Catalina Betancur
Researcher Next ID · RN-022180
Researcher · Neuroscience
Centre National de la Recherche Scientifique
Paris, Colombia
- Works count
- 152
- Citation count
- 29,639
- H-index
- 58
- i10-index
- 114
Research interests
Publications
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Nature Genetics · 2022 · https://doi.org/10.1038/s41588-022-01104-0
Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder
The American Journal of Human Genetics · 2015 · https://doi.org/10.1016/j.ajhg.2014.12.006
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
PLoS Genetics · 2014 · https://doi.org/10.1371/journal.pgen.1004580
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency
Molecular Autism · 2013 · https://doi.org/10.1186/2040-2392-4-18
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Nature · 2012 · https://doi.org/10.1038/nature11011
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
PLoS Genetics · 2012 · https://doi.org/10.1371/journal.pgen.1002521
Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
Brain Research · 2010 · https://doi.org/10.1016/j.brainres.2010.11.078
The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders
Trends in Neurosciences · 2009 · https://doi.org/10.1016/j.tins.2009.04.003
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Nature Genetics · 2007 · https://doi.org/10.1038/ng1985
Abnormal melatonin synthesis in autism spectrum disorders
Molecular Psychiatry · 2007 · https://doi.org/10.1038/sj.mp.4002016
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Nature Genetics · 2006 · https://doi.org/10.1038/ng1933
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Nature Genetics · 2003 · https://doi.org/10.1038/ng1136
Linkage and association of the glutamate receptor 6 gene with autism
Molecular Psychiatry · 2002 · https://doi.org/10.1038/sj.mp.4000979
Current projects
No projects listed.