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Behavioral signatures related to genetic disorders in autism.

Bruining H, Eijkemans MJ, Kas MJ, Curran SR, Vorstman JA, Bolton PF.

Mol Autism. 2014 Feb 11;5(1):11. doi: 10.1186/2040-2392-5-11.


Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes.

Bruining H, de Sonneville L, Swaab H, de Jonge M, Kas M, van Engeland H, Vorstman J.

PLoS One. 2010 May 28;5(5):e10887. doi: 10.1371/journal.pone.0010887.


The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.


Evidence for contribution of common genetic variants within chromosome 8p21.2-8p21.1 to restricted and repetitive behaviors in autism spectrum disorders.

Tao Y, Gao H, Ackerman B, Guo W, Saffen D, Shugart YY.

BMC Genomics. 2016 Mar 1;17:163. doi: 10.1186/s12864-016-2475-y.


22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.

Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT.

Mol Autism. 2016 May 6;7:27. doi: 10.1186/s13229-016-0090-z. eCollection 2016. Erratum in: Mol Autism. 2016;7:34.


An ontology for Autism Spectrum Disorder (ASD) to infer ASD phenotypes from Autism Diagnostic Interview-Revised data.

Mugzach O, Peleg M, Bagley SC, Guter SJ, Cook EH, Altman RB.

J Biomed Inform. 2015 Aug;56:333-47. doi: 10.1016/j.jbi.2015.06.026. Epub 2015 Jul 4.


Predicting Autism Spectrum Disorder Using Blood-based Gene Expression Signatures and Machine Learning.

Oh DH, Kim IB, Kim SH, Ahn DH.

Clin Psychopharmacol Neurosci. 2017 Feb 28;15(1):47-52. doi: 10.9758/cpn.2017.15.1.47.


Gender differences in autism spectrum disorders: Divergence among specific core symptoms.

Beggiato A, Peyre H, Maruani A, Scheid I, Rastam M, Amsellem F, Gillberg CI, Leboyer M, Bourgeron T, Gillberg C, Delorme R.

Autism Res. 2017 Apr;10(4):680-689. doi: 10.1002/aur.1715. Epub 2016 Nov 3.


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.


Autism spectrum disorders: the quest for genetic syndromes.

Zafeiriou DI, Ververi A, Dafoulis V, Kalyva E, Vargiami E.

Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):327-66. doi: 10.1002/ajmg.b.32152. Epub 2013 May 3. Review.


Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis.

Richards C, Jones C, Groves L, Moss J, Oliver C.

Lancet Psychiatry. 2015 Oct;2(10):909-16. doi: 10.1016/S2215-0366(15)00376-4. Epub 2015 Sep 1. Review.


Predicting the diagnosis of autism spectrum disorder using gene pathway analysis.

Skafidas E, Testa R, Zantomio D, Chana G, Everall IP, Pantelis C.

Mol Psychiatry. 2014 Apr;19(4):504-10. doi: 10.1038/mp.2012.126. Epub 2012 Sep 11.


Autism spectrum disorder in Prader-Willi syndrome: A systematic review.

Bennett JA, Germani T, Haqq AM, Zwaigenbaum L.

Am J Med Genet A. 2015 Dec;167A(12):2936-44. doi: 10.1002/ajmg.a.37286. Epub 2015 Aug 29. Review.


Use of machine learning to improve autism screening and diagnostic instruments: effectiveness, efficiency, and multi-instrument fusion.

Bone D, Bishop SL, Black MP, Goodwin MS, Lord C, Narayanan SS.

J Child Psychol Psychiatry. 2016 Aug;57(8):927-37. doi: 10.1111/jcpp.12559. Epub 2016 Apr 19.


Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.

Milner KM, Craig EE, Thompson RJ, Veltman MW, Thomas NS, Roberts S, Bellamy M, Curran SR, Sporikou CM, Bolton PF.

J Child Psychol Psychiatry. 2005 Oct;46(10):1089-96.


Genetically meaningful phenotypic subgroups in autism spectrum disorders.

Veatch OJ, Veenstra-Vanderweele J, Potter M, Pericak-Vance MA, Haines JL.

Genes Brain Behav. 2014 Mar;13(3):276-85. doi: 10.1111/gbb.12117. Epub 2014 Jan 27.


The effect of epilepsy on autistic symptom severity assessed by the social responsiveness scale in children with autism spectrum disorder.

Ko C, Kim N, Kim E, Song DH, Cheon KA.

Behav Brain Funct. 2016 Jun 27;12(1):20. doi: 10.1186/s12993-016-0105-0.


Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.

Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE.

Orphanet J Rare Dis. 2015 Aug 27;10:105. doi: 10.1186/s13023-015-0323-9.


The effect of gender on the neuroanatomy of children with autism spectrum disorders: a support vector machine case-control study.

Retico A, Giuliano A, Tancredi R, Cosenza A, Apicella F, Narzisi A, Biagi L, Tosetti M, Muratori F, Calderoni S.

Mol Autism. 2016 Jan 19;7:5. doi: 10.1186/s13229-015-0067-3. eCollection 2016.

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