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Items: 1 to 20 of 692

1.

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.

2.

The landscape of copy number variations in Finnish families with autism spectrum disorders.

Kanduri C, Kantojärvi K, Salo PM, Vanhala R, Buck G, Blancher C, Lähdesmäki H, Järvelä I.

Autism Res. 2016 Jan;9(1):9-16. doi: 10.1002/aur.1502.

PMID:
26052927
3.

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

Nava C, Keren B, Mignot C, Rastetter A, Chantot-Bastaraud S, Faudet A, Fonteneau E, Amiet C, Laurent C, Jacquette A, Whalen S, Afenjar A, Périsse D, Doummar D, Dorison N, Leboyer M, Siffroi JP, Cohen D, Brice A, Héron D, Depienne C.

Eur J Hum Genet. 2014 Jan;22(1):71-8. doi: 10.1038/ejhg.2013.88.

4.

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.

5.

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.

Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, Fernell E, Gillberg C, Nordgren A, Uppströmer A, Anderlid BM, Nordenskjöld M, Schoumans J.

Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):115-24. doi: 10.1002/ajmg.b.31142.

PMID:
21302340
6.

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
7.

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.

8.

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.

Roberts JL, Hovanes K, Dasouki M, Manzardo AM, Butler MG.

Gene. 2014 Feb 1;535(1):70-8. doi: 10.1016/j.gene.2013.10.020.

9.

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
10.

Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort.

Valsesia A, Stevenson BJ, Waterworth D, Mooser V, Vollenweider P, Waeber G, Jongeneel CV, Beckmann JS, Kutalik Z, Bergmann S.

BMC Genomics. 2012 Jun 15;13:241. doi: 10.1186/1471-2164-13-241.

11.

Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.

Yin CL, Chen HI, Li LH, Chien YL, Liao HM, Chou MC, Chou WJ, Tsai WC, Chiu YN, Wu YY, Lo CZ, Wu JY, Chen YT, Gau SS.

Mol Autism. 2016 Apr 1;7:23. doi: 10.1186/s13229-016-0087-7.

12.

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.

Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Cheung SW, Bacino C, Patel A.

Eur J Hum Genet. 2014 Jan;22(1):79-87. doi: 10.1038/ejhg.2013.77.

13.

[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
14.

Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.

Saadati HR, Wittig M, Helbig I, Häsler R, Anderson CA, Mathew CG, Kupcinskas L, Parkes M, Karlsen TH, Rosenstiel P, Schreiber S, Franke A.

BMC Med Genet. 2016 Apr 1;17:26. doi: 10.1186/s12881-016-0289-z.

15.

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.

PMID:
24643514
16.

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.

17.

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.

18.

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.

19.

Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.

van Daalen E, Kemner C, Verbeek NE, van der Zwaag B, Dijkhuizen T, Rump P, Houben R, van 't Slot R, de Jonge MV, Staal WG, Beemer FA, Vorstman JA, Burbach JP, van Amstel HK, Hochstenbach R, Brilstra EH, Poot M.

Neurogenetics. 2011 Nov;12(4):315-23. doi: 10.1007/s10048-011-0297-2.

20.

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.

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