Publications

2017

Earl, RK, Turner, TN, Mefford, HC, Hudac, CM, Gerdts, J, Eicherler, EE, Bernier, RA. (2017). Clinica Phenotype of ASD-associated DYRK1A haploinsufficiency. Molecular Autism. 8:54. DOI 10.1186/s13229-017-0173-5

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. J Child Psychol Psychiatry.

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. The Journal of Human Genetics.

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.  10.1007/s10803-017-3246-6

Geisheker, MR, et. al. (2017) Hotspots of Missense Mutation Identify Neurodevelopmental Disorder Genes and Functional Domains. Aug, 20(8) 1043-1051, doi:10.1038/nn.4589

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

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.

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.

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. 136 (2), 179-192.

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. Jan 4;45(D1):D804-D811.

2016

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. Dec 13. doi: 10.1038/mp.2016.222. [Epub ahead of print]. PMID: 27956748.

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. (2016). Disruption of POGZ is associated with Intellectual Disability and Autism Spectrum Disorders. Am J Hum Genet. 98(3):541-52.

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. (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.

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. Autism Research.

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. Molecular Psychiatry. 21, 126–132 

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, 46(8), 2734-48.

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. Feb 18. doi: 10.1002/aur.1608. [Epub ahead of print].

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. 98(1), 45-57.

D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Green Snyder, L., Hippolyte, L., Hanson, E., Maillard, A., Faucett, WA., Macé, A., Pain, A., Bernier, R., Chawner, S., Albert, D., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gérard, M., Goin-Kochel R., Grant, E., Hunter, J., Isidor, B., Jacquette, A., Jønch, A., Keren, B., Lacombe, D., Caignec, C., Martin, C., Männik, 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 73(1), 20-30.

2015

Hippolyte, L., Maillard, A., Rodriguez-Herroros, B., Pain, A., Martin-Brevent, S., Ferrari, C., Conus, P., Macé, 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., Gérard, M., Bernier, R., Goin-Kochel, R., Hanson, E., Green-Snyder, L., 16p11.2 European Consortium, The Simons VIP  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. doi: 10.1016/j.biopsych.2015.10.021. [Epub ahead of print]

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. Journal of Neurodevelopmental Disorders. 7(1):25

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. Nature Genetics. 47(6):582-8

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. OMICS: A Journal of Integrative Biology. 19(4):197-208

Upshaw, M., Bernier, R., Sommerville, J. (2015). Infants’ grip strength predicts mu rhythm attenuation during observation of lifting actions with weighted blocks. Developmental Science. 19(2):195-207

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. Genetics in Medicine. 18(4):341-9

Neuhaus, E., Bernier, R., & Beauchaine, T. (2015). Electrodermal Response to Reward and Non-Reward Among Children with Autism. Autism Research. 8(4):357-70

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

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, 11(1), 44-54. PMID: 26137974

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(2), 277-282. PMID: 239751545.

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(10), 1055-68.

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. Journal of Developmental and Behavioral Pediatrics, 36(2), 61-67.

McPartland, J., Bernier, R., & South, M. (2015). Realizing the Translational Promise of Psychophysiological Research in ASD. Journal of Autism and Developmental Disorders, 45(2), 277-282.

Nelson, T., Bernier, R., Sheller, B., Clives, F. (2015). Educational and therapeutic behavioral approaches to providing dental care for patients with autism spectrum disorder. Special Care in Dentistry,35(3):105-13.

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. Behavior Research Methods. 47(2): 562-70.

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. JAMA Psychiatry, 72(2):119-26.

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’Angelo, 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. Biological Psychiatry, 77(9):785-93.

2014

O’Roak, 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. NatureCommunication, 5, 5595.

Deriziotis, P., O’Roak, 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. Nature Communications, Sep 18;5:4954.

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. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 66(3), 315-26.

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’Roak, 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, 158, 263-76

Pinto et al. (2014). Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders. American Journal of Human Genetics, 94, 677-94.

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. Molecular Autism, 5, 34.

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. Fertility & Sterility, 102, 388-93

Bernier, R., Aaronson, B., Kresse, A. (2014). EEG Mu Rhythm in Typical and Atypical Development. Journal of Visualized Experimentation, (86).

Stessman, H., Bernier, R., Eichler, E. (2014). A Genotype-First Approach to Defining the Subtypes of a Complex Disease. Cell, 156(5):872-7.

King, B., Navot, N., Bernier, R., Webb, S. (2014). Update on diagnostic classification in autism. Current Opinion in Psychiatry, 27, 105-109.

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. American Journal on Intellectual and Developmental Disabilities, 119, 84-99.

2013

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.

Krumm, N., O’Roak, B., Karakoc, E., Mohajeri, K., Nelson, B., Vives, L., Jacquemont, S., Bernier, R., Eichler, E. (2013). Transmission distortion of small CNVs in sporadic autism. American Journal of Human Genetics, 93, 595-606.

Neuhaus, E., Bernier, R., & Beauchaine, T. (2013). Social skills, Internalizing and Externalizing Symptoms, and Respiratory Sinus Arrhythmia in Autism. Journal of Autism and Developmental Disorders. Aug 28.

Dawson, G. & Bernier, R. (2013). A quarter century of progress in the detection and early treatment of autism spectrum disorder. Development and Psychopathology, 25, 1455-1472.

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

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. Human Heredity, 74, 153-164.

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. American Journal of Human Genetics, 92, 221-237.

2012

O’Roak, B., 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, R., O’Day, D., Krumm, N., Coe, B., Martin, B., Borenstein, E., Nickerson, D., Mefford, H., Doherty, D., Akey, J., Bernier, R., Eichler, E. & Shendure, J. (2012). Massively Multiplex Targeted Sequencing Identifies Genes Recurrently Disrupted in Autism Spectrum Disorders.Science, 338, 1619-1622.

Gerdts, J., Bernier, R., Dawson, G., & Estes, A. (2012). The Broader Autism Phenotype in Simplex and Multiplex Families. Journal of Autism and Developmental Disorders, 43, 1597-1605.

Zufferey, F.; Sherr, E.; Beckmann, N.; Hanson, E.; Maillard, A.; Hippolyte, L.; Macé, 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. American Journal of Medical Genetics, 49, 660-668.

Dawson, G., Bernier, R. Ring, R. (2012). Social attention: A possible early response indicator in autism clinical trials. Journal of Neurodevelopmental Disorders, 4, 11-35.

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. Nature, 485, 246-50. PMID: 22456743.

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

Ackerman, S., Reilly, B. & Bernier, R. (2012). Tympanostomy Tube Placement in Children with Autism. Journal of Developmental and Behavioral Pediatrics, 33, 252-258. PMID: 22343482.

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. Social, Cognitive, Affective Neuroscience. Epub ahead of print. PMID: 22302843.

2011

Gerdts, J. & Bernier, R. (2011). The broader autism phenotype and its implications on the etiology and treatment of autism spectrum disorders. Autism Research and Treatment.

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.  PLoS Genetics, Nov, 7 (11): e1002334. PMID: 22102821.

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. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B, 61-71. PMID: 22095694

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

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

O’Roak, 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. Nature Genetics, 43, 585-589. PMID: 21572417

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:  a quantitative autism endophenotype with strong evidence for loci on chromosomes 10 and 16. Human Genetics, 129, 59-70. PMID: 20963441

Prior to 2010

Neuhaus, E., Beauchaine, T., & Bernier, R. (2010). Neurobiological Correlates of Social Functioning in Autism. Developmental Psychology, 30, 733-748. PMID: 20570622

Bernier, R., Mao, A. & Yen, J. (2010). Psychopathology, Families, and Culture: Autism. Child and Adolescent Psychiatric Clinics, 19. 855-867. PMID: 21056350

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

Glessner, J., et al. (2009). Autism genome wide copy number variation reveals ubiquitin and neuronal genes. Nature, 459(7246), 569-73. PMID: 19404257

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. Behavioral Neuropsychology, 33, 1-24. PMID: 18443967

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

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

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