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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Fletcher RS, Cherik F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Pizzi S, Plomp AS, Poulton C, Reilly J, Relator R, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, St John M, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci T, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Kerrnohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Levy MA, et al. Among authors: morgan at. HGG Adv. 2021 Dec 3;3(1):100075. doi: 10.1016/j.xhgg.2021.100075. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047860 Free PMC article.
Characterization of speech and language phenotype in children with NRXN1 deletions.
Brignell A, St John M, Boys A, Bruce A, Dinale C, Pigdon L, Hildebrand MS, Amor DJ, Morgan AT. Brignell A, et al. Among authors: morgan at. Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):700-708. doi: 10.1002/ajmg.b.32664. Epub 2018 Oct 25. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 30358070
Speech and language in children with Klinefelter syndrome.
St John M, Ponchard C, van Reyk O, Mei C, Pigdon L, Amor DJ, Morgan AT. St John M, et al. Among authors: morgan at. J Commun Disord. 2019 Mar-Apr;78:84-96. doi: 10.1016/j.jcomdis.2019.02.003. Epub 2019 Feb 12. J Commun Disord. 2019. PMID: 30822601
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome.
Brignell A, Gu C, Holm A, Carrigg B, Sheppard DA, Amor DJ, Morgan AT. Brignell A, et al. Among authors: morgan at. Eur J Hum Genet. 2021 Apr;29(4):564-574. doi: 10.1038/s41431-020-00761-1. Epub 2020 Dec 8. Eur J Hum Genet. 2021. PMID: 33293697 Free PMC article.
Severe speech impairment is a distinguishing feature of FOXP1-related disorder.
Braden RO, Amor DJ, Fisher SE, Mei C, Myers CT, Mefford H, Gill D, Srivastava S, Swanson LC, Goel H, Scheffer IE, Morgan AT. Braden RO, et al. Among authors: morgan at. Dev Med Child Neurol. 2021 Dec;63(12):1417-1426. doi: 10.1111/dmcn.14955. Epub 2021 Jun 9. Dev Med Child Neurol. 2021. PMID: 34109629 Free article.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Rouxel F, Relator R, Kerkhof J, McConkey H, Levy M, Dias P, Barat-Houari M, Bednarek N, Boute O, Chatron N, Cherik F, Delahaye-Duriez A, Doco-Fenzy M, Faivre L, Gauthier LW, Heron D, Hildebrand MS, Lesca G, Lespinasse J, Mazel B, Menke LA, Morgan AT, Pinson L, Quelin C, Rossi M, Ruiz-Pallares N, Tran-Mau-Them F, Van Kessel IN, Vincent M, Weber M, Willems M, Leguyader G, Sadikovic B, Genevieve D. Rouxel F, et al. Among authors: morgan at. Genet Med. 2022 May;24(5):1096-1107. doi: 10.1016/j.gim.2021.12.016. Epub 2022 Jan 19. Genet Med. 2022. PMID: 35063350 Free article.
173 results