Publications
Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet 23, 1207-15 (2015).
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat 40, 53-72 (2019).
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. Pigment Cell Melanoma Res 29, 231-5 (2016).
Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population. Pigment Cell Melanoma Res 28, 730-5 (2015).
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. Sci Rep 7, 44185 (2017).
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. Hum Mutat 37, 991-1003 (2016).