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A double hit implicates DIAPH3 as an autism risk gene.
Vorstman JA, van Daalen E, Jalali GR, Schmidt ER, Pasterkamp RJ, de Jonge M, Hennekam EA, Janson E, Staal WG, van der Zwaag B, Burbach JP, Kahn RS, Emanuel BS, van Engeland H, Ophoff RA. Vorstman JA, et al. Mol Psychiatry. 2011 Apr;16(4):442-51. doi: 10.1038/mp.2010.26. Epub 2010 Mar 23. Mol Psychiatry. 2011. PMID: 20308993 Free PMC article.
Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications.
Gur R, Bearden C, Jacquemont S, Jizi K, Amelsvoort van T, van den Bree M, Vorstman J, Sebat J, Ruparel K, Gallagher R, Swillen A, McClellan E, White L, Crowley T, Giunta V, Kushan L, O'Hora K, Verbesselt J, Vandensande A, Vingerhoets C, van Haelst M, Hall J, Harwood J, Chawner S, Patel N, Palad K, Hong O, Guevara J, Martin CO, Bélanger AM, Scherer S, Bassett A, McDonald-McGinn D, Gur R. Gur R, et al. Res Sq [Preprint]. 2023 Dec 29:rs.3.rs-3393845. doi: 10.21203/rs.3.rs-3393845/v1. Res Sq. 2023. Update in: Mol Psychiatry. 2024 Jul 24. doi: 10.1038/s41380-024-02661-y PMID: 38234766 Free PMC article. Updated. Preprint.
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Óskarsdóttir S, et al. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729053 Free article. Review.
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
AlMail A, Jamjoom A, Pan A, Feng MY, Chau V, D'Gama AM, Howell K, Liang NSY, McTague A, Poduri A, Wiltrout K; IPCHiP Executive Committee; Bassett AS, Christodoulou J, Dupuis L, Gill P, Levy T, Siper P, Stark Z, Vorstman JAS, Diskin C, Jewitt N, Baribeau D, Costain G. AlMail A, et al. Among authors: vorstman jas. NPJ Genom Med. 2024 Apr 6;9(1):27. doi: 10.1038/s41525-024-00408-w. NPJ Genom Med. 2024. PMID: 38582909 Free PMC article.
Psychopathology in 22q11 deletion syndrome.
Vorstman JAS, Morcus MEJ, van Engeland H. Vorstman JAS, et al. J Am Acad Child Adolesc Psychiatry. 2007 Aug;46(8):942-944. doi: 10.1097/chi.0b013e318068fc0e. J Am Acad Child Adolesc Psychiatry. 2007. PMID: 17667472 No abstract available.
126 results