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Page 1
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Quarrell OW, Clarke AJ, Compton C, de Die-Smulders CEM, Fryer A, Jenkins S, Lahiri N, MacLeod R, Miedzybrodzka Z, Morrison PJ, Musgrave H, O'Driscoll M, Strong M, van Belzen MJ, Vermeer S, Verschuuren-Bemelmans CC, Bijlsma EK. Quarrell OW, et al. Among authors: clarke aj. Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):35-39. doi: 10.1002/ajmg.b.32582. Epub 2017 Nov 2. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 29095566 Free article.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study; Banka S. Faundes V, et al. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276005 Free PMC article.
A case-note review of continued pregnancies found to be at a high risk of Huntington's disease: considerations for clinical practice.
Wadrup F, Holden S, MacLeod R, Miedzybrodzka Z, Németh AH, Owens S, Pasalodos S, Quarrell O, Clarke AJ; UK Huntington’s Disease Predictive Testing Consortium. Wadrup F, et al. Among authors: clarke aj. Eur J Hum Genet. 2019 Aug;27(8):1215-1224. doi: 10.1038/s41431-019-0375-8. Epub 2019 Mar 19. Eur J Hum Genet. 2019. PMID: 30890781 Free PMC article. Review.
Predictive genetic testing for Motor neuron disease: time for a guideline?
McNeill A, Amador MD, Bekker H, Clarke A, Crook A, Cummings C, McEwen A, McDermott C, Quarrell O, Renieri A, Roggenbuck J, Salmon K, Volk A, Weishaupt J; International Alliance of ALS/MND Associations. McNeill A, et al. Eur J Hum Genet. 2022 Jun;30(6):635-636. doi: 10.1038/s41431-022-01093-y. Epub 2022 Apr 5. Eur J Hum Genet. 2022. PMID: 35379930 Free PMC article. No abstract available.
Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.
Carrieri D, Howard HC, Benjamin C, Clarke AJ, Dheensa S, Doheny S, Hawkins N, Halbersma-Konings TF, Jackson L, Kayserili H, Kelly SE, Lucassen AM, Mendes Á, Rial-Sebbag E, Stefánsdóttir V, Turnpenny PD, van El CG, van Langen IM, Cornel MC, Forzano F; European Society of Human Genetics. Carrieri D, et al. Among authors: clarke aj. Eur J Hum Genet. 2019 Feb;27(2):169-182. doi: 10.1038/s41431-018-0285-1. Epub 2018 Oct 11. Eur J Hum Genet. 2019. PMID: 30310124 Free PMC article.
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.
de Wert G, Dondorp W, Clarke A, Dequeker EMC, Cordier C, Deans Z, van El CG, Fellmann F, Hastings R, Hentze S, Howard H, Macek M, Mendes A, Patch C, Rial-Sebbag E, Stefansdottir V, Cornel MC, Forzano F; European Society of Human Genetics. de Wert G, et al. Eur J Hum Genet. 2021 Mar;29(3):365-377. doi: 10.1038/s41431-020-00758-w. Epub 2020 Nov 22. Eur J Hum Genet. 2021. PMID: 33223530 Free PMC article.
305 results