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Increased paternal age and the influence on burden of genomic copy number variation in the general population.
Buizer-Voskamp JE, Blauw HM, Boks MP, van Eijk KR, Veldink JH, Hennekam EA, Vorstman JA, Mulder F, Tiemeier H, Uitterlinden AG, Kiemeney LA, van den Berg LH, Kahn RS, Sabatti C, Ophoff RA. Buizer-Voskamp JE, et al. Among authors: vorstman ja. Hum Genet. 2013 Apr;132(4):443-50. doi: 10.1007/s00439-012-1261-4. Epub 2013 Jan 13. Hum Genet. 2013. PMID: 23315237 Clinical Trial.
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Chan AJS, Engchuan W, Reuter MS, Wang Z, Thiruvahindrapuram B, Trost B, Nalpathamkalam T, Negrijn C, Lamoureux S, Pellecchia G, Patel RV, Sung WWL, MacDonald JR, Howe JL, Vorstman J, Sondheimer N, Takahashi N, Miles JH, Anagnostou E, Tammimies K, Zarrei M, Merico D, Stavropoulos DJ, Yuen RKC, Fernandez BA, Scherer SW. Chan AJS, et al. Nat Commun. 2022 Oct 29;13(1):6463. doi: 10.1038/s41467-022-34112-z. Nat Commun. 2022. PMID: 36309498 Free PMC article.
Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia.
Lin JR, Zhao Y, Jabalameli MR, Nguyen N, Mitra J; International 22q11.DS Brain and Behavior Consortium; Swillen A, Vorstman JAS, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Owen MJ, Williams NM, Bassett AS, McDonald-McGinn DM, Gur RE, Bearden CE, Morrow BE, Lachman HM, Zhang ZD. Lin JR, et al. Among authors: vorstman jas. Mol Psychiatry. 2023 May;28(5):2071-2080. doi: 10.1038/s41380-023-02009-y. Epub 2023 Mar 3. Mol Psychiatry. 2023. PMID: 36869225
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
Zhao Y, Wang Y, Shi L, McDonald-McGinn DM, Crowley TB, McGinn DE, Tran OT, Miller D, Lin JR, Zackai E, Johnston HR, Chow EWC, Vorstman JAS, Vingerhoets C, van Amelsvoort T, Gothelf D, Swillen A, Breckpot J, Vermeesch JR, Eliez S, Schneider M, van den Bree MBM, Owen MJ, Kates WR, Repetto GM, Shashi V, Schoch K, Bearden CE, Digilio MC, Unolt M, Putotto C, Marino B, Pontillo M, Armando M, Vicari S, Angkustsiri K, Campbell L, Busa T, Heine-Suñer D, Murphy KC, Murphy D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium (IBBC); Zhang ZD, Goldmuntz E, Gur RE, Emanuel BS, Zheng D, Marshall CR, Bassett AS, Wang T, Morrow BE. Zhao Y, et al. Among authors: vorstman jas. NPJ Genom Med. 2023 Jul 18;8(1):17. doi: 10.1038/s41525-023-00363-y. NPJ Genom Med. 2023. PMID: 37463940 Free PMC article.
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.
Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia.
Hoogendoorn ML, Vorstman JA, Jalali GR, Selten JP, Sinke RJ, Emanuel BS, Kahn RS. Hoogendoorn ML, et al. Among authors: vorstman ja. Schizophr Res. 2008 Jan;98(1-3):84-8. doi: 10.1016/j.schres.2007.09.025. Epub 2007 Oct 26. Schizophr Res. 2008. PMID: 17964762 Free PMC article.
120 results