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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L, van der Smagt J, Walden KK, Banka S, Mannens M, Skinner SA, Friez MJ, Campbell C, Tedder ML, Alders M, Sadikovic B. Kerkhof J, et al. Among authors: hilton ba. Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18. Genet Med. 2024. PMID: 38251460
Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome.
Wang J, Lichty A, Johnson J, Couick C, Moore MA, Christensen B, Howard K, Lee JA, DuPont BR, Clarkson L, Hilton BA. Wang J, et al. Among authors: hilton ba. Chromosome Res. 2023 Jan 19;31(1):1. doi: 10.1007/s10577-023-09712-0. Chromosome Res. 2023. PMID: 36656404 No abstract available.
Atypia detected during breast screening and subsequent development of cancer: observational analysis of the Sloane atypia prospective cohort in England.
Freeman K, Jenkinson D, Clements K, Wallis MG, Pinder SE, Provenzano E, Stobart H, Stallard N, Kearins O, Sharma N, Shaaban A, Kirwan CC, Hilton B, Thompson AM, Taylor-Phillips S; Sloane Project Steering Group. Freeman K, et al. Among authors: hilton b. BMJ. 2024 Feb 1;384:e077039. doi: 10.1136/bmj-2023-077039. BMJ. 2024. PMID: 38302129 Free PMC article.
Evidence-informed recommendations on managing breast screening atypia: perspectives from an expert panel consensus meeting reviewing results from the Sloane atypia project.
Freeman K, Mansbridge A, Stobart H, Clements K, Wallis MG, Pinder SE, Kearins O, Shaaban AM, Kirwan CC, Wilkinson LS, Webb S, O'Sullivan E, Jenkins J, Wright S, Taylor K, Bailey C, Holcombe C, Wyld L, Edwards K, Jenkinson DJ, Sharma N, Provenzano E, Hilton B, Stallard N, Thompson AM, Taylor-Phillips S. Freeman K, et al. Among authors: hilton b. Br J Radiol. 2024 Feb 2;97(1154):324-330. doi: 10.1093/bjr/tqad053. Br J Radiol. 2024. PMID: 38265306 Free article.
209 results