|
|
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.
Journal articles
inserm-01535717v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-01211157v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-01181008v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01541309v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01548830v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-01061498v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders.
Dalila Pinto
,
Elsa Delaby
,
Daniele Merico
,
Mafalda Barbosa
,
Alison Merikangas
,
et al.
Journal articles
inserm-00986225v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-01009668v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Heterozygous FA2H mutations in autism spectrum disorders.
Isabelle Scheid
,
Anna Maruani
,
Guillaume Huguet
,
Claire Leblond
,
Gudrun Nygren
,
et al.
Journal articles
inserm-00918083v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-00864642v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-00843238v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-00834559v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders.
Catalina Betancur
,
Joseph D Buxbaum
Journal articles
inserm-00839363v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Characterization of SLITRK1 Variation in Obsessive-Compulsive Disorder.
Uzoezi Ozomaro
,
Guiqing Cai
,
Yuji Kajiwara
,
Seungtai Yoon
,
Vladimir Makarov
,
et al.
Journal articles
inserm-00871302v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-00723650v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-00733073v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-00939274v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-00661857v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01548905v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-00672942v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-00834560v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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 articles
inserm-03135308v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-03135307v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|