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Molecular Vision|June 17, 2016
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesFiroz Kabir, Inayat Ullah, Shahbaz Ali, et al.Molecular Vision|December 24, 2010
Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3qNamerah Sabir, S Amer Riazuddin, Tariq Butt, et al.Advances in Experimental Medicine and Biology|May 4, 2018
Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two PedigreesKari Branham, Aditya A Guru, Igor Kozak, et al.Molecular Vision|September 1, 2015
Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani familiesShahid Y Khan, Shahbaz Ali, Muhammad Asif Naeem, et al.Investigative Ophthalmology & Visual Science|December 23, 2011
GNAT1 associated with autosomal recessive congenital stationary night blindnessMuhammad Asif Naeem, Venkata R M Chavali, Shahbaz Ali, et al.Human Molecular Genetics|October 23, 2003
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23Zubair M Ahmed, Saima Riazuddin, Jamil Ahmad, et al.Human Genetics|August 11, 2007
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3Quratul Ain, Sabiha Nazli, Saima Riazuddin, et al.The British Journal of Ophthalmology|March 31, 2011
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani familiesShagufta Naz, Shahbaz Ali, S Amer Riazuddin, et al.Molecular Vision|July 22, 2016
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial casesInayat Ullah, Firoz Kabir, Muhammad Iqbal, et al.Scientific Data|October 14, 2020
Whole genome sequencing data of multiple individuals of Pakistani descentShahid Y Khan, Muhammad Ali, Mei-Chong W Lee, et al.Pageof 22