Catalina Betancur
Catalina Betancur
INSERM U1130, CNRS UMR 8246, Sorbonne Université
Email verificata su
TitoloCitata daAnno
Functional impact of global rare copy number variation in autism spectrum disorders
D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ...
Nature 466 (7304), 368, 2010
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
S Jamain, H Quach, C Betancur, M Råstam, C Colineaux, IC Gillberg, ...
Nature Genetics 34 (1), 27-29, 2003
Patterns and rates of exonic de novo mutations in autism spectrum disorders
BM Neale, Y Kou, L Liu, A Ma’Ayan, KE Samocha, A Sabo, CF Lin, ...
Nature 485 (7397), 242, 2012
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
P Szatmari, AD Paterson, L Zwaigenbaum, W Roberts, J Brian, XQ Liu, ...
Nature Genetics 39 (3), 319-328, 2007
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
CM Durand, C Betancur, TM Boeckers, J Bockmann, P Chaste, ...
Nature Genetics 39 (1), 25-27, 2007
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
SH Lee, S Ripke, BM Neale, SV Faraone, SM Purcell, RH Perlis, ...
Nature Genetics 45 (9), 984-994, 2013
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
C Betancur
Brain Research 1380, 42-77, 2011
A genome-wide linkage and association scan reveals novel loci for autism
LA Weiss, DE Arking, ...
Nature 461 (7265), 802, 2009
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
D Pinto, E Delaby, D Merico, M Barbosa, A Merikangas, L Klei, ...
The American Journal of Human Genetics 94 (5), 677-694, 2014
A genome-wide scan for common alleles affecting risk for autism
R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ...
Human Molecular Genetics 19 (20), 4072-4082, 2010
Abnormal melatonin synthesis in autism spectrum disorders
J Melke, HG Botros, P Chaste, C Betancur, G Nygren, H Anckarsäter, ...
Molecular Psychiatry 13 (1), 90-98, 2008
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
CS Leblond, J Heinrich, R Delorme, C Proepper, C Betancur, G Huguet, ...
PLoS Genetics 8 (2), e1002521, 2012
Linkage and association of the glutamate receptor 6 gene with autism
S Jamain, C Betancur, H Quach, A Philippe, M Fellous, B Giros, C Gillberg, ...
Molecular Psychiatry 7 (3), 302-310, 2002
Analysis of shared heritability in common disorders of the brain
V Anttila, B Bulik-Sullivan, HK Finucane, RK Walters, J Bras, L Duncan, ...
Science 360 (6395), eaap8757, 2018
Individual common variants exert weak effects on risk for autism spectrum disorders
R Anney, L Klei, D Pinto, J Almeida, E Bacchelli, G Baird, N Bolshakova, ...
Human Molecular Genetics 21 (21), 4781-4792, 2012
Meta-analysis of SHANK mutations in autism spectrum disorders: a gradient of severity in cognitive Impairments
CS Leblond, C Nava, A Polge, J Gauthier, G Huguet, S Lumbroso, ...
PLoS Genetics 10 (9), e1004580, 2014
The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders
C Betancur, T Sakurai, JD Buxbaum
Trends in Neurosciences 32 (7), 402-412, 2009
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
JD Buxbaum, G Cai, P Chaste, G Nygren, J Goldsmith, J Reichert, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144 …, 2007
Behavioural disturbances associated with hyperdopaminergia in dopamine-transporter knockout mice
C Spielewoy, C Roubert, M Hamon, M Nosten, C Betancur, B Giros
Behavioural Pharmacology 11 (3-4), 279, 2000
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
The Network and Pathway Analysis Subgroup of the Psychiatric Genomics Consortium
Nature Neuroscience 18 (2), 199-209, 2015
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