Publications

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Author Title [ Year(Desc)]
Filters: Author is Shaikh, Rehan S  [Clear All Filters]
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).
2017
Shahzad, M. et al. Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. Sci Rep 7, 44185 (2017).
2018
Santos-Cortez, R. Lyn P. et al. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet 103, 679-690 (2018).
2019
Larson, E. D. et al. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
2020
Bootpetch, T. C. et al. Multi-omic studies on missense PLG variants in families with otitis media. Sci Rep 10, 15035 (2020).