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Page 1
The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource.
Huntley C, Loong L, Mallinson C, Bethell R, Rahman T, Alhaddad N, Tulloch O, Zhou X, Lee J, Eves P; GMSA Lynch Consortium; McRonald F, Torr B, Burn J, Shaw A, Morris EJA, Monahan K, Hardy S, Turnbull C. Huntley C, et al. EClinicalMedicine. 2024 Feb 7;69:102465. doi: 10.1016/j.eclinm.2024.102465. eCollection 2024 Mar. EClinicalMedicine. 2024. PMID: 38356732 Free PMC article.
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D, Banka S. Faundes V, et al. Among authors: bezuidenhout h. Genet Med. 2021 Jul;23(7):1202-1210. doi: 10.1038/s41436-021-01119-8. Epub 2021 Mar 5. Genet Med. 2021. PMID: 33674768 Free PMC article.
Early-Life Predictors of Fetal Alcohol Spectrum Disorders.
Kalberg WO, May PA, Buckley D, Hasken JM, Marais AS, De Vries MM, Bezuidenhout H, Manning MA, Robinson LK, Adam MP, Hoyme DB, Parry CDH, Seedat S, Elliott AJ, Hoyme HE. Kalberg WO, et al. Among authors: bezuidenhout h. Pediatrics. 2019 Dec;144(6):e20182141. doi: 10.1542/peds.2018-2141. Epub 2019 Nov 19. Pediatrics. 2019. PMID: 31744890 Free PMC article.
Multifaceted case management during pregnancy is associated with better child outcomes and less fetal alcohol syndrome.
May PA, Marais AS, Kalberg WO, de Vries MM, Buckley D, Hasken JM, Snell CL, Barnard Röhrs R, Hedrick DM, Bezuidenhout H, Anthonissen L, Bröcker E, Robinson LK, Manning MA, Hoyme HE, Seedat S, Parry CDH. May PA, et al. Among authors: bezuidenhout h. Ann Med. 2023 Dec;55(1):926-945. doi: 10.1080/07853890.2023.2185808. Ann Med. 2023. PMID: 36919586 Free PMC article.
Who is most affected by prenatal alcohol exposure: Boys or girls?
May PA, Tabachnick B, Hasken JM, Marais AS, de Vries MM, Barnard R, Joubert B, Cloete M, Botha I, Kalberg WO, Buckley D, Burroughs ZR, Bezuidenhout H, Robinson LK, Manning MA, Adnams CM, Seedat S, Parry CDH, Hoyme HE. May PA, et al. Among authors: bezuidenhout h. Drug Alcohol Depend. 2017 Aug 1;177:258-267. doi: 10.1016/j.drugalcdep.2017.04.010. Epub 2017 Jun 15. Drug Alcohol Depend. 2017. PMID: 28624747
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
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