305 related articles for article (PubMed ID: 23044707)
1. Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.
Moreno-De-Luca D; Sanders SJ; Willsey AJ; Mulle JG; Lowe JK; Geschwind DH; State MW; Martin CL; Ledbetter DH
Mol Psychiatry; 2013 Oct; 18(10):1090-5. PubMed ID: 23044707
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 23341896
[TBL] [Abstract][Full Text] [Related]
3. 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; Kim SJ
Autism Res; 2014 Jun; 7(3):355-62. PubMed ID: 24821083
[TBL] [Abstract][Full Text] [Related]
4. Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Girirajan S; Dennis MY; Baker C; Malig M; Coe BP; Campbell CD; Mark K; Vu TH; Alkan C; Cheng Z; Biesecker LG; Bernier R; Eichler EE
Am J Hum Genet; 2013 Feb; 92(2):221-37. PubMed ID: 23375656
[TBL] [Abstract][Full Text] [Related]
5. Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome.
Douard E; Zeribi A; Schramm C; Tamer P; Loum MA; Nowak S; Saci Z; Lord MP; Rodríguez-Herreros B; Jean-Louis M; Moreau C; Loth E; Schumann G; Pausova Z; Elsabbagh M; Almasy L; Glahn DC; Bourgeron T; Labbe A; Paus T; Mottron L; Greenwood CMT; Huguet G; Jacquemont S
Am J Psychiatry; 2021 Jan; 178(1):87-98. PubMed ID: 32911998
[TBL] [Abstract][Full Text] [Related]
6. Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Leppa VM; Kravitz SN; Martin CL; Andrieux J; Le Caignec C; Martin-Coignard D; DyBuncio C; Sanders SJ; Lowe JK; Cantor RM; Geschwind DH
Am J Hum Genet; 2016 Sep; 99(3):540-554. PubMed ID: 27569545
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 22016809
[TBL] [Abstract][Full Text] [Related]
8. Ohnologs are overrepresented in pathogenic copy number mutations.
McLysaght A; Makino T; Grayton HM; Tropeano M; Mitchell KJ; Vassos E; Collier DA
Proc Natl Acad Sci U S A; 2014 Jan; 111(1):361-6. PubMed ID: 24368850
[TBL] [Abstract][Full Text] [Related]
9. Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.
Noh HJ; Ponting CP; Boulding HC; Meader S; Betancur C; Buxbaum JD; Pinto D; Marshall CR; Lionel AC; Scherer SW; Webber C
PLoS Genet; 2013 Jun; 9(6):e1003523. PubMed ID: 23754953
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 19755429
[TBL] [Abstract][Full Text] [Related]
11. Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.
Glessner JT; Li J; Wang D; March M; Lima L; Desai A; Hadley D; Kao C; Gur RE; Cohen N; Sleiman PMA; Li Q; Hakonarson H;
Genome Med; 2017 Nov; 9(1):106. PubMed ID: 29191242
[TBL] [Abstract][Full Text] [Related]
12. Prioritization of Copy Number Variation Loci Associated with Autism from AutDB-An Integrative Multi-Study Genetic Database.
Menashe I; Larsen EC; Banerjee-Basu S
PLoS One; 2013; 8(6):e66707. PubMed ID: 23825557
[TBL] [Abstract][Full Text] [Related]
13. Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting.
Barone R; Gulisano M; Amore R; Domini C; Milana MC; Giglio S; Madia F; Mattina T; Casabona A; Fichera M; Rizzo R
Int J Dev Neurosci; 2020 Jun; 80(4):276-286. PubMed ID: 32159884
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 23275889
[TBL] [Abstract][Full Text] [Related]
15. Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.
da Silva Montenegro EM; Costa CS; Campos G; Scliar M; de Almeida TF; Zachi EC; Silva IMW; Chan AJS; Zarrei M; Lourenço NCV; Yamamoto GL; Scherer S; Passos-Bueno MR
Autism Res; 2020 Feb; 13(2):199-206. PubMed ID: 31696658
[TBL] [Abstract][Full Text] [Related]
16. High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
AlAyadhi LY; Hashmi JA; Iqbal M; Albalawi AM; Samman MI; Elamin NE; Bashir S; Basit S
Neuroscience; 2016 Dec; 339():561-570. PubMed ID: 27771533
[TBL] [Abstract][Full Text] [Related]
17. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Guilmatre A; Dubourg C; Mosca AL; Legallic S; Goldenberg A; Drouin-Garraud V; Layet V; Rosier A; Briault S; Bonnet-Brilhault F; Laumonnier F; Odent S; Le Vacon G; Joly-Helas G; David V; Bendavid C; Pinoit JM; Henry C; Impallomeni C; Germano E; Tortorella G; Di Rosa G; Barthelemy C; Andres C; Faivre L; Frébourg T; Saugier Veber P; Campion D
Arch Gen Psychiatry; 2009 Sep; 66(9):947-56. PubMed ID: 19736351
[TBL] [Abstract][Full Text] [Related]
18. Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.
Williams NM; Franke B; Mick E; Anney RJ; Freitag CM; Gill M; Thapar A; O'Donovan MC; Owen MJ; Holmans P; Kent L; Middleton F; Zhang-James Y; Liu L; Meyer J; Nguyen TT; Romanos J; Romanos M; Seitz C; Renner TJ; Walitza S; Warnke A; Palmason H; Buitelaar J; Rommelse N; Vasquez AA; Hawi Z; Langley K; Sergeant J; Steinhausen HC; Roeyers H; Biederman J; Zaharieva I; Hakonarson H; Elia J; Lionel AC; Crosbie J; Marshall CR; Schachar R; Scherer SW; Todorov A; Smalley SL; Loo S; Nelson S; Shtir C; Asherson P; Reif A; Lesch KP; Faraone SV
Am J Psychiatry; 2012 Feb; 169(2):195-204. PubMed ID: 22420048
[TBL] [Abstract][Full Text] [Related]
19. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.
Mefford HC; Cooper GM; Zerr T; Smith JD; Baker C; Shafer N; Thorland EC; Skinner C; Schwartz CE; Nickerson DA; Eichler EE
Genome Res; 2009 Sep; 19(9):1579-85. PubMed ID: 19506092
[TBL] [Abstract][Full Text] [Related]
20. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Jacquemont S; Coe BP; Hersch M; Duyzend MH; Krumm N; Bergmann S; Beckmann JS; Rosenfeld JA; Eichler EE
Am J Hum Genet; 2014 Mar; 94(3):415-25. PubMed ID: 24581740
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
