Publications

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