Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 98

1.

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.

Mondal K, Ramachandran D, Patel VC, Hagen KR, Bose P, Cutler DJ, Zwick ME.

Hum Mol Genet. 2012 Oct 1;21(19):4356-64. doi: 10.1093/hmg/dds267. Epub 2012 Jul 5.

2.

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.

3.

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.

Sahoo T, Theisen A, Marble M, Tervo R, Rosenfeld JA, Torchia BS, Shaffer LG.

Am J Med Genet A. 2011 Dec;155A(12):3110-5. doi: 10.1002/ajmg.a.34345. Epub 2011 Nov 7.

PMID:
22065534
4.

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.

5.

Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).

Kantojärvi K, Kotala I, Rehnström K, Ylisaukko-Oja T, Vanhala R, von Wendt TN, von Wendt L, Järvelä I.

Autism Res. 2011 Jun;4(3):228-33. doi: 10.1002/aur.187. Epub 2011 Feb 22.

PMID:
21384559
6.

Autism spectrum disorder: FRAXE mutation, a rare etiology.

Correia F, Café C, Almeida J, Mouga S, Oliveira G.

J Autism Dev Disord. 2015 Mar;45(3):888-92. doi: 10.1007/s10803-014-2185-8.

PMID:
25035088
7.

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.

Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C.

Transl Psychiatry. 2012 Oct 23;2:e179. doi: 10.1038/tp.2012.102.

8.

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
9.

Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder.

Steinberg KM, Ramachandran D, Patel VC, Shetty AC, Cutler DJ, Zwick ME.

Mol Autism. 2012 Sep 28;3(1):8. doi: 10.1186/2040-2392-3-8.

10.

Neurogenetic analysis of childhood disintegrative disorder.

Gupta AR, Westphal A, Yang DYJ, Sullivan CAW, Eilbott J, Zaidi S, Voos A, Vander Wyk BC, Ventola P, Waqar Z, Fernandez TV, Ercan-Sencicek AG, Walker MF, Choi M, Schneider A, Hedderly T, Baird G, Friedman H, Cordeaux C, Ristow A, Shic F, Volkmar FR, Pelphrey KA.

Mol Autism. 2017 Apr 4;8:19. doi: 10.1186/s13229-017-0133-0. eCollection 2017.

11.

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C, Rupp J, Boissel JP, Mignot C, Rastetter A, Amiet C, Jacquette A, Dupuits C, Bouteiller D, Keren B, Ruberg M, Faudet A, Doummar D, Philippe A, Périsse D, Laurent C, Lebrun N, Guillemot V, Chelly J, Cohen D, Héron D, Brice A, Closs EI, Depienne C.

Amino Acids. 2015 Dec;47(12):2647-58. doi: 10.1007/s00726-015-2057-3. Epub 2015 Jul 28.

12.

SHANK1 Deletions in Males with Autism Spectrum Disorder.

Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, O'Connor I, Russell C, Drmic IE, Hamdan FF, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, Leboyer M, Rastam M, Gillberg C, Lathrop M, Stavropoulos DJ, Anagnostou E, Weksberg R, Fombonne E, Zwaigenbaum L, Fernandez BA, Roberts W, Rappold GA, Marshall CR, Bourgeron T, Szatmari P, Scherer SW.

Am J Hum Genet. 2012 May 4;90(5):879-87. doi: 10.1016/j.ajhg.2012.03.017. Epub 2012 Apr 12.

13.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH.

Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011.

14.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
15.

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM; NHLBI Exome Sequencing Project, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ.

Neuron. 2013 Jan 23;77(2):235-42. doi: 10.1016/j.neuron.2012.12.029.

16.

Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability.

Kou Y, Betancur C, Xu H, Buxbaum JD, Ma'ayan A.

Am J Med Genet C Semin Med Genet. 2012 May 15;160C(2):130-42. doi: 10.1002/ajmg.c.31330. Epub 2012 Apr 12.

17.

Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.

Stettner GM, Shoukier M, Höger C, Brockmann K, Auber B.

Am J Med Genet A. 2011 Aug;155A(8):2003-7. doi: 10.1002/ajmg.a.34122. Epub 2011 Jul 7.

PMID:
21739600
18.

2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.

Liu X, Malenfant P, Reesor C, Lee A, Hudson ML, Harvard C, Qiao Y, Persico AM, Cohen IL, Chudley AE, Forster-Gibson C, Rajcan-Separovic E, Lewis ME, Holden JJ.

Eur J Hum Genet. 2011 Dec;19(12):1264-70. doi: 10.1038/ejhg.2011.112. Epub 2011 Jul 13.

19.

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA.

Nat Genet. 2010 Jun;42(6):489-91. doi: 10.1038/ng.589. Epub 2010 May 16.

PMID:
20473310
20.

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T.

PLoS Genet. 2014 Sep 4;10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep.

Supplemental Content

Support Center