Raphael Bernier

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. ncbi request reprint Individuals with autism spectrum disorder show normal responses to a fear potential startle paradigm
    Raphael Bernier
    Center on Human Development and Disability, University of Washington, Seattle 98195, USA
    J Autism Dev Disord 35:575-83. 2005
  2. doi request reprint The role of imitation in the observed heterogeneity in EEG mu rhythm in autism and typical development
    Raphael Bernier
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, United States
    Brain Cogn 82:69-75. 2013
  3. pmc EEG mu rhythm and imitation impairments in individuals with autism spectrum disorder
    R Bernier
    Department of Psychology, University of Washington, Seattle, WA 98185, USA
    Brain Cogn 64:228-37. 2007
  4. doi request reprint Psychopathology, families, and culture: autism
    Raphael Bernier
    Department of Psychiatry and Behavioral Sciences, University of Washington, Box 357920, Seattle, WA 98195, USA
    Child Adolesc Psychiatr Clin N Am 19:855-67. 2010
  5. pmc Social attention: a possible early indicator of efficacy in autism clinical trials
    Geraldine Dawson
    Autism Speaks, New York, NY, USA
    J Neurodev Disord 4:11. 2012
  6. pmc Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    Brian J O'Roak
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA
    Nature 485:246-50. 2012
  7. pmc Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families
    Raphael Bernier
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA
    Autism Res 5:13-20. 2012
  8. doi request reprint The broader autism phenotype in simplex and multiplex families
    Jennifer A Gerdts
    Department of Psychiatry and Behavioral Sciences, CHDD, University of Washington, Autism Center, Box 357920, Seattle, WA 98195, USA
    J Autism Dev Disord 43:1597-605. 2013
  9. pmc Evidence for involvement of GNB1L in autism
    Ying Zhang Chen
    Department of Medicine Medical Genetics, University of Washington, Seattle, Washington 98195 7720, USA
    Am J Med Genet B Neuropsychiatr Genet 159:61-71. 2012
  10. pmc Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16
    Nicola H Chapman
    Department of Medicine, University of Washington, Seattle, WA, USA
    Hum Genet 129:59-70. 2011

Collaborators

Detail Information

Publications25

  1. ncbi request reprint Individuals with autism spectrum disorder show normal responses to a fear potential startle paradigm
    Raphael Bernier
    Center on Human Development and Disability, University of Washington, Seattle 98195, USA
    J Autism Dev Disord 35:575-83. 2005
    ..These results suggest that this aspect of amygdala function, namely fear conditioning and potentiation of the startle response, is intact in individuals with autism...
  2. doi request reprint The role of imitation in the observed heterogeneity in EEG mu rhythm in autism and typical development
    Raphael Bernier
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, United States
    Brain Cogn 82:69-75. 2013
    ....
  3. pmc EEG mu rhythm and imitation impairments in individuals with autism spectrum disorder
    R Bernier
    Department of Psychology, University of Washington, Seattle, WA 98185, USA
    Brain Cogn 64:228-37. 2007
    ..These findings suggest that there is execution/observation matching system dysfunction in individuals with autism and that this matching system is related to degree of impairment in imitation abilities...
  4. doi request reprint Psychopathology, families, and culture: autism
    Raphael Bernier
    Department of Psychiatry and Behavioral Sciences, University of Washington, Box 357920, Seattle, WA 98195, USA
    Child Adolesc Psychiatr Clin N Am 19:855-67. 2010
    ..In this article, cultural influences on the prevalence of autism and the diagnostic and treatment processes are reviewed and synthesized through a consideration of the developmental context and through clinical practice suggestions...
  5. pmc Social attention: a possible early indicator of efficacy in autism clinical trials
    Geraldine Dawson
    Autism Speaks, New York, NY, USA
    J Neurodev Disord 4:11. 2012
    ....
  6. pmc Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    Brian J O'Roak
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA
    Nature 485:246-50. 2012
    ..Combined with copy number variant (CNV) data, these results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics...
  7. pmc Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families
    Raphael Bernier
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA
    Autism Res 5:13-20. 2012
    ..Further, the results provide support for the notion that genetic transmission mechanisms may differ between families with more than one child with autism and families with only one child with autism...
  8. doi request reprint The broader autism phenotype in simplex and multiplex families
    Jennifer A Gerdts
    Department of Psychiatry and Behavioral Sciences, CHDD, University of Washington, Autism Center, Box 357920, Seattle, WA 98195, USA
    J Autism Dev Disord 43:1597-605. 2013
    ..The decreased number and intensity of broader autism phenotype traits observed in parents and siblings within simplex families provide behavioral evidence consistent with findings of increased de novo genetic events in simplex families...
  9. pmc Evidence for involvement of GNB1L in autism
    Ying Zhang Chen
    Department of Medicine Medical Genetics, University of Washington, Seattle, Washington 98195 7720, USA
    Am J Med Genet B Neuropsychiatr Genet 159:61-71. 2012
    ..Prior studies provided evidence that GNB1L may have a role in schizophrenia. Our findings support involvement of GNB1L in ASDs as well...
  10. pmc Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16
    Nicola H Chapman
    Department of Medicine, University of Washington, Seattle, WA, USA
    Hum Genet 129:59-70. 2011
    ..The location of the chromosome 16 signal suggests a candidate gene, CDH13, a T-cadherin expressed in the brain, which has been implicated in previous SNP studies of autism and ADHD...
  11. pmc Epigenetics of autism-related impairment: copy number variation and maternal infection
    Varvara Mazina
    University of Washington School of Medicine, Seattle, WA Departments of Psychiatry, and Genome Sciences, University of Washington, Seattle, WA Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA Howard Hughes Medical Institute, University of Washington, Seattle, WA
    J Dev Behav Pediatr 36:61-7. 2015
    ..The goal of this study was to explore the impact of ASD-associated copy number variants (CNVs) and prenatal maternal infection on clinical severity of ASD within a dataset of prenatal history and complete genetic and phenotypic findings...
  12. pmc Disruptive CHD8 mutations define a subtype of autism early in development
    Raphael Bernier
    Department of Psychiatry, University of Washington, Seattle, WA 98195, USA
    Cell 158:263-76. 2014
    ..Our findings indicate that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation...
  13. pmc Excess of rare, inherited truncating mutations in autism
    Niklas Krumm
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 47:582-8. 2015
    ..23 (P = 0.01), respectively. This analysis identifies a second class of candidate genes (for example, RIMS1, CUL7 and LZTR1) where transmitted mutations may create a sensitized background but are unlikely to be completely penetrant. ..
  14. pmc Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder
    Santhosh Girirajan
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 92:221-37. 2013
    ..The absence of an increased burden of smaller CNVs in individuals with autism and the failure of most large hotspots to refine to single genes is consistent with a model where imbalance of multiple genes contributes to a disease state...
  15. pmc Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
    Brian J O'Roak
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA
    Science 338:1619-22. 2012
    ..Our data support associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a β-catenin-chromatin-remodeling network to ASD etiology...
  16. pmc Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes
    Nicola H Chapman
    Division of Medical Genetics, School of Medicine, University of Washington, Seattle, WA, USA
    Hum Genet 134:1055-68. 2015
    ..We identified four strong candidate genes for ASD (SEZ6L, HISPPD1, FEZF1, SAMD11), all of which have been previously implicated in other studies, or have a strong biological argument for their relevance...
  17. pmc Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV
    Michael H Duyzend
    Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 98:45-57. 2016
    ..2 de novo deletions as well as a maternal transmission bias for secondary deletions that contribute to the clinical outcome on a background sensitized by the 16p11.2 CNV. ..
  18. pmc ERP evidence of atypical face processing in young children with autism
    Sara J Webb
    Psychiatry and Behavioral Sciences, Box 357920 CHDD, Seattle, WA 98195, USA
    J Autism Dev Disord 36:881-90. 2006
    ..These findings indicate that children with ASD have a disordered pattern of brain responses to faces and objects at an early age...
  19. doi request reprint Becoming a face expert: a computerized face-training program for high-functioning individuals with autism spectrum disorders
    Susan Faja
    Department of Psychology, University of Washington, USA
    Dev Neuropsychol 33:1-24. 2008
    ..These findings suggest that face processing ability and strategies in autism can be significantly improved through training...
  20. pmc A genotype-first approach to defining the subtypes of a complex disease
    Holly A Stessman
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Cell 156:872-7. 2014
    ..This "genotype-first" approach for complex disease necessitates the development of large, highly integrated networks of researchers, clinicians, and patient families, with the promise of improved therapies for subsets of patients. ..
  21. doi request reprint Brief report: social skills, internalizing and externalizing symptoms, and respiratory sinus arrhythmia in autism
    Emily Neuhaus
    Department of Psychiatry and Behavioral Sciences, University of Washington, Box 357920, Seattle, WA, 98195, USA
    J Autism Dev Disord 44:730-7. 2014
    ..These findings yield a more nuanced understanding of parasympathetic function in ASD, and suggest a role for integrative intervention strategies that address socioemotional difficulties. ..
  22. doi request reprint Neurobiological correlates of social functioning in autism
    Emily Neuhaus
    Department of Psychology, University of Washington, Box 351525, Seattle, WA 98195 1525, USA
    Clin Psychol Rev 30:733-48. 2010
    ..Particularly compelling are explanatory models that integrate mechanisms across biological systems, such as those linking dopamine and oxytocin with brain regions critical to reward processing...
  23. doi request reprint Clinical phenotype of the recurrent 1q21.1 copy-number variant
    Raphael Bernier
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA
    Genet Med 18:341-9. 2016
    ..1 deletion and duplication carriers ascertained through clinical genetic testing and family member cascade testing, with particular emphasis on dimensional assessment across multiple functional domains...
  24. ncbi request reprint Quantitative assessment of autism symptom-related traits in probands and parents: Broader Phenotype Autism Symptom Scale
    Geraldine Dawson
    University of Washington Autism Center and Department of Psychology, University of Washington, Seattle, WA 98195, USA
    J Autism Dev Disord 37:523-36. 2007
    ..BPASS scores were not correlated with ethnicity or parent education; however, some domains were correlated with IQ. The BPASS holds promise as a quantitative phenotypic assessment for genetic studies...
  25. pmc Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    Brian J O'Roak
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 43:585-9. 2011
    ..Our results show that trio-based exome sequencing is a powerful approach for identifying new candidate genes for ASDs and suggest that de novo mutations may contribute substantially to the genetic etiology of ASDs...