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

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

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

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

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

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

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

by Czub, Barbara, Shah, Amna Z., Alfano, Giovanna, Kruczek, Przemysław M., Chakarova, Christina F., Bhattacharya, Shomi S.
Published 2016

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

by Rose, Anna M., Shah, Amna Z., Venturini, Giulia, Krishna, Abhay, Chakravarti, Aravinda, Rivolta, Carlo, Bhattacharya, Shomi S.
Published 2016

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

by Rose, Anna M, Shah, Amna Z, Venturini, Giulia, Rivolta, Carlo, Rose, Geoffrey E, Bhattacharya, Shomi S
Published 2013

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

by Alfano, Giovanna, Kruczek, Przemyslaw M., Shah, Amna Z., Kramarz, Barbara, Jeffery, Glen, Zelhof, Andrew C., Bhattacharya, Shomi S.
Published 2016

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

by Audo, Isabelle, Bujakowska, Kinga, Mohand-Saïd, Saddek, Tronche, Sophie, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Lonjou, Christine, Carpentier, Wassila, Sahel, José-Alain, Bhattacharya, Shomi, Zeitz, Christina
Published 2011

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

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

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

by 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.
Published 2012

Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

by Kamenarova, Kunka, Corton, Marta, García-Sandoval, Blanca, Fernández-San Jose, Patricia, Panchev, Valentin, Ávila-Fernández, Almudena, López-Molina, Maria Isabel, Chakarova, Christina, Ayuso, Carmen, Bhattacharya, Shomi S.
Published 2013

High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation

by Liskova, Petra, Gwilliam, Rhian, Filipec, Martin, Jirsova, Katerina, Reinstein Merjava, Stanislava, Deloukas, Panos, Webb, Tom R., Bhattacharya, Shomi S., Ebenezer, Neil D., Morris, Alex G., Hardcastle, Alison J.
Published 2012

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

by Audo, Isabelle, Bujakowska, Kinga M, Léveillard, Thierry, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Germain, Aurore, Antonio, Aline, Michiels, Christelle, Saraiva, Jean-Paul, Letexier, Mélanie, Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina
Published 2012

RDH12 retinopathy: novel mutations and phenotypic description

by Mackay, Donna S., Dev Borman, Arundhati, Moradi, Phillip, Henderson, Robert H., Li, Zheng, Wright, Genevieve A., Waseem, Naushin, Gandra, Mamatha, Thompson, Dorothy A., Bhattacharya, Shomi S., Holder, Graham E., Webster, Andrew R., Moore, Anthony T.
Published 2011

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

by Doumanov, Jordan A., Zeitz, Christina, Gimenez, Paloma Dominguez, Audo, Isabelle, Krishna, Abhay, Alfano, Giovanna, Diaz, Maria Luz Bellido, Moskova-Doumanova, Veselina, Lancelot, Marie-Elise, Sahel, José-Alain, Nandrot, Emeline F., Bhattacharya, Shomi S.
Published 2013

A map of human microRNA variation uncovers unexpectedly high levels of variability

by Carbonell, José, Alloza, Eva, Arce, Pablo, Borrego, Salud, Santoyo, Javier, Ruiz-Ferrer, Macarena, Medina, Ignacio, Jiménez-Almazán, Jorge, Méndez-Vidal, Cristina, González-del Pozo, María, Vela, Alicia, Bhattacharya, Shomi S, Antiñolo, Guillermo, Dopazo, Joaquín
Published 2012

Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma

by Vishal, Mansi, Sharma, Anchal, Kaurani, Lalit, Alfano, Giovanna, Mookherjee, Suddhasil, Narta, Kiran, Agrawal, Jyoti, Bhattacharya, Iman, Roychoudhury, Susanta, Ray, Jharna, Waseem, Naushin H., Bhattacharya, Shomi S., Basu, Analabha, Sen, Abhijit, Ray, Kunal, Mukhopadhyay, Arijit
Published 2016

A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT

by Rose, Anna M., Shah, Amna Z., Alfano, Giovanna, Bujakowska, Kinga M., Barker, Amy F., Robertson, J Louis, Rahman, Sufia, Sánchez, Lourdes Valdés, Diaz-Corrales, Francisco J., Chakarova, Christina F., Krishna, Abhay, Bhattacharya, Shomi S.
Published 2013

Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

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.
Published 2015

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

by Dopazo, Joaquín, Amadoz, Alicia, Bleda, Marta, Garcia-Alonso, Luz, Alemán, Alejandro, García-García, Francisco, Rodriguez, Juan A., Daub, Josephine T., Muntané, Gerard, Rueda, Antonio, Vela-Boza, Alicia, López-Domingo, Francisco J., Florido, Javier P., Arce, Pablo, Ruiz-Ferrer, Macarena, Méndez-Vidal, Cristina, Arnold, Todd E., Spleiss, Olivia, Alvarez-Tejado, Miguel, Navarro, Arcadi, Bhattacharya, Shomi S., Borrego, Salud, Santoyo-López, Javier, Antiñolo, Guillermo
Published 2016