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Catalina Betancur

Catalina Betancur

D-Index & Metrics

Genetics

D-Index
62
Citations
33018
World Ranking
2936
National Ranking
143

Overview

Catalina Betancur is affiliated with Sorbonne University in France and has contributed extensively to research in biochemistry, genetics, and molecular biology, particularly focusing on neuroscience. Their scholarly work encompasses genetics, cognitive neuroscience, cellular and molecular neuroscience, molecular biology, as well as pediatrics, perinatology, and child health.

The main topics their research covers include:

  • Genomic variations and chromosomal abnormalities
  • Autism Spectrum Disorder Research
  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Neuroscience and Neuropharmacology Research
  • Congenital heart defects research
  • Prenatal Screening and Diagnostics

Catalina Betancur has published in several scientific venues, with frequent publications appearing in:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Cell
  • Nature Genetics
  • Nature Reviews Genetics
  • Journal of Neurodevelopmental Disorders

They have collaborated extensively with a number of co-authors, including:

  • Joseph D. Buxbaum
  • Alexander Kolevzon
  • Edwin H. Cook
  • Audrey Thurm
  • Carole Gruszczynski

Among their recent publications are:

  • "Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism" (2020, Cell)
  • "Rare coding variation provides insight into the genetic architecture and phenotypic context of autism" (2022, Nature Genetics)
  • "A framework for an evidence-based gene list relevant to autism spectrum disorder" (2020, Nature Reviews Genetics)
  • "Psychiatric illness and regression in individuals with Phelan-McDermid syndrome" (2020, Journal of Neurodevelopmental Disorders)
  • "Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium" (2021, Human Molecular Genetics)

Best Publications

  • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

    S. Hong Lee;Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Stephen V. Faraone

  • Functional impact of global rare copy number variation in autism spectrum disorders

    Dalila Pinto;Alistair T. Pagnamenta;Lambertus Klei;Richard Anney

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S. Breen

  • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

    Stéphane Jamain;Hélène Quach;Catalina Betancur;Maria Råstam

  • Patterns and rates of exonic de novo mutations in autism spectrum disorders

    Benjamin M. Neale;Yan Kou;Li Liu;Avi Ma'Ayan

  • Analysis of shared heritability in common disorders of the brain

    Verneri Anttila;Verneri Anttila;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K. Finucane;Raymond K. Walters;Raymond K. Walters

  • Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

    Christelle M Durand;Catalina Betancur;Tobias M Boeckers;Juergen Bockmann

  • Mapping autism risk loci using genetic linkage and chromosomal rearrangements

    Peter Szatmari;Andrew D. Paterson;Lonnie Zwaigenbaum;Wendy Roberts

  • Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

    Dalila Pinto;Elsa Delaby;Elsa Delaby;Elsa Delaby;Daniele Merico;Mafalda Barbosa

  • Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

    Catalina Betancur;Catalina Betancur

  • A genome-wide linkage and association scan reveals novel loci for autism

    Lauren A. Weiss;Lauren A. Weiss;Dan E. Arking;Mark J. Daly;Mark J. Daly;Aravinda Chakravarti

  • 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

    Richard J.L. Anney;Richard J.L. Anney;Stephan Ripke;Stephan Ripke;Stephan Ripke;Verneri Anttila;Jakob Grove;Jakob Grove

  • Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

    Colm O'Dushlaine;Lizzy Rossin;Phil H. Lee;Laramie Duncan;Laramie Duncan

  • A genome-wide scan for common alleles affecting risk for autism

    Richard Anney;Lambertus Klei;Dalila Pinto;Regina Regan

  • 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

  • Abnormal melatonin synthesis in autism spectrum disorders

    J Melke;H Goubran Botros;P Chaste;C Betancur

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S Breen;Michael S Breen

  • 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

  • Individual common variants exert weak effects on the risk for autism spectrum disorders.

    Richard Anney;Lambertus Klei;Dalila Pinto;Dalila Pinto;Joana Almeida

  • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

    Dalila Pinto;Elsa Delaby;Daniele Merico;Mafalda Barbosa

Frequent Co-Authors

Marion Leboyer
Marion Leboyer Paris-Est Créteil University
Christopher Gillberg
Christopher Gillberg University of Gothenburg
Thomas Bourgeron
Thomas Bourgeron Université Paris Cité
Joseph D. Buxbaum
Joseph D. Buxbaum Icahn School of Medicine at Mount Sinai
Stephen W. Scherer
Stephen W. Scherer University of Toronto
Edwin H. Cook
Edwin H. Cook University of Illinois at Chicago
Peter Szatmari
Peter Szatmari University of Toronto
Maria Råstam
Maria Råstam Lund University
Daniel H. Geschwind
Daniel H. Geschwind University of California, Los Angeles
Anthony P. Monaco
Anthony P. Monaco Tufts University

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