Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 86

1.

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

Uddin M, Tammimies K, Pellecchia G, Alipanahi B, Hu P, Wang Z, Pinto D, Lau L, Nalpathamkalam T, Marshall CR, Blencowe BJ, Frey BJ, Merico D, Yuen RK, Scherer SW.

Nat Genet. 2014 Jul;46(7):742-7. doi: 10.1038/ng.2980. Epub 2014 May 25.

PMID:
24859339
2.

Increased burden of deleterious variants in essential genes in autism spectrum disorder.

Ji X, Kember RL, Brown CD, Bućan M.

Proc Natl Acad Sci U S A. 2016 Dec 27;113(52):15054-15059. doi: 10.1073/pnas.1613195113. Epub 2016 Dec 12.

3.

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.

Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30.

4.

Copy number and sequence variants implicate APBA2 as an autism candidate gene.

Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL.

Autism Res. 2009 Dec;2(6):359-64. doi: 10.1002/aur.107.

PMID:
20029827
5.

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE.

Nat Genet. 2011 Jun;43(6):585-9. doi: 10.1038/ng.835. Epub 2011 May 15. Erratum in: Nat Genet. 2012 Apr;44(4):471.

6.

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ.

Nature. 2012 Apr 4;485(7397):242-5. doi: 10.1038/nature11011.

7.

Genotype to phenotype relationships in autism spectrum disorders.

Chang J, Gilman SR, Chiang AH, Sanders SJ, Vitkup D.

Nat Neurosci. 2015 Feb;18(2):191-8. doi: 10.1038/nn.3907. Epub 2014 Dec 22.

8.

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, Wang G, Liang J, Wang Z, Cao D, Carter MT, Chrysler C, Drmic IE, Howe JL, Lau L, Marshall CR, Merico D, Nalpathamkalam T, Thiruvahindrapuram B, Thompson A, Uddin M, Walker S, Luo J, Anagnostou E, Zwaigenbaum L, Ring RH, Wang J, Lajonchere C, Wang J, Shih A, Szatmari P, Yang H, Dawson G, Li Y, Scherer SW.

Am J Hum Genet. 2013 Aug 8;93(2):249-63. doi: 10.1016/j.ajhg.2013.06.012. Epub 2013 Jul 11.

9.

A rare WNT1 missense variant overrepresented in ASD leads to increased Wnt signal pathway activation.

Martin PM, Yang X, Robin N, Lam E, Rabinowitz JS, Erdman CA, Quinn J, Weiss LA, Hamilton SP, Kwok PY, Moon RT, Cheyette BN.

Transl Psychiatry. 2013 Sep 3;3:e301. doi: 10.1038/tp.2013.75.

10.

Networks of neuronal genes affected by common and rare variants in autism spectrum disorders.

Ben-David E, Shifman S.

PLoS Genet. 2012;8(3):e1002556. doi: 10.1371/journal.pgen.1002556. Epub 2012 Mar 8.

11.

Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder.

Liu Y, Zhang Y, Zhao D, Dong R, Yang X, Tammimies K, Uddin M, Scherer SW, Gai Z.

Am J Med Genet B Neuropsychiatr Genet. 2015 Jun;168B(4):258-64. doi: 10.1002/ajmg.b.32306. Epub 2015 Apr 29.

PMID:
25921429
12.

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.

Krupp DR, Barnard RA, Duffourd Y, Evans SA, Mulqueen RM, Bernier R, Rivière JB, Fombonne E, O'Roak BJ.

Am J Hum Genet. 2017 Sep 7;101(3):369-390. doi: 10.1016/j.ajhg.2017.07.016. Epub 2017 Aug 31.

13.

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ; International Molecular Genetic Study of Autism Consortium (IMGSAC), Parr JR, Wilkie AO.

J Med Genet. 2014 Nov;51(11):737-47. doi: 10.1136/jmedgenet-2014-102582. Epub 2014 Sep 16.

14.

Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.

Liu Y, Du Y, Liu W, Yang C, Liu Y, Wang H, Gong X.

PLoS One. 2013;8(2):e56639. doi: 10.1371/journal.pone.0056639. Epub 2013 Feb 26.

15.

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium, Church GM, Scherer SW, Buxbaum JD, Walsh CA.

Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17.

16.

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.

BMC Med Genet. 2014 Mar 20;15:35. doi: 10.1186/1471-2350-15-35.

17.

Resequencing and association analysis of PTPRA, a possible susceptibility gene for schizophrenia and autism spectrum disorders.

Xing J, Wang C, Kimura H, Takasaki Y, Kunimoto S, Yoshimi A, Nakamura Y, Koide T, Banno M, Kushima I, Uno Y, Okada T, Aleksic B, Ikeda M, Iwata N, Ozaki N.

PLoS One. 2014 Nov 13;9(11):e112531. doi: 10.1371/journal.pone.0112531. eCollection 2014.

18.

A framework for the interpretation of de novo mutation in human disease.

Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, Palotie A, Boerwinkle E, Buxbaum JD, Cook EH Jr, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Neale BM, Daly MJ.

Nat Genet. 2014 Sep;46(9):944-50. doi: 10.1038/ng.3050. Epub 2014 Aug 3.

19.

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Möslein G, Schulmann K, Propping P, Friedl W.

Hum Mutat. 2004 Nov;24(5):370-80.

PMID:
15459959
20.

Whole-genome sequencing of quartet families with autism spectrum disorder.

Yuen RK, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, Chrysler C, Nalpathamkalam T, Pellecchia G, Liu Y, Gazzellone MJ, D'Abate L, Deneault E, Howe JL, Liu RS, Thompson A, Zarrei M, Uddin M, Marshall CR, Ring RH, Zwaigenbaum L, Ray PN, Weksberg R, Carter MT, Fernandez BA, Roberts W, Szatmari P, Scherer SW.

Nat Med. 2015 Feb;21(2):185-91. doi: 10.1038/nm.3792. Epub 2015 Jan 26.

PMID:
25621899

Supplemental Content

Support Center