Profile

Raphael A. Bernier, PhD

Raphael A. Bernier, PhD

Autism Center

On staff since July 2009

Children's Title: Interim Director, Seattle Children's Autism Center

Academic Title: Associate Professor, Department of Psychiatry and Behavioral Sciences, University of Washington

Research Center: Center for Child Health, Behavior and Development

"Dr. Bernier's mission is twofold: to serve families affected by autism spectrum disorder and neurodevelopmental disorders and to conduct state of the art science in the service of families affected by both of these disorders."

  • Dr. Raphael Bernier is a licensed clinical psychologist, the Interim Executive Director of the Seattle Childrens Autism Center, and Professor at the University of Washington.

    Dr. Raphael Bernier is a licensed clinical psychologist, the Interim Executive Director of the Seattle Childrens Autism Center, and Professor at the University of Washington. Dr. Bernier received his PhD at the University of Washington, his clinical training at UCLA, and also holds degrees from the University of Wisconsin and Tufts University. As the author of over 100 scientific articles and chapters and the book Autism Spectrum Disorders: A Reference Handbook, the Principal Investigator of several NIH and privately funded studies focused on the etiology and neuroscience of Autism Spectrum Disorders, and an active clinician, Dr. Bernier is at the intersection of science and practice of ASD. His research spans genetics, neural mechanisms, and behavior in autism, and incorporates methodologies such as behavioral measures, electroencephalography (EEG), eye tracking (ET), and functional magnetic resonance imaging (fMRI).

  • Award Name Award Description Awarded By Award Date
    Wayne J Katon Award for Outstanding Mentorship University of WA 2016
    Seattle's Most Influential of 2014 Seattle Magazine 2014
    Association of Psychological Science Rising Star Award 2013
    Top Ten Paper of the Year 2012 Contributing author of paper cited Simons Foundation 2012
    Top Ten Paper of the Year 2011 Contributing author of paper cited NIMH 2011
    Time Magazine's Top Ten Scientific Achievements of 2009 Contributing author of paper cited Time Magazine 2009
    Americal Psychological Association Student Research Award 2007
    Wagner Fund Recipient for first author conference presentation 2005
    Huckabay Fellow 2005 - 2006
    National Alliance for Autism Research Pre-Doctoral Fellow 2005 - 2006
    International Meeting for Autism Research Award 2004
    AOF Fellow University of Wisconsin 1994 - 1995
    Golden Key National Honor Society 1993 - 1994
    Psi Chi National Honor Society 1992 - 1994
    • Bernier R, Hudac CM, Chen Q, Zeng C, Wallace AS, Gerdts J, Earl R, Peterson J, Wolken A, Peters A, Hanson E, Goin-Kochel RP, Kanne S, Snyder LG, Chung WK, Simons VIP consortium.
      Developmental trajectories for young children with 16p11.2 copy number variation.
      28349640 American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics , 2017 June : 174(4)367-380
    • Patowary A, Nesbitt R, Archer M, Bernier R, Brkanac Z
      Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder.
      28419775 Autism research : official journal of the International Society for Autism Research , 2017 Apr, 17
    • Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA, Deciphering Developmental Disorders Study., Lord CJ, Vissers LE, de Vries BB
      De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
      28343630 American journal of human genetics , 2017 Apr, 6 : 100(4)650-658 PMCID: PMC5384016
    • Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE
      Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
      28191889 Nature genetics , 2017 Apr, : 49(4)515-526 PMCID: PMC5374041
    • Webb SJ, Garrison MM, Bernier R, McClintic AM, King BH, Mourad PD
      Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound.
      27582229 Autism research : official journal of the International Society for Autism Research , 2017 Mar. : 10(3)472-484 PMCID: PMC5332517
    • Turner TN, Yi Q, Krumm N, Huddleston J, Hoekzema K, F Stessman HA, Doebley AL, Bernier RA, Nickerson DA, Eichler EE
      denovo-db: a compendium of human de novo variants.
      27907889 Nucleic acids research , 2017 Jan. 4 : 45(D1)D804-D811 PMCID: PMC5210614
    • Hudac CM, Stessman HAF, DesChamps TD, Kresse A, Faja S, Neuhaus E, Webb SJ, Eichler EE, Bernier RA
      Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism.
      28559932 Journal of neurodevelopmental disorders , 2017 : 924 PMCID: PMC5446693
    • Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium.
      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.
      28540026 Molecular autism , 2017 : 821 PMCID: PMC5441062
    • Faja S, Dawson G, Sullivan K, Meltzoff AN, Estes A, Bernier R
      Executive function predicts the development of play skills for verbal preschoolers with autism spectrum disorders.
      26890821 Autism research : official journal of the International Society for Autism Research , 2016 Dec. : 9(12)1274-1284 PMCID: PMC4990498
    • Green Snyder L, D'Angelo D, Chen Q, Bernier R, Goin-Kochel RP, Wallace AS, Gerdts J, Kanne S, Berry L, Blaskey L, Kuschner E, Roberts T, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK, Hanson E, Simons VIP consortium.
      Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.
      27207092 Journal of autism and developmental disorders , 2016 Aug. : 46(8)2734-48
    • Lugtenberg D, Reijnders MR, Fenckova M, Bijlsma EK, Bernier R, van Bon BW, Smeets E, Vulto-van Silfhout AT, Bosch D, Eichler EE, Mefford HC, Carvill GL, Bongers EM, Schuurs-Hoeijmakers JH, Ruivenkamp CA, Santen GW, van den Maagdenberg AM, Peeters-Scholte CM, Kuenen S, Verstreken P, Pfundt R, Yntema HG, de Vries PF, Veltman JA, Hoischen A, Gilissen C, de Vries BB, Schenck A, Kleefstra T, Vissers LE
      De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
      26757981 European journal of human genetics : EJHG , 2016 Aug. : 24(8)1145-53 PMCID: PMC4970694
    • Hippolyte L, Maillard AM, Rodriguez-Herreros B, Pain A, Martin-Brevet S, Ferrari C, Conus P, Macé A, Hadjikhani N, Metspalu A, Reigo A, Kolk A, Männik K, Barker M, Isidor B, Le Caignec C, Mignot C, Schneider L, Mottron L, Keren B, David A, Doco-Fenzy M, Gérard M, Bernier R, Goin-Kochel RP, Hanson E, Green Snyder L, 16p11.2 European Consortium, Simons Variation in Individuals Project Consortium., Ramus F, Beckmann JS, Draganski B, Reymond A, Jacquemont S
      The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
      26742926 Biological psychiatry , 2016 July 15 : 80(2)129-39
    • Neuhaus E, Bernier RA, Beauchaine TP
      Children with Autism Show Altered Autonomic Adaptation to Novel and Familiar Social Partners.
      26305051 Autism research : official journal of the International Society for Autism Research , 2016 May : 9(5)579-91
    • Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK, Simons VIP consortium.
      Clinical phenotype of the recurrent 1q21.1 copy-number variant.
      26066539 Genetics in medicine : official journal of the American College of Medical Genetics , 2016 Apr, : 18(4)341-9
    • Stessman HA, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJ, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T
      Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
      26942287 American journal of human genetics , 2016 Mar. 3 : 98(3)541-52 PMCID: PMC4890241
    • Upshaw MB, Bernier RA, Sommerville JA
      Infants' grip strength predicts mu rhythm attenuation during observation of lifting actions with weighted blocks.
      25939632 Developmental science , 2016 Mar. : 19(2)195-207
    • Duyzend MH, Nuttle X, Coe BP, Baker C, Nickerson DA, Bernier R, Eichler EE
      Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.
      26749307 American journal of human genetics , 2016 Jan. 7 : 98(1)45-57 PMCID: PMC4716684
    • D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study., 16p11.2 European Consortium., Simons Variation in Individuals Project (VIP) Consortium.
      Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
      26629640 JAMA psychiatry , 2016 Jan. : 73(1)20-30
    • Neuhaus E, Kresse A, Faja S, Bernier RA, Webb SJ
      Face processing among twins with and without autism: social correlates and twin concordance.
      26137974 Social cognitive and affective neuroscience , 2016 Jan. : 11(1)44-54 PMCID: PMC4692310
    • Chapman NH, Nato AQ Jr, Bernier R, Ankenman K, Sohi H, Munson J, Patowary A, Archer M, Blue EM, Webb SJ, Coon H, Raskind WH, Brkanac Z, Wijsman EM
      Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.
      26204995 Human genetics , 2015 Oct. : 134(10)1055-68 PMCID: PMC4578871
    • Neuhaus E, Bernier RA, Beauchaine TP
      Electrodermal Response to Reward and Non-Reward Among Children With Autism.
      25599655 Autism research : official journal of the International Society for Autism Research , 2015 Aug. : 8(4)357-70
    • Krumm N, Turner TN, Baker C, Vives L, Mohajeri K, Witherspoon K, Raja A, Coe BP, Stessman HA, He ZX, Leal SM, Bernier R, Eichler EE
      Excess of rare, inherited truncating mutations in autism.
      25961944 Nature genetics , 2015 June : 47(6)582-8 PMCID: PMC4449286
    • Naples A, Nguyen-Phuc A, Coffman M, Kresse A, Faja S, Bernier R, McPartland JC
      Erratum to: A computer-generated animated face stimulus set for psychophysiological research.
      25304732 Behavior research methods , 2015 June : 47(2)571
    • Naples A, Nguyen-Phuc A, Coffman M, Kresse A, Faja S, Bernier R, McPartland JC
      A computer-generated animated face stimulus set for psychophysiological research.
      25028164 Behavior research methods , 2015 June : 47(2)562-70 PMCID: PMC4297263
    • Nelson TM, Sheller B, Friedman CS, Bernier R
      Educational and therapeutic behavioral approaches to providing dental care for patients with Autism Spectrum Disorder.
      25470557 Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry , 2015 May : 35(3)105-13
    • Hanson E, Bernier R, Porche K, Jackson FI, Goin-Kochel RP, Snyder LG, Snow AV, Wallace AS, Campe KL, Zhang Y, Chen Q, D'Angelo D, Moreno-De-Luca A, Orr PT, Boomer KB, Evans DW, Kanne S, Berry L, Miller FK, Olson J, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK, Simons Variation in Individuals Project Consortium.
      The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.
      25064419 Biological psychiatry , 2015 May 1 : 77(9)785-93 PMCID: PMC5410712
    • Higdon R, Earl RK, Stanberry L, Hudac CM, Montague E, Stewart E, Janko I, Choiniere J, Broomall W, Kolker N, Bernier RA, Kolker E
      The promise of multi-omics and clinical data integration to identify and target personalized healthcare approaches in autism spectrum disorders.
      25831060 Omics : a journal of integrative biology , 2015 Apr, : 19(4)197-208 PMCID: PMC4389910
    • Mazina V, Gerdts J, Trinh S, Ankenman K, Ward T, Dennis MY, Girirajan S, Eichler EE, Bernier R
      Epigenetics of autism-related impairment: copy number variation and maternal infection.
      25629966 Journal of developmental and behavioral pediatrics : JDBP , 2015 Feb. : 36(2)61-7 PMCID: PMC4318761
    • Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro JE, Faucett WA, Martin CL, Ledbetter DH
      The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.
      25493922 JAMA psychiatry , 2015 Feb. : 72(2)119-26
    • Webb SJ, Bernier R, Henderson HA, Johnson MH, Jones EJ, Lerner MD, McPartland JC, Nelson CA, Rojas DC, Townsend J, Westerfield M
      Guidelines and best practices for electrophysiological data collection, analysis and reporting in autism.
      23975145 Journal of autism and developmental disorders , 2015 Feb. : 45(2)425-43 PMCID: PMC4141903
    • Hudac CM, Kresse A, Aaronson B, DesChamps TD, Webb SJ, Bernier RA
      Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications.
      26213586 Journal of neurodevelopmental disorders , 2015 : 7(1)25 PMCID: PMC4514956
    • Deriziotis P, O'Roak BJ, Graham SA, Estruch SB, Dimitropoulou D, Bernier RA, Gerdts J, Shendure J, Eichler EE, Fisher SE
      De novo TBR1 mutations in sporadic autism disrupt protein functions.
      25232744 Nature communications , 2014 Sept. 18 : 54954 PMCID: PMC4212638
    • Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, de Vries BB, Kleefstra T, Eichler EE, Van der Aa N, Kooy RF
      The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
      25169753 American journal of medical genetics. Part C, Seminars in medical genetics , 2014 Sept. : 166C(3)315-26 PMCID: PMC4195434
    • Ackerman S, Wenegrat J, Rettew D, Althoff R, Bernier R
      No increase in autism-associated genetic events in children conceived by assisted reproduction.
      24842673 Fertility and sterility , 2014 Aug. : 102(2)388-93
    • Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LE, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BB, Katsanis N, Eichler EE
      Disruptive CHD8 mutations define a subtype of autism early in development.
      24998929 Cell , 2014 July 17 : 158(2)263-76 PMCID: PMC4136921
    • Hadley D, Wu ZL, Kao C, Kini A, Mohamed-Hadley A, Thomas K, Vazquez L, Qiu H, Mentch F, Pellegrino R, Kim C, Connolly J, AGP Consortium., Glessner J, Hakonarson H
      The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.
      24927284 Nature communications , 2014 June 13 : 54074 PMCID: PMC4059929
    • Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW
      Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
      24768552 American journal of human genetics , 2014 May 1 : 94(5)677-94 PMCID: PMC4067558
    • Bernier R, Aaronson B, Kresse A
      EEG mu rhythm in typical and atypical development.
      24747917 Journal of visualized experiments : JoVE , 2014 Apr, 9 : (86) PMCID: PMC4165377
    • King BH, Navot N, Bernier R, Webb SJ
      Update on diagnostic classification in autism.
      24441420 Current opinion in psychiatry , 2014 Mar. : 27(2)105-9 PMCID: PMC4929984
    • Neuhaus E, Bernier R, Beauchaine TP
      Brief report: social skills, internalizing and externalizing symptoms, and respiratory sinus arrhythmia in autism.
      23982488 Journal of autism and developmental disorders , 2014 Mar. : 44(3)730-7
    • Stessman HA, Bernier R, Eichler EE
      A genotype-first approach to defining the subtypes of a complex disease.
      24581488 Cell , 2014 Feb. 27 : 156(5)872-7 PMCID: PMC4076166
    • Buxbaum JD, Bolshakova N, Brownfeld JM, Anney RJ, Bender P, Bernier R, Cook EH, Coon H, Cuccaro M, Freitag CM, Hallmayer J, Geschwind D, Klauck SM, Nurnberger JI, Oliveira G, Pinto D, Poustka F, Scherer SW, Shih A, Sutcliffe JS, Szatmari P, Vicente AM, Vieland V, Gallagher L
      The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses.
      25392729 Molecular autism , 2014 : 534 PMCID: PMC4228819
    • Ankenman K, Elgin J, Sullivan K, Vincent L, Bernier R
      Nonverbal and verbal cognitive discrepancy profiles in autism spectrum disorders: influence of age and gender.
      24450323 American journal on intellectual and developmental disabilities , 2014 Jan. : 119(1)84-99
    • Dawson G, Bernier R
      A quarter century of progress on the early detection and treatment of autism spectrum disorder.
      24342850 Development and psychopathology , 2013 Nov. : 25(4 Pt 2)1455-72
    • Gerdts JA, Bernier R, Dawson G, Estes A
      The broader autism phenotype in simplex and multiplex families.
      23117424 Journal of autism and developmental disorders , 2013 July : 43(7)1597-605
    • Bernier R, Aaronson B, McPartland J
      The role of imitation in the observed heterogeneity in EEG mu rhythm in autism and typical development.
      23511847 Brain and cognition , 2013 June : 82(1)69-75
    • Oberman LM, McCleery JP, Hubbard EM, Bernier R, Wiersema JR, Raymaekers R, Pineda JA
      Developmental changes in mu suppression to observed and executed actions in autism spectrum disorders.
      22302843 Social cognitive and affective neuroscience , 2013 Mar. : 8(3)300-4 PMCID: PMC3594721
    • Girirajan S, Dennis MY, Baker C, Malig M, Coe BP, Campbell CD, Mark K, Vu TH, Alkan C, Cheng Z, Biesecker LG, Bernier R, Eichler EE
      Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
      23375656 American journal of human genetics , 2013 Feb. 7 : 92(2)221-37 PMCID: PMC3567267
    • O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J
      Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
      23160955 Science (New York, N.Y.) , 2012 Dec. 21 : 338(6114)1619-22 PMCID: PMC3528801
    • Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S, Simons VIP Consortium., 16p11.2 European Consortium.
      A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
      23054248 Journal of medical genetics , 2012 Oct. : 49(10)660-8 PMCID: PMC3494011
    • Dawson G, Bernier R, Ring RH
      Social attention: a possible early indicator of efficacy in autism clinical trials.
      22958480 Journal of neurodevelopmental disorders , 2012 May 17 : 4(1)11 PMCID: PMC3436672
    • O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE
      Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
      22495309 Nature , 2012 Apr, 4 : 485(7397)246-50 PMCID: PMC3350576
    • Ackerman S, Reilly B, Bernier R
      Tympanostomy tube placement in children with autism.
      22343482 Journal of developmental and behavioral pediatrics : JDBP , 2012 Apr, : 33(3)252-8
    • Simons Vip Consortium.
      Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.
      22445335 Neuron , 2012 Mar. 22 : 73(6)1063-7
    • Lord C, Petkova E, Hus V, Gan W, Lu F, Martin DM, Ousley O, Guy L, Bernier R, Gerdts J, Algermissen M, Whitaker A, Sutcliffe JS, Warren Z, Klin A, Saulnier C, Hanson E, Hundley R, Piggot J, Fombonne E, Steiman M, Miles J, Kanne SM, Goin-Kochel RP, Peters SU, Cook EH, Guter S, Tjernagel J, Green-Snyder LA, Bishop S, Esler A, Gotham K, Luyster R, Miller F, Olson J, Richler J, Risi S
      A multisite study of the clinical diagnosis of different autism spectrum disorders.
      22065253 Archives of general psychiatry , 2012 Mar. : 69(3)306-13 PMCID: PMC3626112
    • Bernier R, Gerdts J, Munson J, Dawson G, Estes A
      Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families.
      21905246 Autism research : official journal of the International Society for Autism Research , 2012 Feb. : 5(1)13-20 PMCID: PMC3237782
    • Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, Tsuang MT, Wijsman EM, Raskind WH, Brkanac Z
      Evidence for involvement of GNB1L in autism.
      22095694 American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics , 2012 Jan. : 159B(1)61-71 PMCID: PMC3270696
    • Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, Eichler EE
      Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
      22102821 PLoS genetics , 2011 Nov. : 7(11)e1002334 PMCID: PMC3213131
    • O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE
      Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
      21572417 Nature genetics , 2011 June : 43(6)585-9 PMCID: PMC3115696
    • Gerdts J, Bernier R
      The broader autism phenotype and its implications on the etiology and treatment of autism spectrum disorders.
      22937250 Autism research and treatment , 2011 : 2011545901 PMCID: PMC3420416
    • Chapman NH, Estes A, Munson J, Bernier R, Webb SJ, Rothstein JH, Minshew NJ, Dawson G, Schellenberg GD, Wijsman EM
      Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16.
      20963441 Human genetics , 2011 Jan. : 129(1)59-70 PMCID: PMC3082447
    • Bernier R, Mao A, Yen J
      Psychopathology, families, and culture: autism.
      21056350 Child and adolescent psychiatric clinics of North America , 2010 Oct. : 19(4)855-67
    • Neuhaus E, Beauchaine TP, Bernier R
      Neurobiological correlates of social functioning in autism.
      20570622 Clinical psychology review , 2010 Aug. : 30(6)733-48
    • Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H
      Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
      19404257 Nature , 2009 May 28 : 459(7246)569-73 PMCID: PMC2925224
    • Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H
      Common genetic variants on 5p14.1 associate with autism spectrum disorders.
      19404256 Nature , 2009 May 28 : 459(7246)528-33 PMCID: PMC2943511
    • Faja S, Aylward E, Bernier R, Dawson G
      Becoming a face expert: a computerized face-training program for high-functioning individuals with autism spectrum disorders.
      18443967 Developmental neuropsychology , 2008 : 33(1)1-24
    • Dawson G, Estes A, Munson J, Schellenberg G, Bernier R, Abbott R
      Quantitative assessment of autism symptom-related traits in probands and parents: Broader Phenotype Autism Symptom Scale.
      16868845 Journal of autism and developmental disorders , 2007 Mar. : 37(3)523-36
    • Webb SJ, Dawson G, Bernier R, Panagiotides H
      ERP evidence of atypical face processing in young children with autism.
      16897400 Journal of autism and developmental disorders , 2006 Oct. : 36(7)881-90 PMCID: PMC2989721
    • Richler J, Luyster R, Risi S, Hsu WL, Dawson G, Bernier R, Dunn M, Hepburn S, Hyman SL, McMahon WM, Goudie-Nice J, Minshew N, Rogers S, Sigman M, Spence MA, Goldberg WA, Tager-Flusberg H, Volkmar FR, Lord C
      Is there a 'regressive phenotype' of Autism Spectrum Disorder associated with the measles-mumps-rubella vaccine? A CPEA Study.
      16729252 Journal of autism and developmental disorders , 2006 Apr, : 36(3)299-316
    • Molloy CA, Morrow AL, Meinzen-Derr J, Dawson G, Bernier R, Dunn M, Hyman SL, McMahon WM, Goudie-Nice J, Hepburn S, Minshew N, Rogers S, Sigman M, Spence MA, Tager-Flusberg H, Volkmar FR, Lord C
      Familial autoimmune thyroid disease as a risk factor for regression in children with Autism Spectrum Disorder: a CPEA Study.
      16598435 Journal of autism and developmental disorders , 2006 Apr, : 36(3)317-24
    • Bernier R, Dawson G, Panagiotides H, Webb S
      Individuals with autism spectrum disorder show normal responses to a fear potential startle paradigm.
      16167091 Journal of autism and developmental disorders , 2005 Oct. : 35(5)575-83
    • Luyster R, Richler J, Risi S, Hsu WL, Dawson G, Bernier R, Dunn M, Hepburn S, Hyman SL, McMahon WM, Goudie-Nice J, Minshew N, Rogers S, Sigman M, Spence MA, Goldberg WA, Tager-Flusberg H, Volkmar FR, Lord C
      Early regression in social communication in autism spectrum disorders: a CPEA Study.
      15843100 Developmental neuropsychology , 2005 : 27(3)311-36
    • Brown WA, Cammuso K, Sachs H, Winklosky B, Mullane J, Bernier R, Svenson S, Arin D, Rosen-Sheidley B, Folstein SE
      Autism-related language, personality, and cognition in people with absolute pitch: results of a preliminary study.
      12757355 Journal of autism and developmental disorders , 2003 Apr, : 33(2)163-7; discussion 169
    • Heger A, Ticson L, Velasquez O, Bernier R
      Children referred for possible sexual abuse: medical findings in 2384 children.
      12201160 Child abuse and neglect , 2002 June : 26(6-7)645-59

Overview

Medical/Professional School

Tufts University, Medford
University of Washington, Seattle, Clinical Psychology

Research Description

The Bernier Lab is committed to advancing our understanding of autism spectrum disorders (ASD) and other related developmental disabilities. We focus on identifying and clarifying how autism develops, how the brain is involved, and how we can intervene to improve the quality of life for individuals and their families. To do this we collaborate with scientists near and far and employ approaches such as imaging, genetic sequencing, and behavioral assessments to ensure that we?re moving science forward as quickly as possible in the service of families. For some studies we use a "genetics-first approach" by identifying rare genetic variants that are likely contributing to ASD and following up with in-depth and multi-faceted evaluations to understand the individual and the family. Following this methodology, we seek to identify meaningful subtypes of ASD in order to develop personalized interventions. For other studies we employ imaging techniques to provide a window into what is happening in the brain. And in other studies we focus on assessing the efficacy of treatments to understand how interventions can impact quality of life.

About My Work

http://www.bernierlab.uw.edu