Single-Nucleotide Polymorphisms and Glaucoma Severity

由 Bunce, Catey, Hitchings, Roger A., Bhattacharya, Shomi S., Lehmann, Ordan J.
出版 2003

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

由 Berry, Vanita, Ionides, Alexander C W, Moore, Anthony T, Bhattacharya, Shomi S
出版 2011

CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

由 Venturini, Giulia, Rose, Anna M., Shah, Amna Z., Bhattacharya, Shomi S., Rivolta, Carlo
出版 2012

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

由 Lukovic, Dunja, Moreno-Manzano, Victoria, Klabusay, Martin, Stojkovic, Miodrag, Bhattacharya, Shomi S., Erceg, Slaven
出版 2014

Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India

由 Gandra, Mamatha, Anandula, Venkataramana, Authiappan, Vidhya, Sundaramurthy, Srilekha, Raman, Rajiv, Bhattacharya, Shomi, Govindasamy, Kumaramanickavel
出版 2008

A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract

由 Berry, Vanita, Francis, Peter J., Prescott, Quincy, Waseem, Naushin H., Moore, Anthony T., Bhattacharya, Shomi S.
出版 2011

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

由 Rose, Anna M, Shah, Amna Z, Venturini, Giulia, Rivolta, Carlo, Rose, Geoffrey E, Bhattacharya, Shomi S
發表在 Ann Hum Genet (2013)

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

由 Czub, Barbara, Shah, Amna Z., Alfano, Giovanna, Kruczek, Przemysław M., Chakarova, Christina F., Bhattacharya, Shomi S.
發表在 PLoS One (2016)

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

由 Rose, Anna M., Shah, Amna Z., Venturini, Giulia, Krishna, Abhay, Chakravarti, Aravinda, Rivolta, Carlo, Bhattacharya, Shomi S.
發表在 Sci Rep (2016)

Cleavage of Mer Tyrosine Kinase (MerTK) from the Cell Surface Contributes to the Regulation of Retinal Phagocytosis

由 Law, Ah-Lai, Parinot, Célia, Chatagnon, Jonathan, Gravez, Basile, Sahel, José-Alain, Bhattacharya, Shomi S., Nandrot, Emeline F.
發表在 J Biol Chem (2015)

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

由 Alfano, Giovanna, Kruczek, Przemyslaw M., Shah, Amna Z., Kramarz, Barbara, Jeffery, Glen, Zelhof, Andrew C., Bhattacharya, Shomi S.
發表在 PLoS One (2016)

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

由 Berry, Vanita, Gregory-Evans, Cheryl, Emmett, Warren, Waseem, Naushin, Raby, Jacob, Prescott, DeQuincy, Moore, Anthony T, Bhattacharya, Shomi S
出版 2013

Control of neuronal differentiation by sumoylation of BRAF35, a subunit of the LSD1-CoREST histone demethylase complex

由 Ceballos-Chávez, María, Rivero, Sabrina, García-Gutiérrez, Pablo, Rodríguez-Paredes, Manuel, García-Domínguez, Mario, Bhattacharya, Shomi, Reyes, José C.
出版 2012

Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31

由 Wilkie, Susan E., Vaclavik, Veronika, Wu, Huimin, Bujakowska, Kinga, Chakarova, Christina F., Bhattacharya, Shomi S., Warren, Martin J., Hunt, David M.
出版 2008

Mutations in Pre-mRNA Processing Factors 3, 8, and 31 Cause Dysfunction of the Retinal Pigment Epithelium

由 Farkas, Michael H., Lew, Deborah S., Sousa, Maria E., Bujakowska, Kinga, Chatagnon, Jonathan, Bhattacharya, Shomi S., Pierce, Eric A., Nandrot, Emeline F.
出版 2014

Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study

由 Low, Sancy, Davidson, Alice E., Holder, Graham E., Hogg, Chris R., Bhattacharya, Shomi S., Black, Graeme C., Foster, Paul J., Webster, Andrew R.
出版 2011

Biallelic mutation of Protocadherin-21 (PCDH21) causes retinal degeneration in humans

由 Henderson, Robert H., Li, Zheng, El Aziz, Mai M. Abd, Mackay, Donna S., Eljinini, Mohammad A., Zeidan, Marwan, Moore, Anthony T., Bhattacharya, Shomi S., Webster, Andrew R.
出版 2010

Three Gene-Targeted Mouse Models of RNA Splicing Factor RP Show Late-Onset RPE and Retinal Degeneration

由 Graziotto, John J., Farkas, Michael H., Bujakowska, Kinga, Deramaudt, Bertrand M., Zhang, Qi, Nandrot, Emeline F., Inglehearn, Chris F., Bhattacharya, Shomi S., Pierce, Eric A.
出版 2011

Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa

由 Maubaret, Cécilia, Kosmaoglou, Maria, Low, Sancy, Chakarova, Christina F., Bidot, Samuel, Thauvin-Robinet, Christel, Robson, Anthony G., Waseem, Naushin, Cheetham, Michael E., Bhattacharya, Shomi S.
出版 2012

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

由 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
出版 2010