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Schaaf-Yang syndrome overview: Report of 78 individuals.
McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP. McCarthy J, et al. Am J Med Genet A. 2018 Dec;176(12):2564-2574. doi: 10.1002/ajmg.a.40650. Epub 2018 Oct 10. Am J Med Genet A. 2018. PMID: 30302899 Free PMC article.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP. Fountain MD, et al. Among authors: mccarthy jm. Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25. Genet Med. 2019. PMID: 30679821 Free PMC article.
The Mental Health Bill (2025) for England and Wales: professional and carer consensus statement summarising concerns and unintended consequences from proposed changes to autism and learning disability.
Beazley P, Alexander RT, Taylor JL, Velani B, Dewson H, Shankar R, Tromans SJ, Odiyoor MM, Hassiotis A, Roy A, McKinnon I, Zia A, Strydom A, Keown P, Perera B, Khan M, McCarthy J, Butler M, Chester V, Fitton L, Chiu K, Bew A, Lane T, Gay T, Gay B. Beazley P, et al. Among authors: mccarthy j. Br J Psychiatry. 2025 Jul 1:1-6. doi: 10.1192/bjp.2025.10324. Online ahead of print. Br J Psychiatry. 2025. PMID: 40588856 Review.
Targeting ceramide synthases for the development of new antifungals.
Dasilva D, Pereira de Sa N, Takemura K, Jayanetti K, You JK, Vieira de Sa N, Matos GS, Zhong A, Senkal CE, Hannun Y, Ojima I, Mallamo J, McCarthy JB, Del Poeta M. Dasilva D, et al. Among authors: mccarthy jb. Structure. 2025 Jun 12:S0969-2126(25)00213-8. doi: 10.1016/j.str.2025.05.016. Online ahead of print. Structure. 2025. PMID: 40555233
3,495 results