{"id":35,"date":"2016-04-07T08:26:29","date_gmt":"2016-04-07T08:26:29","guid":{"rendered":"http:\/\/depts.washington.edu\/rablab\/?page_id=35"},"modified":"2023-12-19T13:52:23","modified_gmt":"2023-12-19T20:52:23","slug":"publications","status":"publish","type":"page","link":"https:\/\/depts.washington.edu\/rablab\/news-publications-and-presentations\/publications\/","title":{"rendered":"Publications"},"content":{"rendered":"
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2022<\/h4>\n

Mitchel MW, Myers SM, Heidlebaugh AR, Taylor CM, <\/span><\/span>Rea H<\/span><\/span>, <\/span><\/span>Neuhaus E<\/span><\/span>, <\/span><\/span>Kurtz-Nelson EC<\/span><\/span>, <\/span><\/span>Earl R<\/span><\/span>, <\/span><\/span>Bernier R<\/span><\/span>, Ledbetter DH, Martin CL, <\/span><\/span>Eichler EE<\/span><\/span>. <\/span><\/span>CHD8<\/span><\/span>-Related Neurodevelopmental Disorder with Overgrowth. <\/span><\/span>2022 Oct 27<\/span><\/span>. In: Adam MP, <\/span>Mirzaa<\/span> GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. <\/span>GeneReviews<\/span><\/span>\u00ae<\/span><\/span> [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132023. PMID: 36302072.<\/span><\/span><\/a><\/p>\n

Dingemans AJM, <\/span>Truijen<\/span> KMG, van de Ven S, <\/span><\/span>Bernier R<\/span><\/span>, Bongers EMHF, Bouman A, de Graaff-Herder L, Eichler EE, <\/span>Gerkes<\/span> EH, De Geus CM, van Hagen JM, Jansen PR, Kerkhof J, Kievit AJA, <\/span>Kleefstra<\/span> T, Maas SM, de Man SA, McConkey H, Patterson WG, Dobson AT, Prijoles EJ, Sadikovic B, Relator R, Stevenson RE, <\/span>Stumpel<\/span> CTRM, <\/span>Heijligers<\/span> M, Stuurman KE, <\/span>L\u00f6hner<\/span> K, Zeidler S, Lee JA, Lindy A, Zou F, Tedder ML, Vissers LELM, de Vries BBA. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8. <\/span>Transl<\/span> Psychiatry. <\/span><\/span>2022 Oct 1<\/span><\/span>;12(1):421. <\/span>doi<\/span>: 10.1038\/s41398-022-02189-1. PMID: 36182950; PMCID: PMC9526704<\/span><\/span><\/a><\/p>\n

Katherine E Lawrence, Leanna M Hernandez, Emily Fuster, Namita T Padgaonkar, Genevieve Patterson, Jiwon Jung, Nana J Okada, Jennifer K Lowe, Jackson N Hoekstra, Allison Jack, Elizabeth Aylward, Nadine Gaab, John D Van Horn, Raphael A Bernier, James C McPartland, Sara J Webb, Kevin A Pelphrey, Shulamite A Green, Susan Y Bookheimer, Daniel H Geschwind, Mirella <\/span>Dapretto<\/span>, GENDAAR Consortium, Impact of autism genetic risk on brain connectivity: a mechanism for the female protective effect, <\/span><\/span>Brain<\/span><\/span>, Volume 145, Issue 1, January 2022, Pages 378\u2013387,<\/span><\/span> https:\/\/doi.org\/10.1093\/brain\/awab204<\/span><\/span><\/a><\/p>\n

2021<\/h4>\n

Cousin, M.A., Creighton, B.A., Breau, K.A., Spillman, R.C., Torti, E., Dontu, S., Tripathi, S., Ajit, D., Harper, K.M., Stankewich, M.C., Person, R.E., Si, Y., Normand, E.A., Blevins, A., May, A.S., Bier, L., Aggarwal, V., Mancini, G.M.S., van Slegtenhorst, M.A., Cremer, K, Becker, J., Engels, H., Aretz, S., MacKenzie, J.J., Brilstra, E., van Gassen, K.L.I., van Jaarsveld, R.H., Oegema, R., Parsons, G.M., Mark, P., Helbig, I., McKeown, S.E., Stratton, R., Cogne, B., Isidor, B., Cacheiro, P., Smedley, D., Firth, H.V., Bierhals, T., Kloth, K., Weiss, D., Fairley, C., Shieh, J.T., Kritzer, A., Jayakar, P., Kurtz-Nelson, E., Bernier, R., Wang, T., Eichler, E.E., van de Laar, I.M.B.H., McConkie-Rosell, A., McDonald, M., Kemppainen, J., Lanpher, B.C., Schultz-Rogers, L.E., Gunderson, L.B., Pichurin, P.N., Yoon, G., Zech, M., Jech, R., Winkelmann, J., Undiagnosed Diseases Network, Genomics England Research Consortium, Zimmermann, M.T., Temple, B., Moy, S.S., Klee, E.W., Tan, Q. K.-G., & Lorenzo, D.N. (accepted for publication). Pathogenic SPTBN1<\/em> variants cause a novel autosomal dominant neurodevelopmental syndrome. Nature Genetics<\/em>.<\/a><\/p>\n

Coll-Tan\u00e9, M., Gong, N., Belfer, S.J., van Renssen, L., Kurtz-Nelson, E., Szuperak, M., Eidhof, I., van Reijmersdal, B., Terwindt, I., Verheij, M., Hudac, C.M., Bernier, R.A., Pillen, S., Earl, R.K., Eichler, E.E., Kleefstra, T., Kayser, M.S., & Schenck, A. (2021). The CHD8\/CHD7\/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects. Science Advances<\/em>, 7(23), 1-16.<\/a><\/p>\n

Radio, F.C., Pang, K., Ciolfi, A., Levy, M.A., Hern\u00e1ndez-Garc\u00eda, A., Lucia Pedace, L., Pantaleoni, F., Liu, Z., de Boer, E., Jackson, A., Bruselles, A., McConkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M.L., McWalter, K., Desai, M., Monaghan, K.G., Telegrafi, A., Philippe, C., Vitobello, A., Au, M., Grand, K., Sanchez-Lara, P.A. Joanne Baez, J., Lindstrom, K., Kulch, P., Sebastian, J., Madan-Khetarpal, S., Roadhouse, C., MacKenzie, J.J., Monteleone, B., Saunders, C.J. Jean Cuevas, J.K., Cross, L., Zhou, D., Hartley, T., Sawyer, S.L., Paoli Monteiro, F., Vertemati Secches, T., Kok, F., Schultz-Rogers, L.E., Macke, E.L., Morava, E., Klee, E.W., Kemppainen, J., Iascone, M., Selicorni, A., Tenconi, R., Amor, D.J., Pais, L., Gallacher, L., Turnpenny, P.D., Stals, K., Ellard, S., Cabet, S., Lesca, G., Pascal, J., Steindl, K., Ravid, S., Weiss, W., Castle, A.M.R., Carter, M.T., Kalsner, L., de Vries, B.B.A., van Bon, B.W., Wevers, M.R., Pfundt, R., Stegmann, A.P.A., Kerr, B., Kingston, H.M., Chandler, K.E., Sheehan, W., Elias, A.F., Shinde, D.N., Towne, M.C., Robin, N.H., Goodloe, D., Vanderver, A., Sherbini, O., Bluske, K., Hagelstrom, R.T., Zanus, C., Faletra, F., Musante, L., Kurtz-Nelson, E.C., Earl, R.K., Anderlid, B.-M., Morin, G., van Slegtenhorst, M., Diderich, K.E.M., Brooks, A.S., Gribnau, J., Boers, R.G., Robert Finestra, T., Carter, L.B., Rauch, A., Gasparini, P., Boycott, K.M., Stefan Barakat, T., Graham Jr, J.M., Faivre, L., Banka, S., Wang, T., Eichler, E.E., Priolo, M., Dallapiccola, B., Vissers, L.E.L.M., Sadikovic, B., Scott, D.A., Holder Jr, J.L., & Tartaglia, M. (2021). SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. American Journal of Human Genetics<\/em>. Advance online publication.<\/a><\/p>\n

Arnett, A.B., Rhoads, C.L., Rutter, T. (2021). Reduced error recognition explains post-error slowing differences among children with attention deficit hyperactivity disorder. Journal of International Neuropsychological Society.<\/em><\/a><\/p>\n

Arnett, A.B., Wang, T., Eichler, E.E., Bernier, R.A. (2021). Reflections on the Genetics-First Approach to Advancements in Molecular Genetic and Neurobiological Research on Neurodevelopmental Disorders. Journal of Neurodevelopmental Disorders.<\/em><\/a><\/p>\n

Peisch, V.*, Rutter, T.*, Wilkinson, C., & Arnett, A.B.<\/strong> (2021). Sensory Processing and P300 Event-Related Potential Correlates of Stimulant Response in Children with Attention Deficit\/Hyperactivity Disorder. Clinical Neurophysiology.<\/em><\/a><\/p>\n

Mamiya, P., Arnett, A.B., & Stein, M.A. (2021). Precision Medicine Care in ADHD: The Case for Neural Excitation and Inhibition. Brain Sciences, 11<\/em>(1), 91.<\/em><\/a><\/p>\n

Earl, R. K., Ward, T., Gerdts, J., Eichler, E. E., Bernier, R. A., & Hudac, C. M. (2021). Sleep Problems in Children with ASD and Gene Disrupting Mutations.\u00a0The Journal of Genetic Psychology<\/em>, 1-18.<\/a><\/p>\n

Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., … & Eichler, E. E. (2021). Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.\u00a0Genome medicine<\/em>,\u00a013<\/em>(1), 1-26.<\/a><\/p>\n

2020<\/h4>\n

Kurtz-Nelson, E.C., Tham, S.W., Ahlers, K., Cho, D., Wallace, A.S., Eichler, E.E., Bernier, R.A., & Earl, R.K. (2020). Brief report: Associations between self-injurious behaviors and abdominal pain among individuals with ASD-associated disruptive mutations. Journal of Autism and Developmental Disorders. Advance online publication.<\/a><\/p>\n

Arnett, A.B., Beighley, J.S., Kurtz-Nelson, E.C., Hoekzema, K., Wang, T., Bernier, R.A., & Eichler, E.E. (2020). Developmental predictors of cognitive and adaptive outcomes in genetic subtypes of autism spectrum disorder. Autism Research, 13, 1659-1669.<\/a><\/p>\n

Trinh, S., Arnett, A., Kurtz-Nelson, E., Beighley, J., Picoto, M., & Bernier, R. (2020). Transcriptional subtyping explains phenotyping variability in genetic subtypes of autism spectrum disorder. Development and Psychopathology, 32(4), 1353-1361.<\/a><\/p>\n

Wang, T., Hoekzma, K., Vecchio, D., Huidan, W., Sulovari, A., Coe, B.P., Gillentine,\u00a0M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl., R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M. \u2026 & Eichler, E.E. (2020). Large scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature Communications, 11<\/em>, 4932.<\/a><\/p>\n

Wilfert, A. B., Turner, T. N., Murali, S. C., Hsieh, P., Sulovari, A., Wang, T., Coe, B.P.,\u00a0Guo, H., Hoekzma, K., Bakken, T.R., Winterkorn, L.H., Evani, U.S., Byrksa-Bishop, M., Earl, R.K., Bernier, R.A., the SPARK consortium, Zody, M.C., & Eichler, E.E. (2020). Recent ultra-rare inherited mutations identify novel autism candidate risk genes.\u00a0bioRxiv<\/em>.<\/a><\/p>\n

Michael S. Breen, Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Mafalda Barbosa, Anne B. Arnett, Evangeline Kurtz-Nelson, Emanuele Agolini, Agatino Battaglia, Andreas G. Chiocchetti, Christine M. Freitag, Alicia Garcia-Alcon, Paola Grammatico, Irva Hertz-Picciotto, Yunin Ludena-Rodriguez, Carmen Moreno, Antonio Novelli, Mara Parellada, Giulia Pascolini, Flora Tassone, Dorothy E. Grice, Daniele Di Marino, Raphael A. Bernier, Alexander Kolevzon, Andrew J. Sharp, Joseph D. Buxbaum, Paige M. Siper, Silvia De Rubeis;Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. The American Journal of Human Genetics. 2020. ISSN 0002-9297. https:\/\/doi.org\/10.1016\/j.ajhg.2020.07.003.<\/a><\/p>\n

Rutter, T. M., & Arnett, A. B. (2020). Temperament Traits Mark Liability for Coexisting Psychiatric Symptoms in Children With Elevated ADHD Symptoms.\u00a0Journal of Attention Disorders<\/i>.\u00a0https:\/\/doi.org\/10.1177\/1087054720943282<\/a><\/p>\n

Hudac, C.M.*, Bove, J.*, Barber, S., Duyzend, M., Wallace, A.S., Martin, C.L., Ledbetter, D.H., Hanson, E., Goin-Kochel, R.P., Green-Synder, L., Chung, W., Eichler, E.E., & Bernier, R.A. (2020). Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers. Autism Research<\/em>, Online 29 June 2020, 1-11. doi:10.1002\/aur.2332\u00a0<\/a><\/p>\n

Kurtz-Nelson, Evangeline C., et al. \u201cCo-Occurring Medical Conditions among Individuals with ASD-Associated Disruptive Mutations.\u201d Children’s Health Care<\/i>, 2020, pp. 1\u201324., doi:10.1080\/02739615.2020.1741361.<\/a><\/p>\n

J. S. Beighley, C. M. Hudac, A. B. Arnett, J. L. Peterson, J. Gerdts, A. S. Wallace, H. C. Mefford, K. Hoekzema, T. N. Turner, B. J. O\u2019Roak, E. E. Eichler, R. A. Bernier, Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes, Biological Psychiatry, Volume 87, Issue 2, 2020.<\/a><\/p>\n

Schallmo, M., Kolodny, T., Kale, A.M.\u00a0et al.<\/i>\u00a0Weaker neural suppression in autism.\u00a0Nat Commun<\/i>\u00a011,\u00a0<\/b>2675 (2020). https:\/\/doi.org\/10.1038\/s41467-020-16495-z<\/a><\/p>\n

Kolodny, T., Schallmo, M.\u2010P., Gerdts, J., Edden, R.A.E., Bernier, R.A. and Murray, S.O. (2020), Concentrations of Cortical GABA and Glutamate in Young Adults With Autism Spectrum Disorder. Autism Research. doi:10.1002\/aur.2300<\/a><\/p>\n

Kolodny, Tamar, et al. \u201cResponse Dissociation in Hierarchical Cortical Circuits: a Unique Feature of Autism Spectrum Disorder.\u201d The Journal of Neuroscience<\/i>, vol. 40, no. 11, 2020, pp. 2269\u20132281., doi:10.1523\/jneurosci.2376-19.2020.<\/a><\/p>\n

2019<\/h4>\n

Peterson, J.L., Earl, R.K., Fox, E.A. et al. Journ Child Adol Trauma (2019) 12: 529. https:\/\/doi.org\/10.1007\/s40653-019-00253-5<\/a><\/p>\n

Beighley, J.S.*, Hudac, C.M.*, Arnett, A.B., Peterson, J.L., Gerdts, J., Wallace, A.S., Mefford, H., Hoekzema, K., Turner, T.N., O\u2019Roak, B.J., Eichler, E.E., & Bernier, R.A. (2019). Clinical and behavioral phenotypes of carriers of mutations in CHD8 or its conserved target genes. Biological Psychiatry<\/i>.<\/a><\/p>\n

Guo, H., Duyzend, M. H., Coe, B. P., Baker, C. A., Hoekzema, K., Gerdts, J., . . . Eichler, E. E. (2019). Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genetics in Medicine<\/i>, 21<\/i>, 1611-1620.<\/a><\/p>\n

al-Haddad, B.J.S, Jacobsson, B., Chabra, S., et al. (2019). Long-term Risk of Neuropsychiatric Disease After Exposure to Infection in Utero.\u00a0JAMA Psychiatry.\u00a0<\/em>10.1001\/jamapsychiatry.2019.0029.<\/a><\/p>\n

2018<\/h4>\n

Neuhaus, E., Bernier, R.A., Tham, S.W., Webb, S.J. (2018). Gastrointestinal and psychiatric symptoms among children and adolescents with autism spectrum disorder. Frontiers in Psychiatry<\/em>, 9(515): 1-9.<\/a><\/p>\n

Chapman, N., Bernier, R., Webb, S., Munson, J., Blue, E., Chen, D., Heigham, E., Raskind, W.H., Wijsman, E. (2018). Replication of a Risk Haplotype on 1p36.33 for Autism Spectrum Disorder. Human Genetics<\/em>, 137(10):807-815.\u00a0<\/a><\/p>\n

Arnett, A., Hudac, C., DesChamps, T., Cairney, B., Gerdts, J., Wallace, A., Bernier, R., Webb, S. (2018). Auditory perfection is associated with implicit language learning and receptive language ability in autism spectrum disorder. Brain and Language<\/em>, 187:1-8.<\/a><\/p>\n

Murray, S.O., Schallmo, M.P., Kolodny, T., Millin, R., Kale, A., Thomas, P., Rammsayer, T.H., Troche, S.J., Bernier, R.A., Tadin, D. (2018). Sex Differences in Visual Motion Processing.\u00a0Current Biology, 28(17):2794-2799.e3<\/em>.\u00a0DOI: <\/span><\/a>10.1016\/j.cub.2018.06.014.<\/a><\/p>\n

Arnett, AB., Trinh, S., Bernier, RA. (2018). The State of Research on the Genetics of Autism Spectrum Disorder: methodological, clinical and conceptual progress. Current Opinion in Psychology<\/em>, June 2019; 27: 1-5.\u00a0https:\/\/doi.org\/10.1016\/j.copsyc.2018.07.004<\/a><\/p>\n

Arnett, AB., Rhoads, CL., Hoekzema, K., Turner, TN., Gerdts, JA., Wallace, AS., Bedrosian-Sermone, S., Eichler, EE., Bernier, RA. (2018). The Autism Spectrum Phenotype in ADNP Syndrome. International Society for Autism Research.<\/a><\/p>\n

Sanders, S.J., Campbell, A.J., Cottrell, J.R., Moller, R.S., Wagner, F.F., Auldridge, A.L., Bernier, R.A., Catterall, W.A., Chung, W.K., Empfield, J.R., George, A.L., Hipp, J.F., Khwaja, O., Kiskinis, E., Lal, D., Malhotra, D., Millichap, J.J., Otis, T.S., Petrous, S., Pitt, G., Schust, L.F., Taylor, C.M., Tjernagel, J., Spiro, J.E., Bender, K.J. (2018) Progress in Understanding and Treating SCN2A-Mediated Disorders. Trends in Neuroscience<\/em>, 41(7):442-456. PMID: 29691040.<\/a><\/p>\n

Van Dijck, A., Vulto-van Silfhout, A., Cappuyns, E., van der Werf, I., Mancini, G., Tzschach, A., Bernier, R., Gozes, I., Eichler, E., Romano, C., Lindstrand, A., Nordgren, A., ADNP Consortium, Kvarnung, M., Kleffstra, T., de Vries, B., Kury, S., Rosenfeld, J., Meuwissen, M., Vandeweyer, G., Kooy, RF. (2018). Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP. Biological Psychiatry<\/em>. pii: S0006-3223(18)31303-9. PMID: 29724491.<\/a><\/p>\n

Cheng, H, et. al. (2018). Truncating Variants in NAA15 are associated with variable levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet, <\/em>May 2018; 102 (5): 985-994. \u00a0doi: 10.1016\/j.ajhg.2018.03.004.<\/a><\/p>\n

Hudac, CM, DesChamps, TD, Arnett, AB, Cairney, BE, Ma, R, Webb, SJ, Bernier, RA. (2018). Early enhanced processing and delayed habituation to deviance sounds in Autism Spectrum Disorder. Brain and Cognition,<\/em> 123, 110-119. DOI: 10.1016\/j.bandc.2018.03.004.<\/a><\/p>\n

Schallmo, MP, Kale, AM, Millin, R, Flevaris, AV, Brkanac, Z, Edden, RAE, Bernier, RA, Murray, SO. (2018). Suppression of Facilitation of Human Neural Responses. eLife<\/em> 2018;7:e30334. DOI: 10.7554\/eLife.30334. PMID: 29376822.<\/a><\/p>\n

Gerdts, JA, Mancini, J, Fox, E, Rhoads, C, Ward, T, Easley, E, Bernier, R. (2018). Interdisciplinary Team Evaluation for the Diagnostic Assessment of Autism Spectrum Disorder.\u00a0Journal of Developmental and Behavioral Pediatrics, 39(4), 271-281<\/em>. PMID: 29346136.<\/a><\/p>\n

Neuhaus, E, Beauchaine, T, Benier, R, Webb, S. (2018). Child and Family Characteristics Moderate Agreement between caregiver and clinician report of Autism Symptoms. Autism Research<\/em>, 11(3):476-487. PMID: 29251835.<\/a><\/p>\n

2017<\/h4>\n

The SPARK Consortium (2018). SPARK (Simons foundation Powering Autism Research for Knowledge): a US cohort of 50,000 families to accelerate autism research. Neuron, 97(3), 488-493. PMID: 29420931<\/em>.<\/a><\/p>\n

Luhrs, K, Ward, T, Hudac, C, Gerdts, J, Stessman, H, Eichler, E, Bernier, R. (2017). Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism. Autism Research and Treatment<\/em>. PMID: 29250444<\/a><\/p>\n

Siper, P, De Rubeis, S, del Pilar Trelles, M, Durkin, A, di Marino, D, Muratet, F, Frank, Y, Lozano, R, Eichler, E, Kelly, M, Beighley, J, Gerdts, J, Wallace, A, Mefford, H, Bernier, R, Kolevzon, A, Buxbaum, J. (2017). Prospective Investigation of FOXP1 syndrome. Molecular Autism.<\/em> October 24; 8:57. PMID: 29090079.<\/a><\/p>\n

Jansen, S., et, al. (In Press). A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. European Journal of Human Genetics<\/em>. Dec 5. PMID: 29209020.<\/a><\/p>\n

Wallace, AS, Hudac, CM, Steinman, KJ, Peterson, JL, DesChamps, TD, Duyzend, MH, Nuttle, X, Eichler, EE, Bernier, AB. (2017). Longitudinal report of child with de novo 16p11.2 triplication. Clinical Case Reports<\/em>. 6:1, p 147-154.<\/a><\/p>\n

Earl, RK, Turner, TN, Mefford, HC, Hudac, CM, Gerdts, J, Eicherler, EE, Bernier, RA. (2017). Clinical Phenotype of ASD-associated DYRK1A haploinsufficiency. Molecular Autism<\/em>. 8:54.\u00a0DOI 10.1186\/s13229-017-0173-5. PMID: 29034068.<\/a><\/p>\n

Arnett, AB, Cairney, BE, Wallace, AS, Gerdts J, Turner, TN, Eichler, EE, Bernier, RA. (2017). Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk. Journal of Child Psychology and Psychiatry<\/em>. PMID: 28921525.<\/a><\/p>\n

Krupp, D.R., Barnard, R.A., Duffourd, Y., Evans, S.A., Mulqueen, R.M., Bernier, R., Riviere, JB., Fombonne, E., O’Roak, B.J. (2017). Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder. American Journal of Human Genetics<\/em>, 101(3):369-390. PMID: 28867142.<\/a><\/p>\n

Goin-Kochel, RP, Trinh, S, Hudac, C, Bernier, R. (2017). Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder.\u00a0Journal of Autism and Developmental Disorders<\/em>. Aug 30. PMID:28856484.<\/a><\/p>\n

Ackerman, S., Schoenrbun, S., Hudac, C., Bernier, R. (2017). Interactive Effects of Prenatal Antidepressant Exposure and Likely Gene Disrupting Mutations on the Severity of Autism Spectrum Disorder. Journal of Autism and Developmental Disorders<\/em>. \u00a010.1007\/s10803-017-3246-6<\/a>.<\/p>\n

Geisheker, MR, et. al. (2017) Hotspots of Missense Mutation Identify Neurodevelopmental Disorder Genes and Functional Domains. Nature Neuroscience<\/em>, 20(8) 1043-1051. PMID: 28628100.<\/a><\/p>\n

Hudac, C.M., Stessman, H.A.F., DesChamps, T.D., Kresse, A., Faja, S., Neuhause, E., Webb, S.J., Eichler, E.E.,\u00a0 Bernier, R.A. (2017). Exploring the heterogeneity of neural social indices for genetically-distinct etiologies of autism.\u00a0Journal of Neurodevelopmental Disorders. 9:24. DOI 10.1186\/s11689-017-9199-4<\/em><\/a><\/p>\n

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 Bries, P, Weltman, 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. American Journal of Human Genetics<\/em>. 100(4):650-658. PMID: 28343630.<\/a><\/p>\n

Patowary, A, Nesbitt, R, Archer, M, Bernier, R, Brkanac, Z. (2017). Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder. Autism Research<\/em>, 10 (80):1338-1343. PMID: 28419775.<\/a><\/p>\n

Stessman, H., Xiong, B., Coe, B., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Coseman, N., Vives, L., Lin, J., Turner, T., Santen, G., Ruivenkamp, C., Kriek, M., Haeringen, A., Aten, E., Friend, K., Liebelt, J., Barnett, C., Haan, E., Shaw, M., Gecz, J., Anderlid, B., Nordgren, A., Lindstrand, A., Schwartz, C., Kooy, F., Vandeweyere, G., Helsmoortel, C., Romano, C., Alberti, A., Vinci, M., Avola, E., Giusto, S., Courchesne, E., Pramparo, T., Pierce, K., Nalabolu, S., Amaral, D., Sheffer, I., Delatycki, M., Lockhart, P., Hormozdiari, F., Harich, B., Casells-Nobau, A., Xia, K., Peeters, H., Nordenskjold, M., Schenck, A., Bernier, R. & Eichler, E. (2017). Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases. Nature Genetics, <\/em>49(4) 515-526. PMID: 28191889.<\/em><\/a><\/p>\n

Bernier, R., Hudac, C., Chen, Q., Zeng, C., Wallace, A., Gerdts, J., Earl, R., Berg, J., Wolken, A., Peters, A., Hanson, E., Goin-Kochel, R., Kanne, S., Green-Snyder, L., Chung, W, Simons VIP Consortium (in press). Developmental Trajectories for Young Children with 16p11.2 Copy Number Variation. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics<\/em>, 174(4), 367-380. PMID: 28349640.<\/a><\/p>\n

Bramswig, NC., Ludecke, HJ., Pettersson, M., Albrecht, B., Bernier, R.A., Cremer, K., Eichler, EE., Falkenstein, D., Gerdts, J., Jansen, S., Kuechler, A., Kvarnung, M., Lindstrand, A., Nilsson, D., Nordgren, A., Pfundt, R., Spruijit, L., Surowy, HM., de Vries, BB., Wieland, T., Engels, H., Strom, TM., Kleefstra, T., Wieczorek, D. (2017). Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Human Genetics<\/em>. 136 (2), 179-192.<\/a><\/p>\n

Turner, T., Yi, Q., Krumm, N., Huddleston, J., Stessman, H., Doebley, A., Bernier, R., Nickerson, D., & Eichler, E. (2017). Denovo-db: a Compendium of Human De Novo Variants. Nucleic Acids Research.<\/em> Jan 4;45(D1):D804-D811.<\/a><\/p>\n

2016<\/h4>\n

Rubinstein, M., Patowary, A., Stanaway, I., McCord, E., Nesbitt, R., Archer, M., Scheuer, T., Nickerson, D., Raskind, W., Wijsman, E., Bernier, R., Catterall, W. & Brkanac, Z., (2016). Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism. Molecular Psychiatry.<\/em> Dec 13. doi: 10.1038\/mp.2016.222. [Epub ahead of print]. PMID: 27956748.<\/a><\/p>\n

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, Nordenskj\u00f6ld 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. (2016). Disruption of POGZ is associated with Intellectual Disability and Autism Spectrum Disorders. Am J Hum Genet. 98(3):541-52.<\/a><\/p>\n

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<\/span> Vries PF, Veltman JA, Hoischen A, Gilissen C, de<\/span> Vries BB, Schenck A, Kleefstra T, Vissers LE. (2016). De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophilia. European Journal of Human Genetics. 24 (8): 1145-53.<\/a><\/p>\n

Webb, S., Garrison, M., Bernier, R., McClintic, A., King, B., Mourad, P. (2016). Severity of ASD Symptoms and Their Correlation with the Presence of Copy Number Variations and Exposure to First Trimester Ultrasound.\u00a0Autism Research<\/em>.<\/a><\/p>\n

Bon, B., Coe, B., Bernier, R., Green, C., Gerdts, J., Witherspoon, K., Kleefstra, T., Willemsen, M., Kumar, R., Fichera, M., Li, D., Amaral, D., Cristofoli, F., Peeters, H., Haan, E., Romano, C., Mefford, H., Scheffer, I., Gecz, J., de Vries, B., & Eichler, E. (2016). Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.\u00a0Molecular Psychiatry<\/em>.\u00a021, 126\u2013132\u00a0<\/a><\/p>\n

Green Snyder, L., D’Angelo, D., Chen, Q., Bernier, R., Goin-Kochel, R.P., Wallace, A.S., Gerdts, J., Kanne, S., Berry, L., Blaskey, L., Kuschner, E., Roberts, T., Sherr, E., Martin, C.L., Ledbetter, D.H., Spiro, J.E., Chung, W.K., Hanson, E.; Simons VIP consortium. (2016). Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. Journal of Autism and Developmental Disorders<\/em>, 46<\/em>(8), 2734-48.<\/a><\/p>\n

Faja, S., Dawson, G., Sullivan, K., Estes, A., & Bernier, R. (2016). Executive function predicts the development of play skills for verbal preschoolers with autism spectrum disorders. Autism Research<\/em>. Feb 18. doi: 10.1002\/aur.1608. [Epub ahead of print].<\/a><\/p>\n

Duyzend, M., Nuttle, X., Coe, B., Baker, C., Giannuzzi, G., Reymond, A., Nickerson, D., Bernier, R., Eichler, E., (2016). Maternal modifiers and parent-of-origin biases of the autism 16p11.2 CNV. American Journal of Human Genetics.<\/em> 98<\/em>(1), 45-57.<\/a><\/p>\n

D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Green Snyder, L., Hippolyte, L., Hanson, E., Maillard, A., Faucett, WA., Mac\u00e9, A., Pain, A., Bernier, R., Chawner, S., Albert, D., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., G\u00e9rard, M., Goin-Kochel R., Grant, E., Hunter, J., Isidor, B., Jacquette, A., J\u00f8nch, A., Keren, B., Lacombe, D., Caignec, C., Martin, C., M\u00e4nnik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M., Passeggeri, M., Rooryck, C., Rosenfeld, J., Spence, S., Steinman, K., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E., Ledbetter, D., van den Bree, M., Beckmann, J., Spiro, J., Reymond, A., Jacquemont, S., Chung, W., for the ECHO study, the 16p11.2 European Consortium and the Simons VIP Consortium. (2016). Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities. JAMA Psychiatry<\/em> 73<\/em>(1), 20-30.<\/a><\/p>\n

2015<\/h4>\n

Hippolyte, L., Maillard, A., Rodriguez-Herroros, B., Pain, A., Martin-Brevent, S., Ferrari, C., Conus, P., Mac\u00e9, A., Hadjikhani, N., Metspalu, A., Reigo, A., Kolk, A., Mannik, K., Barker, M., Isidor, B., LeCaignec, C., Mignot, C., Schneider, L., Mottron, L., Keren, Albert, D., Doco-Fenzy, M., G\u00e9rard, M., Bernier, R., Goin-Kochel, R., Hanson, E., Green-Snyder, L., 16p11.2 European Consortium, The Simons VIP\u00a0 Consortium, Ramus, F., Beckmann, J., Draganski, B., Reymond, A., Jacquemont, S. (2015). The number of genomic copies at the 16p11.2 locus modulates language, verbal memory and inhibition. Biological Psychiatry.<\/em> doi: 10.1016\/j.biopsych.2015.10.021. [Epub ahead of print]<\/a><\/p>\n

Hudac, C.M., Kresse, A., Aaronson, B., DesChamps, T.D., Webb, S.J., & Bernier, R.A. (2015). Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications.\u00a0Journal of Neurodevelopmental Disorders<\/em>. 7(1):25<\/a><\/p>\n

Krumm, N., Turner, T.N., Baker, C., Vives, L., Mohajeri, K., Witherspoon, K., Raja, A., Coe, B.P., Stessman, H.A., He, Z., Leal, S.M., Bernier, R., Eichler, E.E. (2015). Excess of rare, inherited truncating mutations in autism.\u00a0Nature Genetics<\/em>. 47(6):582-8<\/a><\/p>\n

Higdon, R., Earl, R., Stanberry, L., Hudac, C., Montague, E., Stewart, E., Janko, I., Choineire, J., Broomall, W., Koler, N., Bernier, R., Kolker, E. (2015). The promise of multi-omics and clinical data integration to identify and target personalized health care approaches in ASD.\u00a0OMICS: A Journal of Integrative Biology.<\/em> 19(4):197-208<\/a><\/p>\n

Upshaw, M., Bernier, R., Sommerville, J. (2015). Infants\u2019 grip strength predicts mu rhythm attenuation during observation of lifting actions with weighted blocks.\u00a0Developmental Science<\/em>. 19(2):195-207<\/a><\/p>\n

Bernier, R.A., Steinman, K.J., Reilly, B., Wallace, A.S., Sherr, E.H., Pojman, N., Mefford, H.C., Gerdts, J., Earl, R., Hanson, E., Goin-Kochel, R., Berry, L., Kanne, S., Green Snyder, L., Spence, S., Ramocki, M.B., Evans, D.W., Spiro, J.E., Martin, C.L., Ledbetter, D.H., & Chung, W.K on behalf of the Simons VIP Consortium (2015). Clinical phenotype of the recurrent 1q21.1 copy-number variant.\u00a0Genetics in Medicine<\/em>.\u00a018(4):341-9<\/a><\/p>\n

Neuhaus, E., Bernier, R., & Beauchaine, T. (2015). Electrodermal Response to Reward and Non-Reward Among Children with Autism.\u00a0Autism Research<\/em>. 8(4):357-70<\/a><\/p>\n

Neuhaus, E., Bernier, R., Beauchaine, T. (2015). Children with Autism Show Altered Autonomic Adaptation to Novel and Familiar Social Partners. Autism Research.<\/em> [Epub ahead of print]. PMID: 26305051<\/a><\/p>\n

Neuhaus, E., Kresse, A., Faja, S., Bernier, R., & Webb, S. (2015). Face processing among twins with and without autism: Social correlates and twin concordance. Social, Cognitive & Affective Neuroscience<\/em>, 11<\/em>(1), 44-54. PMID: 26137974<\/a><\/p>\n

Webb, S., Bernier, R., Henderson, H., Johnson, M., Jones, E., Lerner, M., McPartland, J., Nelson, C., Rojas, D., Townsend, J., & Westerfield, M. (2015). Guidelines and best practices for electrophysiological data collection, analysis and reporting in autism. Journal of Autism and Developmental Disorders. 45<\/em>(2), 277-282. PMID: 239751545.<\/a><\/p>\n

Chapman, N., Nato, A., Bernier, R., Ankeman, K., Sohi, H, Munson, J., Patowary, A., Archer, M., Blue, E., Webb, S., Coon, H., Raskind, W., Brkanac, Z., Wijsman E. (2015). Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes. Human Genetics, 134<\/em>(10), 1055-68.<\/a><\/p>\n

Mazina, V., Gerdts, J., Trinh, S., Ankenman, K., Ward, T., Dennis, M., Girirajan, S., Eichler, E., & Bernier, R. (2015). Epigenetics of autism-related impairment: copy number variation and maternal infection on autism impairment.\u00a0Journal of Developmental and Behavioral Pediatrics<\/em>,\u00a036(2), 61-67.<\/a><\/p>\n

McPartland, J., Bernier, R., & South, M. (2015).\u00a0Realizing the Translational Promise of Psychophysiological Research in ASD.\u00a0Journal of Autism and Developmental Disorders<\/em>, 45(2), 277-282.<\/a><\/p>\n

Nelson, T., Bernier, R., Sheller, B., Clives, F. (2015). Educational and therapeutic behavioral approaches to providing dental care for patients with autism spectrum disorder.\u00a0Special Care in Dentistry<\/em>,35(3):105-13.<\/a><\/p>\n

Naples, A., Nguyen-Phuc, A., Coffman, M., Kresse, A., Faja, S., Bernier, R. & McPartland, J. (2015). A computer-generated animated face stimulus set for psychophysiological research.\u00a0Behavior Research Methods<\/em>. 47(2): 562-70.<\/a><\/p>\n

Moreno-De-Luca, A., Evans, D., Boomer, K., Hanson, E., Bernier, R., Goin-Kochel, R., Myers, S., Challman, T., Moreno-De-Luca, D., Slane, M., Hare, A., Chung, W., Spiro, J., Martin, C. & Ledbetter, D. (2015) Clinical variability in individuals with 16p11.2 deletions is partially explained by parental cognitive, behavioral, and motor profiles.\u00a0JAMA Psychiatry<\/em>, 72(2):119-26.<\/a><\/p>\n

Hanson, E., Bernier, R., Porche, K., Jackson, F., Goin-Kochel, R., Green-Snyder, L., Snow, A., Wallace, A., Campe, K., Zang, Y., Chen, Q., D\u2019Angelo, D., Moreno-De-Luca, A., Orr, P., Boomer, K., Evans, D., Kanne, S., Berry, L., Miller, F., Olson, J., Martin, C., Ledbetter, D., Spiro, J., Chung, W. & Simons VIP Consortium (2015). The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.\u00a0Biological Psychiatr<\/em>y, 77(9):785-93.<\/a><\/p>\n

2014<\/h4>\n

O\u2019Roak, B., Stessman, H., Boyle, E., Witherspoon, K., Martin, B., Lee, C., Vives, L., Baker, C., Hiatt, J., Nickerson, D. Bernier, R., Shendure, J., Eichler, E. (2014). Recurrent de novo mutations implicate novel genes underlying simplex autism risk.\u00a0NatureCommunication<\/em>, 5, 5595.<\/a><\/p>\n

Deriziotis, P., O\u2019Roak, B., Graham, S., Estruch, S., Dimitropoulou, D., Bernier, R., Gerdts, J., Shendure, J., Eichler, E., & Fisher, S. (2014). De novo TBR1 mutations in sporadic autism disrupt protein functions.\u00a0Nature Communications<\/em>, Sep 18;5:4954.<\/a><\/p>\n

Vandeweyer, G., Helsmoortel, C., Van Dijck, A., Vulto-van Silfhout, A., Coe, B., Bernier, R., Gerdts, J., Rooms, L., van den Ende, J., Bakshi, M., Wilson, M., Nordgren, A., Hendon, L., Abdulrahman, O., Romano, C., de Vries, B., Kleefstra, T., Eichler, E., Van der Aa, N. & Kooy, F. (2014). The transcriptional regulator ADNP links the BAF (SWI\/SNF) complexes with autism.\u00a0American Journal of Medical Genetics\u00a0Part C:<\/em> Seminars in Medical Genetics<\/em>, 66(3), 315-26.<\/a><\/p>\n

Bernier, R., Golzio, C., Xiong, B., Stessman, H., Coe, B., Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-van Silfhout, A., Schuurs-Hoeijmakers, J., Fichera, M., Bosco, P., Buono, S., Alberti, A., Failla, P., Peeters, H., Steyaert, J., Vissers, L., Francescatto, L., Mefford, H., Rosenfeld, J., Bakken, T., O\u2019Roak, B., Pawlus, M., Moon, R., Shendure, J., Amaral, D., Lein, E., Rankin, J., Romano, C., de Vries, B., Katsanis, N., Eichler, E. (2014). Disruptive CHD8 mutations define a subtype of autism early in development.Cell<\/em>, 158, 263-76<\/a><\/p>\n

Pinto et al. (2014). Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders.\u00a0American Journal of Human Genetics<\/em>, 94, 677-94.<\/a><\/p>\n

Buxbaum, J., Bolshakova, N., Brownfeld, J., Anney, R., Bender, P., Bernier, R., Cook, E., Coon, H., Cuccaro, M., Freitag, C., Hallmayer, J., Geshwind, D., Klauck, S., Lehner, T., Nurnberger, J., Oliveira, G., Pinto, D., Poustka, F., Scherer, S., Shih, A., Sutcliffe, J., Szatmari, P., Vicente, A., Vieland, V. & Gallagher, L. (2014). The Autism Simplex Collection: An international, expertly phenotyped autism sample for genetic and phenotypic analyses.\u00a0Molecular Autism<\/em>, 5,\u00a034.<\/a><\/p>\n

Ackerman, S. Wenegrat, J., Althoff, B., Rettew, R. & Bernier, R. (2014). No increase in autism associated genetic events in children conceived by assisted reproductive technology.\u00a0Fertility & Sterility<\/em>, 102, 388-93<\/a><\/p>\n

Bernier, R., Aaronson, B., Kresse, A. (2014). EEG Mu Rhythm in Typical and Atypical Development.\u00a0Journal of Visualized Experimentation<\/em>, (86).<\/a><\/p>\n

Stessman, H., Bernier, R., Eichler, E. (2014). A Genotype-First Approach to Defining the Subtypes of a Complex Disease.\u00a0Cell<\/em>, 156(5):872-7.<\/a><\/p>\n

King, B., Navot, N., Bernier, R., Webb, S. (2014). Update on diagnostic classification in autism.\u00a0Current Opinion in Psychiatry<\/em>, 27, 105-109.<\/a><\/p>\n

Ankenman, K., Elgin, J., Sullivan, K., Vincent, L, & Bernier, R. (2014). Nonverbal and verbal cognitive discrepancy profiles in autism spectrum disorders: Influence of age and gender.\u00a0American Journal on Intellectual and Developmental Disabilities<\/em>, 119, 84-99.<\/a><\/p>\n

2013<\/h4>\n

Webb, S., Bernier, R., Henderson, H., Johnson, M., Jones, E., Lerner, M., McPartland, J., Nelson, C., Rojas, D., Townsend, J., & Westerfield, M. (2013). Guidelines and best practices for electrophysiological data collection, analysis and reporting in autism.Journal of Autism and Developmental Disorders. Aug 22.<\/p>\n

Krumm, N., O\u2019Roak, B., Karakoc, E., Mohajeri, K., Nelson, B., Vives, L., Jacquemont, S., Bernier, R., Eichler, E. (2013). Transmission distortion of small CNVs in sporadic autism.\u00a0American Journal of Human Genetics, 93, 595-606.<\/p>\n

Neuhaus, E., Bernier, R., & Beauchaine, T. (2013). Social skills, Internalizing and Externalizing Symptoms, and Respiratory Sinus Arrhythmia in Autism.\u00a0Journal of Autism and Developmental Disorders. Aug 28.<\/p>\n

Dawson, G. & Bernier, R. (2013). A quarter century of progress in the detection and early treatment of autism spectrum disorder.\u00a0Development and Psychopathology, 25, 1455-1472.<\/p>\n

Bernier, R., Aaronson, B. & McPartland, J. (2013). The role of imitation in the observed heterogeneity in EEG mu rhythm in Autism Spectrum Disorders.\u00a0Brain and Cognition, 82, 69-75.<\/p>\n

Marchani, E., Chapman, N., Cheung, C., Ankenman, K., Coon, H., Nickerson, D., Bernier, R., Brkanac, Z., Wijsman, E., (2013). Identification of rare variants from exome sequence in a large pedigree with autism.\u00a0Human Heredity, 74, 153-164.<\/p>\n

Girirajan, S., Dennis, M., Baker, C., Malig, M., Coe, B., Campbell, C., Mark, K., Vu, T., Alkan, C., Cheng, Z., Biesecker, L., Bernier, R., & Eichler, E. (2013). Refinement and discovery of new hotspots of copy number variation associated with autism spectrum disorder.\u00a0American Journal of Human Genetics, 92, 221-237.<\/p>\n

2012<\/h4>\n

O\u2019Roak,\u00a0B., Vives, L., Fu, W., Egertson, J., Stanaway, I., Phelps, I., Carvill, G., Kumar, A., Lee, C., Ankenman, K., Munson, J., Hiatt, J., Turner, E., Levy,\u00a0R., O\u2019Day, D., Krumm, N., Coe, B., Martin, B., Borenstein, E., Nickerson, D., Mefford,\u00a0H., Doherty, D., Akey, J., Bernier, R., Eichler, E. & Shendure,\u00a0J. (2012). Multiplex Targeted Sequencing Identifies Genes Recurrently Disrupted in Autism Spectrum Disorders. Science, 338, 1619-1622.\u00a0PMID:23160955<\/a><\/p>\n

Gerdts, J., Bernier, R., Dawson, G., & Estes, A. (2012). The Broader Autism Phenotype in Simplex and Multiplex Families.\u00a0Journal of Autism and Developmental Disorders, 43, 1597-1605.<\/p>\n

Zufferey, F.; Sherr, E.; Beckmann, N.; Hanson, E.; Maillard, A.; Hippolyte, L.; Mac\u00e9, A.; Ferrari, C.; Kutalik, Z.; Andrieux, J.; Aylward, E.; Barker, M.; Bernier, R.; Bouquillon, S.; Conus, P.; Delobel, B.; Faucett, W.A.; Goin-Kochel, R.; Grant, E.; Harewood, L.; Hunter, J.; Lebon, S.; Ledbetter, D.; Martin, C.; Mannik, K.; Martinet, D.; Mukherjee, P.; Ramocki, M.; Spence, S.; Steinman, K.; Tjernagel, J.; on behalf of the Simons VIP Consortium; on behalf of the 16p11.2 European Consortium, Spiro, J.; Reymond, A.; Beckmann, J.; Chung, W. & Jacquemont, S. (2012). A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.\u00a0American Journal of Medical Genetics, 49, 660-668.<\/p>\n

Dawson, G., Bernier, R. Ring, R. (2012). Social attention: A possible early response indicator in autism clinical trials.\u00a0Journal of Neurodevelopmental Disorders, 4, 11-35.<\/p>\n

O’Roak, B., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B., Levy, R., Ko, A., Lee, C., Smith, J., Turner, E., Stanaway, I., Vernot, B., Malig, M., Baker, C., Reilly, B., Akey, J., Borenstein, E., Rieder, M., Nickerson, D., Bernier, R., Shendure, J. & Eichler, EE. (2012). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.\u00a0Nature, 485, 246-50. PMID: 22456743.<\/a><\/p>\n

The Simons VIP Consortium (2012). Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.\u00a0Neuron, 73, 1063-1067. PMID: 22445335.<\/p>\n

Ackerman, S., Reilly, B. & Bernier, R. (2012). Tympanostomy Tube Placement in Children with Autism.\u00a0Journal of Developmental and Behavioral Pediatrics, 33, 252-258. PMID: 22343482.<\/p>\n

Oberman, L., McCleery, J., Hubbard, E., Bernier, R. & Pineda, J. (2012). Developmental changes in mu suppression to observed actions in individuals with autism spectrum disorders.\u00a0Social, Cognitive, Affective Neuroscience. Epub ahead of print. PMID: 22302843.<\/p>\n

2011<\/h4>\n

Gerdts, J. & Bernier, R. (2011). The broader autism phenotype and its implications on the etiology and treatment of autism spectrum disorders.\u00a0Autism Research and Treatment.<\/p>\n

Girirajan, S., Brkanac, Z., Coe, B., Baker, C., Vives, L. Vu, T., Shafer, N., Bernier, R., Ferrero, G., Silengo, M., Warren, S., Moreno, C., Fichera, M., Romano, C., Raskind, W. & Eichler, E. (2011). Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes.\u00a0\u00a0PLoS Genetics, Nov, 7 (11): e1002334. PMID: 22102821.<\/p>\n

Chen, Y., Matsushita, M., Girirajan, S., Lisowski, M., Sun, E., Sul, Y., Bernier, R., Estes, A., Dawson, G., Minshew, N., Shellenberg, G., Eichler, E., Rieder, M., Nickerson, D., Tsuang, D., Tsuang, M., Wijsman, E., Raskind, W. & Brkanac, Z. (2011). Further Evidence for Association of GNB1L with Neurodevelopmental Disorders.\u00a0American Journal of Medical Genetics\u00a0Part B: Neuropsychiatric Genetics, 159B, 61-71. PMID: 22095694<\/p>\n

Lord, C., Petkova, E., Hus, V., Gan, W., Martin, D.M., Ousley, O., Guy, L., Bernier, R., et al. (2011).\u00a0 A multi-site study of the clinical diagnosis of different autism spectrum disorders.\u00a0Archives of General Psychiatry. PMID: 22065253<\/p>\n

Bernier, R., Gerdts, J., Munson, J., Dawson, G., Estes, A (2011).\u00a0 The broader autism phenotype in multiplex, simplex, developmental delay and neurotypical families: Further validation of the Broader Phenotype Autism Symptom Scale.\u00a0Autism Research. PMID: 21905246<\/p>\n

O\u2019Roak, B., Derizioti, P., Lee, C., Vives, L., Schwartz, J., Girirajan, S., Karakoc, E., MacKenzie, A., Ng, S., Baker, C., Rieder, M., Nickerson, D., Bernier, R., Fisher, S., Shendure, J. & Eichler, E. (2011). Exome sequencing in sporadic autism reveals severe de novo mutations.\u00a0Nature Genetics, 43, 585-589.\u00a0PMID: 21572417<\/p>\n

Chapman, N., Estes, A., Munson, J., Bernier, R., Webb, S., Rothstein, J., Minshew, N., Dawson, G., Schellenberg, G., Wijsman, E. (2011). Discrepancy between performance and verbal IQ:\u00a0 a quantitative autism endophenotype with strong evidence for loci on chromosomes 10 and 16.\u00a0Human Genetics, 129, 59-70. PMID: 20963441<\/p>\n

Prior to 2010<\/h4>\n

Neuhaus, E., Beauchaine, T., & Bernier, R. (2010). Neurobiological Correlates of Social Functioning in Autism.\u00a0Developmental Psychology, 30, 733-748. PMID: 20570622<\/p>\n

Bernier, R., Mao, A. & Yen, J. (2010). Psychopathology, Families, and Culture: Autism.\u00a0Child and Adolescent Psychiatric Clinics,\u00a019.\u00a0855-867. PMID: 21056350<\/p>\n

Wang, K., et al. (2009). Common genetic variation in the intergenic region between CDH10 and CDH9 is associated with susceptibility to autism spectrum disorders.\u00a0Nature, 459(7246), 528-33. PMID: 19404256<\/p>\n

Glessner, J., et al. (2009). Autism genome wide copy number variation reveals ubiquitin and neuronal genes.\u00a0Nature, 459(7246), 569-73. PMID: 19404257<\/p>\n

Faja, S., Aylward, E., Bernier, R. & Dawson, G. (2008). Becoming a face expert: A computerized face-training program for high functioning individuals with autism spectrum disorders.\u00a0Behavioral Neuropsychology, 33, 1-24. PMID: 18443967<\/p>\n

Bernier, R., Dawson, G., Webb, S. & Murias, M. (2007). EEG mu rhythm and imitation impairments in individuals with autism spectrum disorder.\u00a0Brain and Cognition, 64, 228-237. PMID: 17451856<\/p>\n

Webb, S., Dawson, G., Bernier, R., & Panagiotides, H. (2007). ERP evidence of atypical face processing in young children with autism.\u00a0Journal of Autism and Developmental Disorders, 36, 881-890. PMID: 16897400<\/p>\n

Dawson, G., Estes, A., Munson, J., Schellenberg, G., Bernier, R., Abbott, R., & Wijsman, E. (2007). Quantitative Assessment of Autism Symptoms in Autism Probands and Family Members: Broader Phenotype Autism Symptom Scale.\u00a0Journal of Autism and Developmental Disorders, 37, 523-536.\u00a0PMID: 16868845<\/p>\n

Molloy, C. A., Morrow, A. L., Meinzen-Derr, J., Dawson, G., Bernier, R., Dunn, M., et al. (2006).\u00a0 Familial Autoimmunity as a Risk Factor for Regression in Children with Autism Spectrum Disorder. Journal of Autism and Developmental Disorders, 36,\u00a0317-324.\u00a0PMID: 16598435<\/p>\n

Richler, J., Luyster, R., Risi, S., Hsu, W. L., Dawson, G., Bernier, R., et al. (2006). Is there a regressive “phenotype” of Autism Spectrum Disorder associated with the measles-mumps-rubella vaccine? A CPEA study. Journal of Autism and Developmental Disorders, 36, 299-316.\u00a0PMID: 16729252<\/p>\n

Bernier, R., Dawson, G., Panagiotides, H., & Webb, S. (2005). Individuals with autism spectrum disorder show normal responses to a fear potential startle paradigm.\u00a0Journal of Autism and Developmental Disorders, 35, 575-583.\u00a0PMID: 16167091<\/p>\n

Luyster, R., Richler, J., Risi, S., Hsu, W., Dawson, G., Bernier, R., et al. (2005). Early Regression in Social Communication in Autistic Spectrum Disorders: A CPEA study.Developmental Neuropsychology, 27,\u00a0311-36.\u00a0PMID: 15843100<\/p>\n<\/div>\n<\/div>\n<\/div>\n

<\/div>\n<\/div>\n
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2022 Mitchel MW, Myers SM, Heidlebaugh AR, Taylor CM, Rea H, Neuhaus E, Kurtz-Nelson EC, Earl R, Bernier R, Ledbetter DH, Martin CL, Eichler EE. CHD8-Related Neurodevelopmental Disorder with Overgrowth. 2022 Oct 27. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of … Continue reading Publications<\/span> →<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"parent":962,"menu_order":4,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-35","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/pages\/35","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/comments?post=35"}],"version-history":[{"count":52,"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/pages\/35\/revisions"}],"predecessor-version":[{"id":1921,"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/pages\/35\/revisions\/1921"}],"up":[{"embeddable":true,"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/pages\/962"}],"wp:attachment":[{"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/media?parent=35"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}