Catalina Betancur

Centre National de la Recherche Scientifique — France

Neuroscience · Life Sciences

57h-index28.7kcitations150works4.72yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Autism Spectrum Disorder Research(67), Genetics and Neurodevelopmental Disorders(55), Genomic variations and chromosomal abnormalities(44), Congenital heart defects research(25), Neuropeptides and Animal Physiology(18)

Publications139 total

Astrocytes Control Cocaine-Induced Synaptic Plasticity and Reward Through the Matricellular Protein Hevin
Biological Psychiatry·2025· 7 citedOpen Access
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations
2025· 3 citedOpen Access
Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry
Molecular Autism·2024· 4 citedOpen Access
Characterization of cornea donors at a tissue center in the city of Medellin, Colombia
Cell and Tissue Banking·2023Open Access
Organic cation transporter 2 contributes to SSRI antidepressant efficacy by controlling tryptophan availability in the brain
Translational Psychiatry·2023· 7 citedOpen Access
Updated consensus guidelines on the management of Phelan–McDermid syndrome
American Journal of Medical Genetics Part A·2023· 43 citedOpen Access
Astrocytes control cocaine-induced synaptic plasticity and reward through the matricellular protein hevin
2023· 1 citedOpen Access
Organic cation transporter 2 contributes to SSRI antidepressant efficacy by controlling tryptophan availability in the brain
2023· 1 citedOpen Access
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Nature Genetics·2022· 564 citedOpen Access
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
Genetics in Medicine·2022· 22 citedOpen Access
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium
Human Molecular Genetics·2021· 63 citedOpen Access
Gene constraint and genotype–phenotype correlations in neurodevelopmental disorders
Current Opinion in Genetics & Development·2020· 17 citedOpen Access
A framework for an evidence-based gene list relevant to autism spectrum disorder
Nature Reviews Genetics·2020· 141 citedOpen Access
Psychiatric illness and regression in individuals with Phelan-McDermid syndrome
Journal of Neurodevelopmental Disorders·2020· 83 citedOpen Access
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Cell·2020· 2.3k citedOpen Access
Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature
Molecular Autism·2019· 83 citedOpen Access
Clinical and neurocognitive issues associated with Bosch‐Boonstra‐Schaaf optic atrophy syndrome: A case study
American Journal of Medical Genetics Part A·2019· 12 citedOpen Access
Recessive gene disruptions in autism spectrum disorder
Nature Genetics·2019· 172 citedOpen Access
Rigor in science and science reporting: updated guidelines for submissions to Molecular Autism
Molecular Autism·2019· 5 citedOpen Access
Viral vector‐mediated Cre recombinase expression in substantia nigra induces lesions of the nigrostriatal pathway associated with perturbations of dopamine‐related behaviors and hallmarks of programmed cell death
Journal of Neurochemistry·2019· 40 citedOpen Access
page 1 of 7Next →

Frequent Co-authors

Marion Leboyer(20), Joseph D. Buxbaum(19), Christopher Gillberg(17), Maria Råstam(11), Bruno Giros(11), Richard Delorme(11), Edwin H. Cook(9), Thomas Bourgeron(9), Gudrun Nygren(9), Hilary Coon(8), Alexander Kolevzon(8), Agatino Battaglia(7), Michael L. Cuccaro(7), Henrik Anckarsäter(7), Richard Anney(6), Géraldine Dawson(6), Eftichia Duketis(6), James S. Sutcliffe(6), I. Carina Gillberg(6), Pauline Chaste(6)