Catalina Betancur

Summary

Country: France

Publications

  1. pmc SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
    Catalina Betancur
    INSERM U952, Paris, France
    Mol Autism 4:17. 2013
  2. pmc Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features
    Joseph D Buxbaum
    Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Mol Autism 3:1. 2012
  3. pmc A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region
    L Alison McInnes
    Seaver Autism Center for Research and Treatment, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Autism 1:5. 2010
  4. doi Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
    Catalina Betancur
    INSERM, U952, Universite Pierre et Marie Curie, Paris, France
    Brain Res 1380:42-77. 2011
  5. doi Heterozygous FA2H mutations in autism spectrum disorders
    Isabelle Scheid
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    BMC Med Genet 14:124. 2013
  6. doi Analysis of X chromosome inactivation in autism spectrum disorders
    Xiaohong Gong
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    Am J Med Genet B Neuropsychiatr Genet 147:830-5. 2008
  7. pmc Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
    Claire S Leblond
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    PLoS Genet 8:e1002521. 2012
  8. pmc Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls
    Richard Delorme
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    BMC Med Genet 11:108. 2010
  9. pmc Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother
    Anne Claude Tabet
    AP HP, Robert Debre Hospital, Department of Genetics, Cytogenetics Unit, Paris, France
    Eur J Hum Genet 20:540-6. 2012
  10. pmc Platelet serotonergic markers as endophenotypes for obsessive-compulsive disorder
    Richard Delorme
    INSERM U 513, Faculte de Medecine, Creteil, France
    Neuropsychopharmacology 30:1539-47. 2005

Collaborators

Detail Information

Publications20

  1. pmc SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
    Catalina Betancur
    INSERM U952, Paris, France
    Mol Autism 4:17. 2013
    ....
  2. pmc Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features
    Joseph D Buxbaum
    Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Mol Autism 3:1. 2012
    ..abstract:..
  3. pmc A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region
    L Alison McInnes
    Seaver Autism Center for Research and Treatment, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Autism 1:5. 2010
    ..In this study we surveyed two ASD cohorts for 15q24 abnormalities to assess the frequency of genomic imbalances in this interval...
  4. doi Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
    Catalina Betancur
    INSERM, U952, Universite Pierre et Marie Curie, Paris, France
    Brain Res 1380:42-77. 2011
    ..Finally, the data provide strong support for high-resolution DNA microarrays as well as whole-exome and whole-genome sequencing as critical approaches for identifying the genetic causes of ASDs...
  5. doi Heterozygous FA2H mutations in autism spectrum disorders
    Isabelle Scheid
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    BMC Med Genet 14:124. 2013
    ..We hypothesized that rare deleterious heterozygous mutations of FA2H might constitute risk factors for ASD...
  6. doi Analysis of X chromosome inactivation in autism spectrum disorders
    Xiaohong Gong
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    Am J Med Genet B Neuropsychiatr Genet 147:830-5. 2008
    ..We propose that the XCI profile could be a useful criteria to prioritize families for mutation screening of X-linked candidate genes...
  7. pmc Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
    Claire S Leblond
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    PLoS Genet 8:e1002521. 2012
    ..A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD...
  8. pmc Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls
    Richard Delorme
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    BMC Med Genet 11:108. 2010
    ..Previous genetic and functional studies explored the role of NOS1AP in these psychiatric conditions, but only a limited number explored the sequence variability of NOS1AP...
  9. pmc Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother
    Anne Claude Tabet
    AP HP, Robert Debre Hospital, Department of Genetics, Cytogenetics Unit, Paris, France
    Eur J Hum Genet 20:540-6. 2012
    ..We discuss the clinical and genetic implications of two different 16p chromosomal rearrangements in this family, and suggest that the 16p11.2 deletion in the father predisposed to the formation of the duplication in his twin children...
  10. pmc Platelet serotonergic markers as endophenotypes for obsessive-compulsive disorder
    Richard Delorme
    INSERM U 513, Faculte de Medecine, Creteil, France
    Neuropsychopharmacology 30:1539-47. 2005
    ..These alterations may serve as endophenotypic markers in OCD, and could contribute to the study of the biological mechanisms and genetic underpinnings of the disorder...
  11. pmc Shared executive dysfunctions in unaffected relatives of patients with autism and obsessive-compulsive disorder
    Richard Delorme
    INSERM U513, Neurobiologie et Psychiatrie, Universite Paris XII, Creteil, France
    Eur Psychiatry 22:32-8. 2007
    ....
  12. pmc Exploratory analysis of obsessive compulsive symptom dimensions in children and adolescents: a prospective follow-up study
    Richard Delorme
    INSERM U513, Faculte de Medecine, Universite Paris XII, Creteil, France
    BMC Psychiatry 6:1. 2006
    ..Although a phenotypic continuum from childhood to adulthood has been hypothesized, no factor analytic studies have been performed in juvenile patients, and the stability of OC dimensions in children and adolescents has not been assessed...
  13. ncbi No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and control subjects
    Richard Delorme
    Human Genetics and Cognitive Functions, Pasteur Institute, Paris, France
    Biol Psychiatry 60:202-3. 2006
    ..1.4% in control subjects)...
  14. pmc High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters
    Pauline Chaste
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    Mol Autism 3:5. 2012
    ..abstract:..
  15. pmc Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
    Richard Delorme
    INSERM, U955, Institut Mondor de Recherche Biomedicale, PsychiatricGenetics, Creteil, France
    BMC Med Genet 11:100. 2010
    ..Therefore, the aim of this study was to search for microrearrangements in these two regions in OCD patients...
  16. pmc An investigation of ribosomal protein L10 gene in autism spectrum disorders
    Xiaohong Gong
    Human Genetics and Cognitive Functions, CNRS URA 2182 Genes, Synapses and Cognition, Institut Pasteur, Paris, France
    BMC Med Genet 10:7. 2009
    ..To confirm these initial findings, we re-sequenced RPL10 exons and quantified mRNA transcript level of RPL10 in our samples...
  17. ncbi The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders
    Catalina Betancur
    INSERM U, Universite Pierre et Marie Curie, Paris, France
    Trends Neurosci 32:402-12. 2009
    ....
  18. pmc Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
    Christelle M Durand
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    Nat Genet 39:25-7. 2007
    ..These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders...
  19. ncbi Loss of VGLUT1 and VGLUT2 in the prefrontal cortex is correlated with cognitive decline in Alzheimer disease
    Alireza Kashani
    INSERM, U513, 94000 Creteil, France
    Neurobiol Aging 29:1619-30. 2008
    ..Our results suggest that VGLUT1 expression in the prefrontal cortex could be used as a valuable neurochemical marker of dementia in AD...
  20. ncbi Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders
    Christel Depienne
    INSERM U679, AP HP, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Biol Psychiatry 66:349-59. 2009
    ..However, the prevalence of these disorders in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13 rearrangements in a large sample of patients ascertained for ASD...