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Page 1
Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.
Breen MS, Fan X, Levy T, Pollak RM, Collins B, Osman A, Tocheva AS, Sahin M, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Kolevzon A, Buxbaum JD; Developmental Synaptopathies Consortium. Breen MS, et al. Among authors: buxbaum jd. HGG Adv. 2022 Sep 26;4(1):100145. doi: 10.1016/j.xhgg.2022.100145. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36276299 Free PMC article.
Familial symptom domains in monozygotic siblings with autism.
Kolevzon A, Smith CJ, Schmeidler J, Buxbaum JD, Silverman JM. Kolevzon A, et al. Among authors: buxbaum jd. Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15;129B(1):76-81. doi: 10.1002/ajmg.b.30011. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 15274045
Complex autism spectrum disorder in a patient with a 17q12 microduplication.
Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L. Brandt T, et al. Among authors: buxbaum jd. Am J Med Genet A. 2012 May;158A(5):1170-7. doi: 10.1002/ajmg.a.35267. Epub 2012 Apr 4. Am J Med Genet A. 2012. PMID: 22488896
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, Frank Y, Wang AT, Cai G, Parkhomenko E, Halpern D, Grodberg D, Angarita B, Willner JP, Yang A, Canitano R, Chaplin W, Betancur C, Buxbaum JD. Soorya L, et al. Among authors: buxbaum jd. Mol Autism. 2013 Jun 11;4(1):18. doi: 10.1186/2040-2392-4-18. Mol Autism. 2013. PMID: 23758760 Free PMC article.
De novo SCN2A splice site mutation in a boy with Autism spectrum disorder.
Tavassoli T, Kolevzon A, Wang AT, Curchack-Lichtin J, Halpern D, Schwartz L, Soffes S, Bush L, Grodberg D, Cai G, Buxbaum JD. Tavassoli T, et al. Among authors: buxbaum jd. BMC Med Genet. 2014 Mar 20;15:35. doi: 10.1186/1471-2350-15-35. BMC Med Genet. 2014. PMID: 24650168 Free PMC article.
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS… See abstract for full author list ➔ Pinto D, et al. Among authors: buxbaum jd. Am J Hum Genet. 2014 May 1;94(5):677-94. doi: 10.1016/j.ajhg.2014.03.018. Epub 2014 Apr 24. Am J Hum Genet. 2014. PMID: 24768552 Free PMC article.
489 results