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Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
Frank DN, Giese APJ, Hafren L, Bootpetch TC, Yarza TKL, Steritz MJ, Pedro M, Labra PJ, Daly KA, Tantoco MLC, Szeremeta W, Reyes-Quintos MRT, Ahankoob N, Llanes EGDV, Pine HS, Yousaf S, Ir D, Einarsdottir E, de la Cruz RAR, Lee NR, Nonato RMA, Robertson CE, Ong KMC, Magno JPM, Chiong ANE, Espiritu-Chiong MC, San Agustin ML, Cruz TLG, Abes GT, Bamshad MJ, Cutiongco-de la Paz EM, Kere J, Nickerson DA, Mohlke KL, Riazuddin S, Chan A, Mattila PS, Leal SM, Ryan AF, Ahmed ZM, Chonmaitree T, Sale MM, Chiong CM, Santos-Cortez RLP. Frank DN, et al. Among authors: leal sm. J Med Genet. 2021 Jul;58(7):442-452. doi: 10.1136/jmedgenet-2020-106844. Epub 2020 Jul 24. J Med Genet. 2021. PMID: 32709676 Free PMC article.
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.
Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velásquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ. Schultz JM, et al. Among authors: leal sm. Am J Hum Genet. 2009 Jul;85(1):25-39. doi: 10.1016/j.ajhg.2009.06.003. Epub 2009 Jul 2. Am J Hum Genet. 2009. PMID: 19576567 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: leal sm. 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.
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA; NHLBI GO Exome Sequencing Project; Milewicz DM. Regalado ES, et al. Among authors: leal sm. Circ Res. 2011 Sep 2;109(6):680-6. doi: 10.1161/CIRCRESAHA.111.248161. Epub 2011 Jul 21. Circ Res. 2011. PMID: 21778426 Free PMC article.
402 results