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

por 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.
Publicado 2013

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

por 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
Publicado 2012

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

por 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.
Publicado 2013

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

por 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
Publicado 2016

Highly Efficient Neural Conversion of Human Pluripotent Stem Cells in Adherent and Animal‐Free Conditions

por Lukovic, Dunja, Diez Lloret, Andrea, Stojkovic, Petra, Rodríguez‐Martínez, Daniel, Perez Arago, Maria Amparo, Rodriguez‐Jimenez, Francisco Javier, González‐Rodríguez, Patricia, López‐Barneo, José, Sykova, Eva, Jendelova, Pavla, Kostic, Jelena, Moreno‐Manzano, Victoria, Stojkovic, Miodrag, Bhattacharya, Shomi S., Erceg, Slaven
Publicado 2017

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa

por 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
Publicado 2010

Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

por 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.
Publicado 2015

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

por 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, Kloeckener-Gruissem, Barbara
Publicado 2019

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

por 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
Publicado 2016

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

por 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.
Publicado 2020

NMNAT1 mutations cause Leber congenital amaurosis

por 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.
Publicado 2012

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

por Khanna, Hemant, Davis, Erica E., Murga-Zamalloa, Carlos A., Estrada, Alejandro, Lopez, Irma, den Hollander, Anneke I., Zonneveld, Marijke N., Othman, Mohammad I., Waseem, Naushin, Chakarova, Christina F., Maubaret, Cecilia, Diaz-Font, Anna, MacDonald, Ian, Muzny, Donna M., Wheeler, David A., Morgan, Margaret, Lewis, Lora R., Logan, Clare V., Tan, Perciliz L., Beer, Michael A., Inglehearn, Chris F., Lewis, Richard A., Jacobson, Samuel G., Bergmann, Carsten, Beales, Philip L., Attié-Bitach, Tania, Johnson, Colin A., Otto, Edgar A., Bhattacharya, Shomi S., Hildebrandt, Friedhelm, Gibbs, Richard A., Koenekoop, Robert K., Swaroop, Anand, Katsanis, Nicholas
Publicado 2009

ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma

por Nongpiur, Monisha E., Khor, Chiea Chuen, Jia, Hongyan, Cornes, Belinda K., Chen, Li-Jia, Qiao, Chunyan, Nair, K. Saidas, Cheng, Ching-Yu, Xu, Liang, George, Ronnie, Tan, Do, Abu-Amero, Khaled, Perera, Shamira A., Ozaki, Mineo, Mizoguchi, Takanori, Kurimoto, Yasuo, Low, Sancy, Tajudin, Liza-Sharmini A., Ho, Ching-Lin, Tham, Clement C. Y., Soto, Ileana, Chew, Paul T. K., Wong, Hon-Tym, Shantha, Balekudaru, Kuroda, Masako, Osman, Essam A., Tang, Guangxian, Fan, Sujie, Meng, Hailin, Wang, Hua, Feng, Bo, Yong, Victor H. K., Ting, Serena M. L., Li, Yang, Wang, Ya-Xing, Li, Zheng, Lavanya, Raghavan, Wu, Ren-Yi, Zheng, Ying-Feng, Su, Daniel H., Loon, Seng-Chee, Allingham, R. Rand, Hauser, Michael A., Soumittra, Nagaswamy, Ramprasad, Vedam L., Waseem, Naushin, Yaakub, Azhany, Chia, Kee-Seng, Kumaramanickavel, Govindasamy, Wong, Tina T., How, Alicia C., Chau, Tran Nguyen Bich, Simmons, Cameron P., Bei, Jin-Xin, Zeng, Yi-Xin, Bhattacharya, Shomi S., Zhang, Mingzhi, Tan, Donald T., Teo, Yik-Ying, Al-Obeidan, Saleh A., Hon, Do Nhu, Tai, E-Shyong, Saw, Seang-Mei, Foster, Paul J., Vijaya, Lingam, Jonas, Jost B., Wong, Tien-Yin, John, Simon W. M., Pang, Chi-Pui, Vithana, Eranga N., Wang, Ningli, Aung, Tin
Publicado 2014

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

por Verhoeven, Virginie J. M., Hysi, Pirro G., Saw, Seang-Mei, Vitart, Veronique, Mirshahi, Alireza, Guggenheim, Jeremy A., Cotch, Mary Frances, Yamashiro, Kenji, Baird, Paul N., Mackey, David A., Wojciechowski, Robert, Ikram, M. Kamran, Hewitt, Alex W., Duggal, Priya, Janmahasatian, Sarayut, Khor, Chiea-Chuen, Fan, Qiao, Zhou, Xin, Young, Terri L., Tai, E-Shyong, Goh, Liang-Kee, Li, Yi-Ju, Aung, Tin, Vithana, Eranga, Teo, Yik-Ying, Tay, Wanting, Sim, Xueling, Rudan, Igor, Hayward, Caroline, Wright, Alan F., Polasek, Ozren, Campbell, Harry, Wilson, James F., Fleck, Brian W., Nakata, Isao, Yoshimura, Nagahisa, Yamada, Ryo, Matsuda, Fumihiko, Ohno-Matsui, Kyoko, Nag, Abhishek, McMahon, George, Pourcain, Beate St., Lu, Yi, Rahi, Jugnoo S., Cumberland, Phillippa M., Bhattacharya, Shomi, Simpson, Claire L., Atwood, Larry D., Li, Xiaohui, Raffel, Leslie J., Murgia, Federico, Portas, Laura, Despriet, Dominiek D. G., van Koolwijk, Leonieke M. E., Wolfram, Christian, Lackner, Karl J., Tönjes, Anke, Mägi, Reedik, Lehtimäki, Terho, Kähönen, Mika, Esko, Tõnu, Metspalu, Andres, Rantanen, Taina, Pärssinen, Olavi, Klein, Barbara E., Meitinger, Thomas, Spector, Timothy D., Oostra, Ben A., Smith, Albert V., de Jong, Paulus T. V. M., Hofman, Albert, Amin, Najaf, Karssen, Lennart C., Rivadeneira, Fernando, Vingerling, Johannes R., Eiríksdóttir, Guðný, Gudnason, Vilmundur, Döring, Angela, Bettecken, Thomas, Uitterlinden, André G., Williams, Cathy, Zeller, Tanja, Castagné, Raphaële, Oexle, Konrad, van Duijn, Cornelia M., Iyengar, Sudha K., Mitchell, Paul, Wang, Jie Jin, Höhn, René, Pfeiffer, Norbert, Bailey-Wilson, Joan E., Stambolian, Dwight, Wong, Tien-Yin, Hammond, Christopher J., Klaver, Caroline C. W.
Publicado 2012