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Items: 1 to 20 of 144

1.

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.

Egger G, Roetzer KM, Noor A, Lionel AC, Mahmood H, Schwarzbraun T, Boright O, Mikhailov A, Marshall CR, Windpassinger C, Petek E, Scherer SW, Kaschnitz W, Vincent JB.

Neurogenetics. 2014 May;15(2):117-27. doi: 10.1007/s10048-014-0394-0. Epub 2014 Mar 19.

PMID:
24643514
2.

A discovery resource of rare copy number variations in individuals with autism spectrum disorder.

Prasad A, Merico D, Thiruvahindrapuram B, Wei J, Lionel AC, Sato D, Rickaby J, Lu C, Szatmari P, Roberts W, Fernandez BA, Marshall CR, Hatchwell E, Eis PS, Scherer SW.

G3 (Bethesda). 2012 Dec;2(12):1665-85. doi: 10.1534/g3.112.004689. Epub 2012 Dec 1.

3.

Genetic architecture in autism spectrum disorder.

Devlin B, Scherer SW.

Curr Opin Genet Dev. 2012 Jun;22(3):229-37. doi: 10.1016/j.gde.2012.03.002. Epub 2012 Mar 29. Review.

PMID:
22463983
4.

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.

Salyakina D, Cukier HN, Lee JM, Sacharow S, Nations LD, Ma D, Jaworski JM, Konidari I, Whitehead PL, Wright HH, Abramson RK, Williams SM, Menon R, Haines JL, Gilbert JR, Cuccaro ML, Pericak-Vance MA.

PLoS One. 2011;6(10):e26049. doi: 10.1371/journal.pone.0026049. Epub 2011 Oct 7.

5.

Transmission disequilibrium of small CNVs in simplex autism.

Krumm N, O'Roak BJ, Karakoc E, Mohajeri K, Nelson B, Vives L, Jacquemont S, Munson J, Bernier R, Eichler EE.

Am J Hum Genet. 2013 Oct 3;93(4):595-606. doi: 10.1016/j.ajhg.2013.07.024. Epub 2013 Sep 12.

6.

[Autism spectrum disorder and genes for synaptic proteins].

Shishido E.

Brain Nerve. 2012 Jan;64(1):65-70. Review. Japanese.

PMID:
22223503
7.

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.

Griswold AJ, Ma D, Cukier HN, Nations LD, Schmidt MA, Chung RH, Jaworski JM, Salyakina D, Konidari I, Whitehead PL, Wright HH, Abramson RK, Williams SM, Menon R, Martin ER, Haines JL, Gilbert JR, Cuccaro ML, Pericak-Vance MA.

Hum Mol Genet. 2012 Aug 1;21(15):3513-23. doi: 10.1093/hmg/dds164. Epub 2012 Apr 27.

8.

Functional impact of global rare copy number variation in autism spectrum disorders.

Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C.

Nature. 2010 Jul 15;466(7304):368-72. doi: 10.1038/nature09146. Epub 2010 Jun 9.

9.

Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.

Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Martin CL, Devlin B, Beaudet AL, Cook EH Jr, Kim SJ.

Autism Res. 2014 Jun;7(3):355-62. doi: 10.1002/aur.1378. Epub 2014 May 12.

PMID:
24821083
10.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolton PF, Bourgeron T, Brennan S, Cali P, Correia C, Corsello C, Coutanche M, Dawson G, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Foley S, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Green J, Guter SJ, Hakonarson H, Holt R, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Lamb JA, Leboyer M, Le Couteur A, Leventhal BL, Lord C, Lund SC, Maestrini E, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Miller J, Minopoli F, Mirza GK, Munson J, Nelson SF, Nygren G, Oliveira G, Pagnamenta AT, Papanikolaou K, Parr JR, Parrini B, Pickles A, Pinto D, Piven J, Posey DJ, Poustka A, Poustka F, Ragoussis J, Roge B, Rutter ML, Sequeira AF, Soorya L, Sousa I, Sykes N, Stoppioni V, Tancredi R, Tauber M, Thompson AP, Thomson S, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wang K, Wassink TH, White K, Wing K, Wittemeyer K, Yaspan BL, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Geschwind DH, Haines JL, Hallmayer J, Monaco AP, Nurnberger JI Jr, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vieland VJ, Wijsman EM, Green A, Gill M, Gallagher L, Vicente A, Ennis S.

Hum Genet. 2012 Apr;131(4):565-79. doi: 10.1007/s00439-011-1094-6. Epub 2011 Oct 14.

11.

Copy number variation in Han Chinese individuals with autism spectrum disorder.

Gazzellone MJ, Zhou X, Lionel AC, Uddin M, Thiruvahindrapuram B, Liang S, Sun C, Wang J, Zou M, Tammimies K, Walker S, Selvanayagam T, Wei J, Wang Z, Wu L, Scherer SW.

J Neurodev Disord. 2014;6(1):34. doi: 10.1186/1866-1955-6-34. Epub 2014 Aug 23.

12.

Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.

Matsunami N, Hadley D, Hensel CH, Christensen GB, Kim C, Frackelton E, Thomas K, da Silva RP, Stevens J, Baird L, Otterud B, Ho K, Varvil T, Leppert T, Lambert CG, Leppert M, Hakonarson H.

PLoS One. 2013;8(1):e52239. doi: 10.1371/journal.pone.0052239. Epub 2013 Jan 14.

13.

Copy number variation findings among 50 children and adolescents with autism spectrum disorder.

Sorte HS, Gjevik E, Sponheim E, Eiklid KL, Rødningen OK.

Psychiatr Genet. 2013 Apr;23(2):61-9. doi: 10.1097/YPG.0b013e32835d718b.

PMID:
23277134
14.

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

Lionel AC, Crosbie J, Barbosa N, Goodale T, Thiruvahindrapuram B, Rickaby J, Gazzellone M, Carson AR, Howe JL, Wang Z, Wei J, Stewart AF, Roberts R, McPherson R, Fiebig A, Franke A, Schreiber S, Zwaigenbaum L, Fernandez BA, Roberts W, Arnold PD, Szatmari P, Marshall CR, Schachar R, Scherer SW.

Sci Transl Med. 2011 Aug 10;3(95):95ra75. doi: 10.1126/scitranslmed.3002464.

15.

The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies.

Steinberg J, Webber C.

Am J Hum Genet. 2013 Nov 7;93(5):825-39. doi: 10.1016/j.ajhg.2013.09.013. Epub 2013 Oct 24.

16.

Copy-number variation in the pathogenesis of autism spectrum disorder.

Shishido E, Aleksic B, Ozaki N.

Psychiatry Clin Neurosci. 2014 Feb;68(2):85-95. doi: 10.1111/pcn.12128. Epub 2013 Dec 29. Review.

17.

Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.

Vardarajan BN, Eran A, Jung JY, Kunkel LM, Wall DP.

Transl Psychiatry. 2013 May 28;3:e262. doi: 10.1038/tp.2013.38.

18.

The genetic landscapes of autism spectrum disorders.

Huguet G, Ey E, Bourgeron T.

Annu Rev Genomics Hum Genet. 2013;14:191-213. doi: 10.1146/annurev-genom-091212-153431. Epub 2013 Jul 22. Review.

PMID:
23875794
19.

[Analysis of de novo copy number variations in a family affected with autism spectrum disorders using high-resolution array-based comparative genomic hybridization].

He WZ, Liu WQ, Zhong XQ, Chen XL, Li SY, Zhang HM, Li Q, Cui QL, Sun XF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Jun;29(3):266-9. doi: 10.3760/cma.j.issn.1003-9406.2012.03.004. Chinese.

PMID:
22678785
20.

Detection and characterization of copy number variation in autism spectrum disorder.

Marshall CR, Scherer SW.

Methods Mol Biol. 2012;838:115-35. doi: 10.1007/978-1-61779-507-7_5. Review.

PMID:
22228009
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