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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3.
Genet Med. 2020.
PMID: 31578471
Free PMC article.
DNA methylation episignature in Gabriele-de Vries syndrome.
Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D.
Cherik F, et al.
Genet Med. 2022 Apr;24(4):905-914. doi: 10.1016/j.gim.2021.12.003. Epub 2022 Jan 10.
Genet Med. 2022.
PMID: 35027293
Free article.
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CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.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: cherik f.
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.
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Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.
Cherik F, Lepage M, Remerand G, Francannet C, Delabaere A, Salaun G, Pebrel-Richard C, Gouas L, Vago P, Tchirkov A, Goumy C.
Cherik F, et al.
Eur J Med Genet. 2021 Sep;64(9):104287. doi: 10.1016/j.ejmg.2021.104287. Epub 2021 Jul 9.
Eur J Med Genet. 2021.
PMID: 34252586
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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: cherik f.
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.
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