel, José-Alain;
Bhattacharya, Shomi S.;
Zeitz, Christina

Publication type:

Article

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. E2091, doi. 10.1002/humu.21460

By:

Audo, Isabelle;
Lancelot, Marie-Elise;
Mohand-Saïd, Saddek;
Antonio, Aline;
Germain, Aurore;
Sahel, José-Alain;
Bhattacharya, Shomi S.;
Zeitz, Christina

Publication type:

Article

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

Published in:

Human Mutation, 2010, v. 31, n. 11, p. E1772, doi. 10.1002/humu.21334

By:

Barragán, Isabel;
Borrego, Salud;
Pieras, Juan Ignacio;
Pozo, María González-del;
Santoyo, Javier;
Ayuso, Carmen;
Baiget, Montserrat;
Millan, José M.;
Mena, Marcela;
El-Aziz, Mai M. Abd;
Audo, Isabelle;
Zeitz, Christina;
Littink, Karin W.;
Dopazo, Joaquín;
Bhattacharya, Shomi S.;
Antiñolo, Guillermo

Publication type:

Article

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. E1361, doi. 10.1002/humu.21236

By:

Towns, Katherine V.;
Kipioti, Athina;
Long, Vernon;
McKibbin, Martin;
Maubaret, Cecilia;
Vaclavik, Veronika;
Ehsani, Parastoo;
Springell, Kelly;
Kamal, Mohammed;
Ramesar, Raj S.;
Mackey, David A.;
Moore, Anthony T.;
Mukhopadhyay, Rajarshi;
Webster, Andrew R.;
Black, Graeme C.M.;
O'Sullivan, James;
Bhattacharya, Shomi S.;
Pierce, Eric A.;
Beggs, Jean D.;
Inglehearn, Chris F.

Publication type:

Article

EYS is a major gene for rod-cone dystrophies in France.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. E1406, doi. 10.1002/humu.21249

By:

Audo, Isabelle;
Sahel, José-Alain;
Mohand-Saïd, Saddek;
Lancelot, Marie-Elise;
Antonio, Aline;
Moskova-Doumanova, Veselina;
Nandrot, Emeline F.;
Doumanov, Jordan;
Barragan, Isabel;
Antinolo, Guillermo;
Bhattacharya, Shomi S.;
Zeitz, Christina

Publication type:

Article

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E603, doi. 10.1002/humu.20995

By:

Zhang, Tianxiao;
Hua, Rui;
Xiao, Wei;
Burdon, Kathryn P.;
Bhattacharya, Shomi S.;
Craig, Jamie E.;
Shang, Dandan;
Zhao, Xiuli;
Mackey, David A.;
Moore, Anthony T.;
Luo, Yang;
Zhang, Jinsong;
Zhang, Xue

Publication type:

Article

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 638, doi. 10.1002/humu.9495

By:

Liskova, Petra;
Tuft, Stephen J.;
Gwilliam, Rhian;
Ebenezer, Neil D.;
Jirsova, Katerina;
Prescott, Quincy;
Martincova, Radka;
Pretorius, Marike;
Sinclair, Neil;
Boase, David L.;
Jeffrey, Margaret J.;
Deloukas, Panos;
Hardcastle, Alison J.;
Filipec, Martin;
Bhattacharya, Shomi S.

Publication type:

Article

Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2).

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 522, doi. 10.1002/humu.9487

By:

Ramprasad, Vedam L.;
Ebenezer, Neil D.;
Aung, Tin;
Rajagopal, Rama;
Yong, Victor H.K.;
Tuft, Stephen J.;
Viswanathan, Deepa;
El-Ashry, Mohamed F.;
Liskova, Petra;
Tan, Donald T.H.;
Bhattacharya, Shomi S.;
Kumaramanickavel, Govindasamy;
Vithana, Eranga N.

Publication type:

Article

Sequence variation within the RPGR gene: Evidence for a founder complex allele.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 273, doi. 10.1002/1098-1004(200009)16:3<273::AID-HUMU19>3.0.CO;2-W

By:

Zito, Ilaria;
Morris, Alex;
Tyson, Phil;
Winship, Ingrid;
Sharp, Dianne;
Gilbert, Dale;
Thiselton, Dawn L.;
Bhattacharya, Shomi S.;
Hardcastle, Alison J.

Publication type:

Article

Novel frameshift mutations in the RP2 gene and polymorphic variants.

Published in:

Human Mutation, 2000, v. 15, n. 6, p. 580, doi. 10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3

By:

Thiselton, Dawn L.;
Zito, Ilaria;
Plant, Catherine;
Jay, Marcelle;
Hodgson, Shirley V.;
Bird, Alan C.;
Bhattacharya, Shomi S.;
Hardcastle, Alison J.

Publication type:

Article

Novel mutations of the RPGR gene in RP3 families.

Published in:

Human Mutation, 2000, v. 15, n. 4, p. 386, doi. 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU23>3.0.CO;2-4

By:

Zito, Ilaria;
Gorin, Michael B.;
Plant, Catherine;
Bird, Alan C.;
Bhattacharya, Shomi S.;
Hardcastle, Alison J.

Publication type:

Article

Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu).

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 83, doi. 10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU12>3.0.CO;2-5

By:

Bessant, David A.R.;
Khaliq, Shagufta;
Hameed, Abdul;
Anwar, Khalid;
Payne, Annette M.;
Mehdi, S. Qasim;
Bhattacharya, Shomi S.

Publication type:

Article

Phenotype Associated with the H626P Mutation and Other Changes in the TGFBIGene in Czech Families.

Published in:

Ophthalmic Research, 2008, v. 40, n. 2, p. 105, doi. 10.1159/000115325

By:

Petra Liskova;
Gordon K. Klintworth;
Brandy L. Bowling;
Martin Filipec;
Katerina Jirsova;
Stephen J. Tuft;
Shomi S. Bhattacharya;
Alison J. Hardcastle;
Neil D. Ebenezer

Publication type:

Article

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

Published in:

Ophthalmic Research, 2006, v. 38, n. 1, p. 19, doi. 10.1159/000088493

By:

Mai M. MMA Abd El-Aziz;
Reshma J. RJP Patel;
Mohamed F. MFE El-Ashry;
Isabel IB Barragan;
Irene IM Marcos;
Salud SB Borrego;
Guillermo GA Antiñolo;
Shomi S. SSB Bhattacharya

Publication type:

Article

A Clinical and Molecular Genetic Study of Autosomal-Dominant Stromal Corneal Dystrophy in British Population.

Published in:

Ophthalmic Research, 2005, v. 37, n. 6, p. 310, doi. 10.1159/000087791

By:

Mohamed Farouk MFE EL-Ashry;
Mai Mohamed Abd MMAE El-Aziz;
Alison J. AJH Hardcastle;
Shomi S. SSB Bhattacharya;
Neil D. NDE Ebenezer

Publication type:

Article

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.

Published in:

2010

By:

Wright, Alan F.;
Chakarova, Christina F.;
Abd El-Aziz, Mai M.;
Bhattacharya, Shomi S.

Publication type:

journal article

Molecular Genetic Analysis of Two Functional Candidate Genes in the Autosomal Recessive Retinitis Pigmentosa, RP25, Locus.

Published in:

Current Eye Research, 2005, v. 30, n. 12, p. 1081, doi. 10.1080/02713680500351039

By:

Abd El-Aziz, Mai M.;
El-Ashry, Mohamed F.;
Barragan, Isabel;
Marcos, Irene;
Borrego, Salud;
Antiñolo, Guillermo;
Bhattacharya, Shomi S.

Publication type:

Article

Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein.

Published in:

International Journal of Molecular Sciences, 2013, v. 14, n. 7, p. 15121, doi. 10.3390/ijms140715121

By:

Doumanov, Jordan A.;
Zeitz, Christina;
Gimenez, Paloma Dominguez;
Audo, Isabelle;
Krishna, Abhay;
Alfano, Giovanna;
Bellido Diaz, Maria Luz;
Moskova-Doumanova, Veselina;
Lancelot, Marie-Elise;
Sahel, José-Alain;
Nandrot, Emeline F.;
Bhattacharya, Shomi S.

Publication type:

Article

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1356, doi. 10.1038/ejhg.2013.52

By:

Berry, Vanita;
Gregory-Evans, Cheryl;
Emmett, Warren;
Waseem, Naushin;
Raby, Jacob;
Prescott, DeQuincy;
Moore, Anthony T;
Bhattacharya, Shomi S

Publication type:

Article

A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 338, doi. 10.1038/ejhg.2012.158

By:

Kamenarova, Kunka;
Cherninkova, Sylvia;
Romero Durán, Margarita;
Prescott, DeQuincy;
Valdés Sánchez, Maria Lourdes;
Mitev, Vanio;
Kremensky, Ivo;
Kaneva, Radka;
Bhattacharya, Shomi S;
Tournev, Ivailo;
Chakarova, Christina

Publication type:

Article

A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1289, doi. 10.1038/ejhg.2011.130

By:

Berry, Vanita;
Ionides, Alexander C W;
Moore, Anthony T;
Bhattacharya, Shomi S

Publication type:

Article

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 4, p. 245, doi. 10.1038/sj.ejhg.5200797

By:

Keen, T. Jeffrey;
Hims, Matthew M.;
McKie, Arthur B.;
Moore, Anthony T.;
Doran, Rob M.;
Mackey, David A.;
Mansfield, David C.;
Mueller, Robert F.;
Bhattacharya, Shomi S.;
Bird, Alan C.;
Markham, Alexander F.;
Inglehearn, Chris F.

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 3, p. 197, doi. 10.1038/sj.ejhg.5200784

By:

Maugeri, Alessandra;
Flothmann, Kris;
Hemmrich, Nadine;
Ingvast, Sofie;
Jorge, Paula;
Paloma, Eva;
Patel, Reshma;
Rozet, Jean-Michael;
Tammur, Jaana;
Testa, Francesco;
Balcells, Susana;
Bird, Alan C.;
Brunner, Han G.;
Hoyng, Carel B.;
Metspalu, Andres;
Simonelli, Francesca;
Allikmets, Rando;
Bhattacharya, Shomi S.;
D'Urso, Michele

Publication type:

Article

NRL S50T mutation and the importance of ‘founder effects’ in inherited retinal dystrophies.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 10, p. 783, doi. 10.1038/sj.ejhg.5200538

By:

Bessant, David AR;
Payne, Annette M;
Plant, Catherine;
Bird, Alan C;
Swaroop, Anand;
Bhattacharya, Shomi S

Publication type:

Article

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.

Published in:

Scientific Reports, 2016, p. 19450, doi. 10.1038/srep19450

By:

Rose, Anna M.;
Shah, Amna Z.;
Venturini, Giulia;
Krishna, Abhay;
Chakravarti, Aravinda;
Rivolta, Carlo;
Bhattacharya, Shomi S.

Publication type:

Article

Human iPSC derived disease model of MERTK-associated retinitis pigmentosa.

Published in:

Scientific Reports, 2015, p. 12910, doi. 10.1038/srep12910

By:

Lukovic, Dunja;
Artero Castro, Ana;
Delgado, Ana Belen Garcia;
Bernal, María de los Angeles Martín;
Luna Pelaez, Noelia;
Díez Lloret, Andrea;
Perez Espejo, Rocío;
Kamenarova, Kunka;
Fernández Sánchez, Laura;
Cuenca, Nicolás;
Cortón, Marta;
Avila Fernandez, Almudena;
Sorkio, Anni;
Skottman, Heli;
Ayuso, Carmen;
Erceg, Slaven;
Bhattacharya, Shomi S.

Publication type:

Article

Amissense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 12, p. 2483, doi. 10.1093/hmg/ddw113

By:

Biswas, Pooja;
Murthy Chavali, Venkata Ramana;
Agnello, Giulia;
Stone, Everett;
Chakarova, Christina;
Duncan, Jacque L.;
Kannabiran, Chitra;
Homsher, Melissa;
Bhattacharya, Shomi S.;
Naeem, Muhammad Asif;
Kimchi, Adva;
Sharon, Dror;
Takeshi Iwata;
Riazuddin, Shaikh;
Reddy, G. Bhanuprakash;
Hejtmancik, J. Fielding;
Georgiou, George;
Riazuddin, S. Amer;
Ayyagari, Radha

Publication type:

Article

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 491, doi. 10.1093/hmg/ddt439

By:

Audo, Isabelle;
Bujakowska, Kinga;
Orhan, Elise;
El Shamieh, Said;
Sennlaub, Florian;
Guillonneau, Xavier;
Antonio, Aline;
Michiels, Christelle;
Lancelot, Marie-Elise;
Letexier, Melanie;
Saraiva, Jean-Paul;
Nguyen, Hoan;
Luu, Tien D.;
Léveillard, Thierry;
Poch, Olivier;
Dollfus, Hélène;
Paques, Michel;
Goureau, Olivier;
Mohand-Saïd, Saddek;
Bhattacharya, Shomi S.

Publication type:

Article

ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1507

By:

Valdés-Sánchez, Lourdes;
De la Cerda, Berta;
Diaz-Corrales, Francisco J.;
Massalini, Simone;
Chakarova, Christina F.;
Wright, Alan F.;
Bhattacharya, Shomi S.

Publication type:

Article

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 18, p. 4126, doi. 10.1093/hmg/dds242

By:

Rose, Anna M.;
Shah, Amna Z.;
Waseem, Naushin H.;
Chakarova, Christina F.;
Alfano, Giovanna;
Coussa, Razek G.;
Ajlan, Radwan;
Koenekoop, Robert K.;
Bhattacharya, Shomi S.

Publication type:

Article

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 975, doi. 10.1093/hmg/ddq543

By:

Chakarova, Christina F.;
Khanna, Hemant;
Shah, Amna Z.;
Patil, Suresh B.;
Sedmak, Tina;
Murga-Zamalloa, Carlos A.;
Papaioannou, Myrto G.;
Nagel-Wolfrum, Kerstin;
Lopez, Irma;
Munro, Peter;
Cheetham, Michael;
Koenekoop, Robert K.;
Rios, Rosa M.;
Matter, Karl;
Wolfrum, Uwe;
Swaroop, Anand;
Bhattacharya, Shomi S.

Publication type:

Article

Dominant cataract formation in association with a vimentin assembly disrupting mutation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 6, p. 1052, doi. 10.1093/hmg/ddn440

By:

Müller, Martin;
Bhattacharya, Shomi S.;
Moore, Tony;
Prescott, Quincy;
Wedig, Tatjana;
Herrmann, Harald;
Magin, Thomas M.

Publication type:

Article

Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1699, doi. 10.1093/hmg/ddm118

By:

Comitato, Antonella;
Spampanato, Carmine;
Chakarova, Christina;
Sanges, Daniela;
Bhattacharya, Shomi S.;
Marigo, Valeria

Publication type:

Article