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Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies.
Liao C, Moyses-Oliveira M, De Esch CEF, Bhavsar R, Nuttle X, Li A, Yu A, Burt ND, Erdin S, Fu JM, Wang M, Morley T, Han L; CommonMind Consortium; Dion PA, Rouleau GA, Zhang B, Brennand KJ, Talkowski ME, Ruderfer DM. Liao C, et al. Among authors: talkowski me. Cell Genom. 2023 Mar 9;3(4):100277. doi: 10.1016/j.xgen.2023.100277. eCollection 2023 Apr 12. Cell Genom. 2023. PMID: 37082147 Free PMC article.
Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samples.
Talkowski ME, Seltman H, Bassett AS, Brzustowicz LM, Chen X, Chowdari KV, Collier DA, Cordeiro Q, Corvin AP, Deshpande SN, Egan MF, Gill M, Kendler KS, Kirov G, Heston LL, Levitt P, Lewis DA, Li T, Mirnics K, Morris DW, Norton N, O'Donovan MC, Owen MJ, Richard C, Semwal P, Sobell JL, St Clair D, Straub RE, Thelma BK, Vallada H, Weinberger DR, Williams NM, Wood J, Zhang F, Devlin B, Nimgaonkar VL. Talkowski ME, et al. Biol Psychiatry. 2006 Jul 15;60(2):152-62. doi: 10.1016/j.biopsych.2006.02.015. Epub 2006 Apr 21. Biol Psychiatry. 2006. PMID: 16631129 Free PMC article. Review.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG. Lamb AN, et al. Among authors: talkowski me. Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037. Hum Mutat. 2012. PMID: 22290657 Free PMC article.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW. Lionel AC, et al. Among authors: talkowski me. Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30. Hum Mol Genet. 2014. PMID: 24381304 Free PMC article.
Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing.
Macera MJ, Sobrino A, Levy B, Jobanputra V, Aggarwal V, Mills A, Esteves C, Hanscom C, Pereira S, Pillalamarri V, Ordulu Z, Morton CC, Talkowski M, Warburton D. Macera MJ, et al. Prenat Diagn. 2015 Mar;35(3):299-301. doi: 10.1002/pd.4456. Epub 2015 Feb 4. Prenat Diagn. 2015. PMID: 25043231 Free PMC article. No abstract available.
Consanguinity associated with increased risk for bipolar I disorder in Egypt.
Mansour H, Klei L, Wood J, Talkowski M, Chowdari K, Fathi W, Eissa A, Yassin A, Salah H, Tobar S, El-Boraie H, Gaafar H, Elassy M, Ibrahim NE, El-Bahaei W, Elsayed M, Shahda M, El Sheshtawy E, El-Boraie O, El-Chennawi F, Devlin B, Nimgaonkar VL. Mansour H, et al. Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):879-85. doi: 10.1002/ajmg.b.30913. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19152378 Free PMC article.
184 results