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

Bằng 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
Xuất bản năm J Med Genet (2018)

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

Bằng 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.
Được phát hành 2011

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

Bằng 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.
Xuất bản năm Am J Hum Genet (2018)

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

Bằng 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
Xuất bản năm Eur J Hum Genet (2015)