Search - Genetics of Autism Access content directly

Filter your results

33 Results
Image document

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

The Autism Spectrum Disorders Working Group Of The Psychiatric Genomics Consortium , Richard J L Anney , Stephan Ripke , Verneri Anttila , Jakob Grove , et al.
Molecular Autism, 2017, 8, pp.21. ⟨10.1186/s13229-017-0137-9⟩
Journal articles inserm-01535717v1
Image document

Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism

Marion Pilorge , Coralie Fassier , Hervé Le Corronc , Anaïs Potey , Jing Bai , et al.
Molecular Psychiatry, 2016, 21 (7), pp.936-945 ⟨10.1038/mp.2015.139⟩
Journal articles inserm-01211157v1
Image document

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

Anne-Claire Richard , Anne Rovelet-Lecrux , Elsa Delaby , Camille Charbonnier , Bhooma Thiruvahindrapuram , et al.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2016, 171B (3), pp.377-82. ⟨10.1002/ajmg.b.32416⟩
Journal articles inserm-01289348v1
Image document

Synaptic disorders

Catalina Betancur , Kevin J Mitchell
Kevin J. Mitchell. The Genetics of Neurodevelopmental Disorders, Wiley Blackwell, pp.195-238, 2015, 978-1-118-52488-6
Book sections inserm-01181037v1
Image document

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Anne-Claude Tabet , Alain Verloes , Marion Pilorge , Elsa Delaby , Richard Delorme , et al.
Molecular Autism, 2015, 6 (1), pp.19. ⟨10.1186/s13229-015-0015-2⟩
Journal articles inserm-01181008v1

Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder

Robert Maier , Gerhard Moser , Guo-Bo Chen , Stephan Ripke , Cross-Disorder Working Group of The Psychiatric Genomics Consortium , et al.
American Journal of Human Genetics, 2015, 96 (2), pp.283-294. ⟨10.1016/j.ajhg.2014.12.006⟩
Journal articles hal-01541309v1

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

C. O'Dushlaine , L. Rossin , H. Lee P. , L. Duncan , N. Parikshak N. , et al.
Nature Neuroscience, 2015, 18 (2), pp.199-209. ⟨10.1038/nn.3922⟩
Journal articles hal-01548830v1
Image document

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.

Claire S. Leblond , Caroline Nava , Anne Polge , Julie Gauthier , Guillaume Huguet , et al.
PLoS Genetics, 2014, 10 (9), pp.e1004580. ⟨10.1371/journal.pgen.1004580⟩
Journal articles inserm-01061498v1
Image document

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders.

Dalila Pinto , Elsa Delaby , Daniele Merico , Mafalda Barbosa , Alison Merikangas , et al.
American Journal of Human Genetics, 2014, 94 (5), pp.677-694. ⟨10.1016/j.ajhg.2014.03.018⟩
Journal articles inserm-00986225v1
Image document

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.

Dexter Hadley , Zhi Liang Wu , Charlly Kao , Akshata Kini , Alisha Mohamed-Hadley , et al.
Nature Communications, 2014, 5, pp.4074. ⟨10.1038/ncomms5074⟩
Journal articles inserm-01009668v1
Image document

Heterozygous FA2H mutations in autism spectrum disorders.

Isabelle Scheid , Anna Maruani , Guillaume Huguet , Claire Leblond , Gudrun Nygren , et al.
BMC Medical Genetics, 2013, 14 (1), pp.124. ⟨10.1186/1471-2350-14-124⟩
Journal articles inserm-00918083v1
Image document

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Hong S. Lee , Stephan Ripke , Benjamin M. Neale , Stephen V. Faraone , Shaun M. Purcell , et al.
Nature Genetics, 2013, 45 (9), pp.984-994. ⟨10.1038/ng.2711⟩
Journal articles inserm-00864642v1
Image document

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.

Latha Soorya , Alexander Kolevzon , Jessica Zweifach , Teresa Lim , Yuriy Dobry , et al.
Molecular Autism, 2013, 4 (1), pp.18. ⟨10.1186/2040-2392-4-18⟩
Journal articles inserm-00843238v1
Image document

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.

Hyun Ji Noh , Chris P. Ponting , Hannah C. Boulding , Stephen Meader , Catalina Betancur , et al.
PLoS Genetics, 2013, 9 (6), pp.e1003523. ⟨10.1371/journal.pgen.1003523⟩
Journal articles inserm-00834559v1
Image document

SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders.

Catalina Betancur , Joseph D Buxbaum
Molecular Autism, 2013, 4 (1), pp.17. ⟨10.1186/2040-2392-4-17⟩
Journal articles inserm-00839363v1
Image document

Etiological heterogeneity in autism spectrum disorders: role of rare variants

Catalina Betancur , Mary Coleman
Joseph D. Buxbaum, Patrick R. Hof. The Neuroscience of Autism Spectrum Disorders, Academic Press, pp.113-144, 2013
Book sections inserm-00968357v1
Image document

Characterization of SLITRK1 Variation in Obsessive-Compulsive Disorder.

Uzoezi Ozomaro , Guiqing Cai , Yuji Kajiwara , Seungtai Yoon , Vladimir Makarov , et al.
PLoS ONE, 2013, 8 (8), pp.e70376. ⟨10.1371/journal.pone.0070376⟩
Journal articles inserm-00871302v1
Image document

No evidence that common genetic risk variation is shared between schizophrenia and autism

Jacob A. S. Vorstman , Richard J. L. Anney , Eske M. Derks , Louise Gallagher , Michael Gill , et al.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2013, 162 (1), pp.55-60. ⟨10.1002/ajmg.b.32121⟩
Journal articles istex hal-01541310v1
Image document

Individual common variants exert weak effects on the risk for autism spectrum disorders.

Richard Anney , Lambertus Klei , Dalila Pinto , Joana Almeida , Elena Bacchelli , et al.
Human Molecular Genetics, 2012, 21 (21), pp.4781-92. ⟨10.1093/hmg/dds301⟩
Journal articles inserm-00723650v1
Image document

High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters.

Pauline Chaste , Catalina Betancur , Marion Gérard-Blanluet , Anne Bargiacchi , Suzanne Kuzbari , et al.
Molecular Autism, 2012, 3 (1), pp.5. ⟨10.1186/2040-2392-3-5⟩
Journal articles inserm-00733073v1
Image document

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

Patrícia B. S. Celestino-Soper , Sara Violante , Emily L. Crawford , Rui Luo , Anath C. Lionel , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012, 109 (21), pp.7974-7981. ⟨10.1073/pnas.1120210109⟩
Journal articles inserm-00696112v1
Image document

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

Yan Kou , Catalina Betancur , Huilei Xu , Joseph D. Buxbaum , Avi Ma'Ayan
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2012, 160C (2), pp.130-42. ⟨10.1002/ajmg.c.31330⟩
Journal articles inserm-00688142v1
Image document

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Benjamin M. Neale , Yan Kou , Li Liu , Avi Ma'Ayan , Kaitlin E Samocha , et al.
Nature, 2012, 485 (7397), pp.242-5. ⟨10.1038/nature11011⟩
Journal articles inserm-00939274v1
Image document

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.

Anne-Claude Tabet , Marion Pilorge , Richard Delorme , Frédérique Amsellem , Jean-Marc Pinard , et al.
European Journal of Human Genetics, 2012, 20 (5), pp.540-6. ⟨10.1038/ejhg.2011.244⟩
Journal articles inserm-00661857v1
Image document

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

Jillian P Casey , Tiago Magalhaes , Judith Conroy , Regina Regan , Naisha Shah , et al.
Human Genetics, 2012, 131 (4), pp.565-79. ⟨10.1007/s00439-011-1094-6⟩
Journal articles hal-01548905v1

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for non-dysmorphic autism

Patricia B. S. Celestino-Soper , Sara Violante , Emily L. Crawford , Rui Luo , Anath C. Lionel , et al.
35th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD), Mar 2012, Charlotte, United States. pp.308-309
Conference papers hal-01541312v1
Image document

Optimizing the phenotyping of rodent ASD models: Enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features.

Joseph D. Buxbaum , Catalina Betancur , Ozlem Bozdagi , Nate P. Dorr , Gregory A. Elder , et al.
Molecular Autism, 2012, 3 (1), pp.1. ⟨10.1186/2040-2392-3-1⟩
Journal articles inserm-00672942v1
Image document

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Claire S. Leblond , Jutta Heinrich , Richard Delorme , Christian Proepper , Catalina Betancur , et al.
PLoS Genetics, 2012, 8 (2), pp.e1002521. ⟨10.1371/journal.pgen.1002521⟩
Journal articles inserm-00834560v1
Image document

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

Veronica Vieland , Joachim Hallmayer , Yungui Huang , Alistair Pagnamenta , Dalila Pinto , et al.
Journal of Neurodevelopmental Disorders, 2011, 3 (2), pp.113-123. ⟨10.1007/s11689-011-9072-9⟩
Journal articles inserm-03135308v1

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Abdul Noor , Annabel Whibley , Christian Marshall , Peter Gianakopoulos , Amelie Piton , et al.
Science Translational Medicine, 2010, 2 (49), pp.49ra68-49ra68. ⟨10.1126/scitranslmed.3001267⟩
Journal articles inserm-03135307v1