Catalina Betancur
Catalina Betancur
INSERM U1130, CNRS UMR 8246, Sorbonne Université
Email verificata su
Citata da
Citata da
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), 368-372, 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
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
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), 242-245, 2012
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
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
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
C Betancur
Brain Research 1380, 42-77, 2011
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 linkage and association scan reveals novel loci for autism
LA Weiss, DE Arking
Nature 461 (7265), 802-808, 2009
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
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
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
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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