Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

by Jiaox, Xiaodong, Khan, Shahid Y., Irum, Bushra, Khan, Arif O., Wang, Qiwei, Kabir, Firoz, Khan, Asma A., Husnain, Tayyab, Akram, Javed, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Published 2015

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families

by Khan, Shahid Y., Ali, Shahbaz, Naeem, Muhammad Asif, Khan, Shaheen N., Husnain, Tayyab, Butt, Nadeem H., Qazi, Zaheeruddin A., Akram, Javed, Riazuddin, Sheikh, Ayyagari, Radha, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Published 2015

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

by Irum, Bushra, Khan, Shahid Y., Ali, Muhammad, Kaul, Haiba, Kabir, Firoz, Rauf, Bushra, Fatima, Fareeha, Nadeem, Raheela, Khan, Arif O., Al Obaisi, Saif, Naeem, Muhammad Asif, Nasir, Idrees A., Khan, Shaheen N., Husnain, Tayyab, Riazuddin, Sheikh, Akram, Javed, Eghrari, Allen O., Riazuddin, S. Amer
Published 2016

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

by Irum, Bushra, Khan, Shahid Y., Ali, Muhammad, Daud, Muhammad, Kabir, Firoz, Rauf, Bushra, Fatima, Fareeha, Iqbal, Hira, Khan, Arif O., Al Obaisi, Saif, Naeem, Muhammad Asif, Nasir, Idrees A., Khan, Shaheen N., Husnain, Tayyab, Riazuddin, Sheikh, Akram, Javed, Eghrari, Allen O., Riazuddin, S. Amer
Published 2016

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

by Khan, Shahid Y., Vasanth, Shivakumar, Kabir, Firoz, Gottsch, John D., Khan, Arif O., Chaerkady, Raghothama, Lee, Mei-Chong W., Leitch, Carmen C., Ma, Zhiwei, Laux, Julie, Villasmil, Rafael, Khan, Shaheen N., Riazuddin, Sheikh, Akram, Javed, Cole, Robert N., Talbot, C. Conover, Pourmand, Nader, Zaghloul, Norann A., Hejtmancik, J. Fielding, Riazuddin, S. Amer
Published 2016

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

by Ahmed, Zubair M, Masmoudi, Saber, Kalay, Ersan, Belyantseva, Inna A, Mosrati, Mohamed Ali, Collin, Rob W J, Riazuddin, Saima, Hmani-Aifa, Mounira, Venselaar, Hanka, Kawar, Mayya N, Abdelaziz, Tlili, van der Zwaag, Bert, Khan, Shahid Y, Ayadi, Leila, Riazuddin, S Amer, Morell, Robert J, Griffith, Andrew J, Charfedine, Ilhem, Çaylan, Refik, Oostrik, Jaap, Karaguzel, Ahmet, Ghorbel, Abdelmonem, Riazuddin, Sheikh, Friedman, Thomas B, Ayadi, Hammadi, Kremer, Hannie
Published 2008