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91 results

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Page 1
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D'Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. Trost B, et al. Among authors: vorstman jas. Cell. 2022 Nov 10;185(23):4409-4427.e18. doi: 10.1016/j.cell.2022.10.009. Cell. 2022. PMID: 36368308 Free PMC article.
22q11.2 deletion syndrome.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. McDonald-McGinn DM, et al. Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Nat Rev Dis Primers. 2015. PMID: 27189754 Free PMC article. Review.
Contemplating syndromic autism.
Vorstman JAS, Scherer SW. Vorstman JAS, et al. Genet Med. 2023 Oct;25(10):100919. doi: 10.1016/j.gim.2023.100919. Epub 2023 Jun 15. Genet Med. 2023. PMID: 37330697 Free article. No abstract available.
From Genes to Therapy in Autism Spectrum Disorder.
Vorstman JAS, Freitag CM, Persico AM. Vorstman JAS, et al. Genes (Basel). 2022 Aug 1;13(8):1377. doi: 10.3390/genes13081377. Genes (Basel). 2022. PMID: 36011288 Free PMC article.
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.
Neurobiological perspective of 22q11.2 deletion syndrome.
Zinkstok JR, Boot E, Bassett AS, Hiroi N, Butcher NJ, Vingerhoets C, Vorstman JAS, van Amelsvoort TAMJ. Zinkstok JR, et al. Among authors: vorstman jas. Lancet Psychiatry. 2019 Nov;6(11):951-960. doi: 10.1016/S2215-0366(19)30076-8. Epub 2019 Aug 5. Lancet Psychiatry. 2019. PMID: 31395526 Free PMC article. Review.
Double hits in schizophrenia.
Vorstman JAS, Olde Loohuis LM; GROUP Investigators; Kahn RS, Ophoff RA; GROUP investigators. Vorstman JAS, et al. Hum Mol Genet. 2018 Aug 1;27(15):2755-2761. doi: 10.1093/hmg/ddy175. Hum Mol Genet. 2018. PMID: 29767709 Free PMC article.
Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology.
Silva AI, Sønderby IE, Kirov G, Abdellaoui A, Agartz I, Ames D, Armstrong NJ, Artiges E, Banaschewski T, Bassett AS, Bearden CE, Blangero J, Boen R, Boomsma DI, Bülow R, Butcher NJ, Calhoun V, Campbell LE, Chow EWC, Ciufolini S, Craig MC, Crespo-Farroco B, Cunningham AC, Dalvie S, Daly E, Dazzan P, de Geus EJC, de Zubicaray GI, Doherty JL, Donohoe G, Drakesmith M, Espeseth T, Frouin V, Garavan H, Glahn DC, Goodrich-Hunsaker NJ, Gowland PA, Grabe HJ, Grigis A, Gudbrandsen M, Gutman BA, Haavik J, Håberg AK, Hall J, Heinz A, Hohmann S, Hottenga JJ, Jacquemont S, Jahanshad N, Jonas RK, Jones DK, Jönsson EG, Koops S, Kumar K, Le Hellard S, Lemaitre H, Liu J, Lundervold AJ, Martinot JL, Mather KA, McDonald-McGinn DM, McMahon KL, McRae AF, Medland SE, Moreau CA, Murphy KC, Murphy D, Murray RM, Nees F, Owen MJ, Paillère Martinot ML, Orfanos DP, Paus T, Poustka L, Marques TR, Roalf DR, Sachdev PS, Scheffler F, Schmitt JE, Schumann G, Steen VM, Stein DJ, Strike LT, Teumer A, Thalamuthu A, Thomopoulos SI, Tordesillas-Gutiérrez D, Trollor JN, Uhlmann A, Vajdi A, van 't Ent D, van Amelsvoort T, van den Bree MBM, van der Meer D, Vázquez-Bourgon J, Villalón-Reina JE, Völker U, Völzke H, Vorst… See abstract for full author list ➔ Silva AI, et al. Among authors: vorstman jas. Biol Psychiatry Cogn Neurosci Neuroimaging. 2025 May 23:S2451-9022(25)00169-7. doi: 10.1016/j.bpsc.2025.05.010. Online ahead of print. Biol Psychiatry Cogn Neurosci Neuroimaging. 2025. PMID: 40414598 Free article.
91 results