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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Nil Z, et al. Among authors: hayes i. Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. Am J Hum Genet. 2023. PMID: 37827158 Free PMC article.
Clinical and radiological findings in Schinzel-Giedion syndrome.
Al-Mudaffer M, Oley C, Price S, Hayes I, Stewart A, Hall CM, Reardon W. Al-Mudaffer M, et al. Among authors: hayes i. Eur J Pediatr. 2008 Dec;167(12):1399-407. doi: 10.1007/s00431-008-0683-4. Epub 2008 May 7. Eur J Pediatr. 2008. PMID: 18461363
"Donohue syndrome".
de Bock M, Hayes I, Semple R. de Bock M, et al. Among authors: hayes i. J Clin Endocrinol Metab. 2012 May;97(5):1416-7. doi: 10.1210/jc.2011-3215. Epub 2012 Mar 7. J Clin Endocrinol Metab. 2012. PMID: 22399506 No abstract available.
Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds.
Skinner JR, Crawford J, Smith W, Aitken A, Heaven D, Evans CA, Hayes I, Neas KR, Stables S, Koelmeyer T, Denmark L, Vuletic J, Maxwell F, White K, Yang T, Roden DM, Leren TP, Shelling A, Love DR; Cardiac Inherited Disease Group New Zealand. Skinner JR, et al. Among authors: hayes i. Heart Rhythm. 2011 Mar;8(3):412-9. doi: 10.1016/j.hrthm.2010.11.016. Epub 2010 Nov 9. Heart Rhythm. 2011. PMID: 21070882
Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.
Marcondes L, Crawford J, Earle N, Smith W, Hayes I, Morrow P, Donoghue T, Graham A, Love D, Skinner JR; Cardiac Inherited Disease Group New Zealand. Marcondes L, et al. Among authors: hayes i. PLoS One. 2018 Apr 19;13(4):e0196078. doi: 10.1371/journal.pone.0196078. eCollection 2018. PLoS One. 2018. PMID: 29672598 Free PMC article.
Detection of sudden death syndromes in New Zealand.
Earle N, Crawford J, Gibson K, Love D, Hayes I, Neas K, Stiles M, Graham M, Donoghue T, Aitken A, Skinner J. Earle N, et al. Among authors: hayes i. N Z Med J. 2016 Nov 18;129(1445):67-74. N Z Med J. 2016. PMID: 27857240
139 results