Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment

por Ahmed, Zubair M, Jaworek, Thomas J, Sarangdhar, Gowri N, Zheng, Lili, Gul, Khitab, Khan, Shaheen N, Friedman, Thomas B, Sisk, Robert A, Bartles, James R, Riazuddin, Sheikh, Riazuddin, Saima
Publicado en J Med Genet (2018)

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

por Rehman, Atteeq U., Gul, Khitab, Morell, Robert J., Lee, Kwanghyuk, Ahmed, Zubair M., Riazuddin, Saima, Ali, Rana A., Shahzad, Mohsin, Jaleel, Ateeq-ul, Andrade, Paula B., Khan, Shaheen N., Khan, Saadullah, Brewer, Carmen C., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, Friedman, Thomas B.
Publicado 2011

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

por Ansar, Muhammad, Chung, Hyung-lok, Taylor, Rachel L., Nazir, Aamir, Imtiaz, Samina, Sarwar, Muhammad T., Manousopoulou, Alkistis, Makrythanasis, Periklis, Saeed, Sondas, Falconnet, Emilie, Guipponi, Michel, Pournaras, Constantin J., Ansari, Maqsood A., Ranza, Emmanuelle, Santoni, Federico A., Ahmed, Jawad, Shah, Inayat, Gul, Khitab, Black, Graeme CM., Bellen, Hugo J., Antonarakis, Stylianos E.
Publicado en Am J Hum Genet (2018)

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

por Rehman, Atteeq U, Santos-Cortez, Regie Lyn P, Drummond, Meghan C, Shahzad, Mohsin, Lee, Kwanghyuk, Morell, Robert J, Ansar, Muhammad, Jan, Abid, Wang, Xin, Aziz, Abdul, Riazuddin, Saima, Smith, Joshua D, Wang, Gao T, Ahmed, Zubair M, Gul, Khitab, Shearer, A Eliot, Smith, Richard J H, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Hinnant, John, Khan, Shaheen N, Fisher, Rachel A, Ahmad, Wasim, Friderici, Karen H, Riazuddin, Sheikh, Friedman, Thomas B, Wilch, Ellen S, Leal, Suzanne M
Publicado en Eur J Hum Genet (2015)