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Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Sörmann J, Schewe M, Proks P, Jouen-Tachoire T, Rao S, Riel EB, Agre KE, Begtrup A, Dean J, Descartes M, Fischer J, Gardham A, Lahner C, Mark PR, Muppidi S, Pichurin PN, Porrmann J, Schallner J, Smith K, Straub V, Vasudevan P, Willaert R, Carpenter EP, Rödström KEJ, Hahn MG, Müller T, Baukrowitz T, Hurles ME, Wright CF, Tucker SJ. Sörmann J, et al. Among authors: hurles me. Nat Genet. 2022 Oct;54(10):1534-1543. doi: 10.1038/s41588-022-01185-x. Epub 2022 Oct 4. Nat Genet. 2022. PMID: 36195757 Free PMC article.
Older males beget more mutations.
Hurles M. Hurles M. Nat Genet. 2012 Nov;44(11):1174-6. doi: 10.1038/ng.2448. Nat Genet. 2012. PMID: 23104062
Empirical research on the ethics of genomic research.
Middleton A, Parker M, Wright CF, Bragin E, Hurles ME; DDD Study. Middleton A, et al. Among authors: hurles me. Am J Med Genet A. 2013 Aug;161A(8):2099-101. doi: 10.1002/ajmg.a.36067. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813698 Free PMC article.
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study. Wright CF, et al. Among authors: hurles me. Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17. Lancet. 2015. PMID: 25529582 Free PMC article.
No expectation to share incidental findings in genomic research.
Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M; Deciphering Developmental Disorders Study. Middleton A, et al. Among authors: hurles me. Lancet. 2015 Apr 4;385(9975):1289-90. doi: 10.1016/S0140-6736(14)62119-X. Epub 2014 Dec 17. Lancet. 2015. PMID: 25529584 No abstract available.
283 results