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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.
Davies RW, Fiksinski AM, Breetvelt EJ, Williams NM, Hooper SR, Monfeuga T, Bassett AS, Owen MJ, Gur RE, Morrow BE, McDonald-McGinn DM, Swillen A, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, van Amelsvoort T, Arango C, Armando M, Campbell LE, Cubells JF, Eliez S, Garcia-Minaur S, Gothelf D, Kates WR, Murphy KC, Murphy CM, Murphy DG, Philip N, Repetto GM, Shashi V, Simon TJ, Suñer DH, Vicari S, Scherer SW; International 22q11.2 Brain and Behavior Consortium; Bearden CE, Vorstman JAS. Davies RW, et al. Among authors: vorstman jas. Nat Med. 2020 Dec;26(12):1912-1918. doi: 10.1038/s41591-020-1103-1. Epub 2020 Nov 9. Nat Med. 2020. PMID: 33169016 Free PMC article.
Proline affects brain function in 22q11DS children with the low activity COMT 158 allele.
Vorstman JA, Turetsky BI, Sijmens-Morcus ME, de Sain MG, Dorland B, Sprong M, Rappaport EF, Beemer FA, Emanuel BS, Kahn RS, van Engeland H, Kemner C. Vorstman JA, et al. Neuropsychopharmacology. 2009 Feb;34(3):739-46. doi: 10.1038/npp.2008.132. Epub 2008 Sep 3. Neuropsychopharmacology. 2009. PMID: 18769474 Free PMC article.
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.
120 results