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

od Czub, Barbara, Shah, Amna Z., Alfano, Giovanna, Kruczek, Przemysław M., Chakarova, Christina F., Bhattacharya, Shomi S.
Wydane w PLoS One (2016)

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

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

Transepithelial resistance in human bestrophin-1 stably transfected Madin–Darby canine kidney cells

od Mladenova, Kirilka, Petrova, Svetla, Moskova-Doumanova, Veselina, Topouzova-Hristova, Tanya, Stoitsova, Stoyanka, Tabashka, Irena, Chakarova, Christina, Lalchev, Zdravko, Doumanov, Jordan
Wydane w Biotechnol Biotechnol Equip (2015)

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

od 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.
Wydane 2012

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene

od Kousal, Bohdan, Skalicka, Pavlina, Valesova, Lucie, Fletcher, Tracy, Hart-Holden, Niki, O'Grady, Anna, Chakarova, Christina F., Michaelides, Michel, Hardcastle, Alison J., Liskova, Petra
Wydane 2014

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

od 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
Wydane 2013

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

od 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.
Wydane 2013

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population

od Coussa, Razek Georges, Chakarova, Christina, Ajlan, Radwan, Taha, Mohammed, Kavalec, Conrad, Gomolin, Julius, Khan, Ayesha, Lopez, Irma, Ren, Huanan, Waseem, Naushin, Kamenarova, Kunka, Bhattacharya, Shomi S., Koenekoop, Robert K.
Wydane w Invest Ophthalmol Vis Sci (2015)

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

od 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.
Wydane w J Mol Genet Med (2013)

Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

od Sergouniotis, Panagiotis I., Chakarova, Christina, Murphy, Cian, Becker, Mirjana, Lenassi, Eva, Arno, Gavin, Lek, Monkol, MacArthur, Daniel G., Bhattacharya, Shomi S., Moore, Anthony T., Holder, Graham E., Robson, Anthony G., Wolfrum, Uwe, Webster, Andrew R., Plagnol, Vincent
Wydane 2014

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

od Ba-Abbad, Rola, Leys, Monique, Wang, Xinjing, Chakarova, Christina, Waseem, Naushin, Carss, Keren J., Raymond, F. Lucy, Bujakowska, Kinga M., Pierce, Eric A., Mahroo, Omar A., Mohamed, Moin D., Holder, Graham E., Hummel, Marybeth, Arno, Gavin, Webster, Andrew R.
Wydane w Invest Ophthalmol Vis Sci (2018)

Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration

od Friedman, James S. , Chang, Bo , Kannabiran, Chitra , Chakarova, Christina , Singh, Hardeep P. , Jalali, Subhadra , Hawes, Norman L. , Branham, Kari , Othman, Mohammad , Filippova, Elena , Thompson, Debra A. , Webster, Andrew R. , Andréasson, Sten , Jacobson, Samuel G. , Bhattacharya, Shomi S. , Heckenlively, John R. , Swaroop, Anand 
Wydane 2006

Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins

od Valdés-Sánchez, Lourdes, Calado, Sofia M., de la Cerda, Berta, Aramburu, Ana, García-Delgado, Ana Belén, Massalini, Simone, Montero-Sánchez, Adoración, Bhatia, Vaibhav, Rodríguez-Bocanegra, Eduardo, Diez-Lloret, Andrea, Rodríguez-Martínez, Daniel, Chakarova, Christina, Bhattacharya, Shom S., Díaz-Corrales, Francisco J.
Wydane w Mol Med (2019)

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

od 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.
Wydane 2011

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration

od Biswas, Pooja, Chavali, Venkata Ramana Murthy, Agnello, Giulia, Stone, Everett, Chakarova, Christina, Duncan, Jacque L., Kannabiran, Chitra, Homsher, Melissa, Bhattacharya, Shomi S., Naeem, Muhammad Asif, Kimchi, Adva, Sharon, Dror, Iwata, Takeshi, Riazuddin, Shaikh, Reddy, G. Bhanuprakash, Hejtmancik, J. Fielding, Georgiou, George, Riazuddin, S. Amer, Ayyagari, Radha
Wydane w Hum Mol Genet (2016)

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

od 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
Wydane 2008

A Dominant Mutation in Hexokinase 1 (HK1) Causes Retinitis Pigmentosa

od Sullivan, Lori S., Koboldt, Daniel C., Bowne, Sara J., Lang, Steven, Blanton, Susan H., Cadena, Elizabeth, Avery, Cheryl E., Lewis, Richard A., Webb-Jones, Kaylie, Wheaton, Dianna H., Birch, David G., Coussa, Razck, Ren, Huanan, Lopez, Irma, Chakarova, Christina, Koenekoop, Robert K., Garcia, Charles A., Fulton, Robert S., Wilson, Richard K., Weinstock, George M., Daiger, Stephen P.
Wydane w Invest Ophthalmol Vis Sci (2014)

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy

od Chakarova, Christina F. , Papaioannou, Myrto G. , Khanna, Hemant , Lopez, Irma , Waseem, Naushin , Shah, Amna , Theis, Torsten , Friedman, James , Maubaret, Cecilia , Bujakowska, Kinga , Veraitch, Brotati , El-Aziz, Mai M. Abd , Prescott, De Quincy , Parapuram, Sunil K. , Bickmore, Wendy A. , Munro, Peter M. G. , Gal, Andreas , Hamel, Christian P. , Marigo, Valeria , Ponting, Chris P. , Wissinger, Bernd , Zrenner, Eberhart , Matter, Karl , Swaroop, Anand , Koenekoop, Robert K. , Bhattacharya, Shomi S. 
Wydane 2007

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

od Waseem, Naushin H., Low, Sancy, Shah, Amna Z., Avisetti, Deepa, Ostergaard, Pia, Simpson, Michael, Niemiec, Katarzyna A., Martin-Martin, Belen, Aldehlawi, Hebah, Usman, Saima, Lee, Pak Sang, Khawaja, Anthony P., Ruddle, Jonathan B., Shah, Ameet, Sackey, Ege, Day, Alexander, Jiang, Yuzhen, Swinfield, Geoff, Viswanathan, Ananth, Alfano, Giovanna, Chakarova, Christina, Cordell, Heather J., Garway-Heath, David F., Khaw, Peng T., Bhattacharya, Shomi S., Waseem, Ahmad, Foster, Paul J.
Wydane w PLoS Genet (2020)

NMNAT1 mutations cause Leber congenital amaurosis

od Falk, Marni J, Zhang, Qi, Nakamaru-Ogiso, Eiko, Kannabiran, Chitra, Fonseca-Kelly, Zoe, Chakarova, Christina, Audo, Isabelle, Mackay, Donna S, Zeitz, Christina, Borman, Arundhati Dev, Staniszewska, Magdalena, Shukla, Rachna, Palavalli, Lakshmi, Mohand-Said, Saddek, Waseem, Naushin H, Jalali, Subhadra, Perin, Juan C, Place, Emily, Ostrovsky, Julian, Xiao, Rui, Bhattacharya, Shomi S, Consugar, Mark, Webster, Andrew R, Sahel, José-Alain, Moore, Anthony T, Berson, Eliot L, Liu, Qin, Gai, Xiaowu, Pierce, Eric A.
Wydane 2012