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Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry.
Earle NJ, Winbo A, Crawford J, Wheeler M, Stiles R, Donoghue T, Stiles MK, Hayes I, Marcondes L, Martin A, Skinner JR. Earle NJ, et al. Among authors: hayes i. Circ Heart Fail. 2024 Mar;17(3):e010970. doi: 10.1161/CIRCHEARTFAILURE.123.010970. Epub 2024 Mar 8. Circ Heart Fail. 2024. PMID: 38456273 Free PMC article.
Correction to: Evolution of surgical approach to rectal cancer resection: A multinational registry assessment.
Sijmons JML, Dekker JWT, Tuynman JB, Mohan HM, Smart P, Heriot AG, Walker K, Kuryba A, Matthiessen P, Tanis PJ; International Colorectal Cancer Registry Collaboration (ICORC) Collaborators. Sijmons JML, et al. Int J Colorectal Dis. 2024 Feb 8;39(1):25. doi: 10.1007/s00384-024-04599-7. Int J Colorectal Dis. 2024. PMID: 38329560 Free PMC article. No abstract available.
A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.
Whitford W, Taylor J, Hayes I, Smith W, Snell RG, Lehnert K, Jacobsen JC. Whitford W, et al. Among authors: hayes i. Mol Genet Genomic Med. 2024 Jan;12(1):e2350. doi: 10.1002/mgg3.2350. Epub 2023 Dec 26. Mol Genet Genomic Med. 2024. PMID: 38146907 Free PMC article.
Service spotlight: Run For Life Trinidad and Tobago.
Adams Morancie N, Spencer L, Hayes I. Adams Morancie N, et al. Among authors: hayes i. Br J Sports Med. 2024 Jan 3;58(2):114-115. doi: 10.1136/bjsports-2023-107775. Br J Sports Med. 2024. PMID: 38050020 No abstract available.
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.
139 results