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Page 1
Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.
Shahzad M, Sires Campos J, Tariq N, Herraiz Serrano C, Yousaf R, Jiménez-Cervantes C, Yousaf S, Waryah YM, Dad HA, Blue EM, Sobreira N, López-Giráldez F; University of Washington Center for Mendelian Genomics; Kausar T, Ali M, Waryah AM, Riazuddin S, Shaikh RS, García-Borrón JC, Ahmed ZM. Shahzad M, et al. Among authors: yousaf r, yousaf s. Pigment Cell Melanoma Res. 2015 Nov;28(6):730-5. doi: 10.1111/pcmr.12400. Epub 2015 Sep 22. Pigment Cell Melanoma Res. 2015. PMID: 26197705 Free PMC article.
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.
Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S. Ahmed ZM, et al. Among authors: yousaf r. Am J Hum Genet. 2011 Jan 7;88(1):19-29. doi: 10.1016/j.ajhg.2010.11.010. Epub 2010 Dec 23. Am J Hum Genet. 2011. PMID: 21185009 Free PMC article.
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM. Riazuddin S, et al. Among authors: yousaf r. Nat Genet. 2012 Nov;44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30. Nat Genet. 2012. PMID: 23023331 Free PMC article.
Tricellulin deficiency affects tight junction architecture and cochlear hair cells.
Nayak G, Lee SI, Yousaf R, Edelmann SE, Trincot C, Van Itallie CM, Sinha GP, Rafeeq M, Jones SM, Belyantseva IA, Anderson JM, Forge A, Frolenkov GI, Riazuddin S. Nayak G, et al. Among authors: yousaf r. J Clin Invest. 2013 Sep;123(9):4036-49. doi: 10.1172/JCI69031. Epub 2013 Aug 27. J Clin Invest. 2013. PMID: 23979167 Free PMC article.
Variants of human CLDN9 cause mild to profound hearing loss.
Ramzan M, Philippe C, Belyantseva IA, Nakano Y, Fenollar-Ferrer C, Tona R, Yousaf R, Basheer R, Imtiaz A, Faridi R, Munir Z, Idrees H, Salman M, Nambot S, Vitobello A, Kartti S, Zarrik O, Witmer PD, Sobreria N, Ibrahimi A, Banfi B, Moutton S, Friedman TB, Naz S. Ramzan M, et al. Among authors: yousaf r. Hum Mutat. 2021 Oct;42(10):1321-1335. doi: 10.1002/humu.24260. Epub 2021 Aug 1. Hum Mutat. 2021. PMID: 34265170 Free PMC article.
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Adeyemo A, Faridi R, Chattaraj P, Yousaf R, Tona R, Okorie S, Bharadwaj T, Nouel-Saied LM, Acharya A, Schrauwen I, Morell RJ, Leal SM, Friedman TB, Griffith AJ, Roux I. Adeyemo A, et al. Among authors: yousaf r. Eur J Hum Genet. 2022 Jan;30(1):42-52. doi: 10.1038/s41431-021-00984-w. Epub 2021 Nov 26. Eur J Hum Genet. 2022. PMID: 34837038 Free PMC article.
45 results