Works by Bernier, Raphael

Results: 115
    1

    Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants.

    Published in:
    Autism Research: Official Journal of the International Society for Autism Research, 2025, v. 18, n. 5, p. 909, doi. 10.1002/aur.3202
    By:
    • Hudac, Caitlin M.;
    • Dommer, Kelsey;
    • Mahony, Monique;
    • DesChamps, Trent D.;
    • Cairney, Brianna;
    • Earl, Rachel;
    • Kurtz‐Nelson, Evangeline C.;
    • Bradshaw, Jessica;
    • Bernier, Raphael A.;
    • Eichler, Evan E.;
    • Neuhaus, Emily;
    • Webb, Sara Jane;
    • Shic, Frederick
    Publication type:
    Article
    2

    A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder.

    Published in:
    Autism Research: Official Journal of the International Society for Autism Research, 2025, v. 18, n. 5, p. 898, doi. 10.1002/aur.3193
    By:
    • Arutiunian, Vardan;
    • Santhosh, Megha;
    • Neuhaus, Emily;
    • Sullivan, Catherine A. W.;
    • Bernier, Raphael A.;
    • Bookheimer, Susan Y.;
    • Dapretto, Mirella;
    • Geschwind, Daniel H.;
    • Jack, Allison;
    • McPartland, James C.;
    • Van Horn, John D.;
    • Pelphrey, Kevin A.;
    • Gupta, Abha R.;
    • Webb, Sara Jane
    Publication type:
    Article
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    Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.

    Published in:
    Journal of Autism & Developmental Disorders, 2016, v. 46, n. 8, p. 2734, doi. 10.1007/s10803-016-2807-4
    By:
    • Green Snyder, LeeAnne;
    • D'Angelo, Debra;
    • Chen, Qixuan;
    • Bernier, Raphael;
    • Goin-Kochel, Robin;
    • Wallace, Arianne;
    • Gerdts, Jennifer;
    • Kanne, Stephen;
    • Berry, Leandra;
    • Blaskey, Lisa;
    • Kuschner, Emily;
    • Roberts, Timothy;
    • Sherr, Elliot;
    • Martin, Christa;
    • Ledbetter, David;
    • Spiro, John;
    • Chung, Wendy;
    • Hanson, Ellen
    Publication type:
    Article
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    Is There a ‘Regressive Phenotype’ of Autism Spectrum Disorder Associated with the Measles-Mumps-Rubella Vaccine? A CPEA Study.

    Published in:
    Journal of Autism & Developmental Disorders, 2006, v. 36, n. 3, p. 299, doi. 10.1007/s10803-005-0070-1
    By:
    • Richler, Jennifer;
    • Luyster, Rhiannon;
    • Risi, Susan;
    • Wan-Ling Hsu;
    • Dawson, Geraldine;
    • Bernier, Raphael;
    • Dunn, Michelle;
    • Hepburn, Susan;
    • Hyman, Susan L.;
    • McMahon, William M.;
    • Goudie-Nice, Julie;
    • Minshew, Nancy;
    • Rogers, Sally;
    • Sigman, Marian;
    • Spence, M. Anne;
    • Goldberg, Wendy A.;
    • Tager-Flusberg, Helen;
    • Volkmar, Fred R.;
    • Lord, Catherine
    Publication type:
    Article
    14

    Familial Autoimmune Thyroid Disease as a Risk Factor for Regression in Children with Autism Spectrum Disorder: A CPEA Study.

    Published in:
    Journal of Autism & Developmental Disorders, 2006, v. 36, n. 3, p. 317, doi. 10.1007/s10803-005-0071-0
    By:
    • Molloy, Cynthia A.;
    • Morrow, Ardythe L.;
    • Meinzen-Derr, Jareen;
    • Dawson, Geraldine;
    • Bernier, Raphael;
    • Dunn, Michelle;
    • Hyman, Susan L.;
    • McMahon, William M.;
    • Goudie-Nice, Julie;
    • Hepburn, Susan;
    • Minshew, Nancy;
    • Rogers, Sally;
    • Sigman, Marian;
    • Spence, M. Anne;
    • Tager-Flusberg, Helen;
    • Volkmar, Fred R.;
    • Lord, Catherine
    Publication type:
    Article
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    The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

    Published in:
    Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02189-1
    By:
    • Dingemans, Alexander J. M.;
    • Truijen, Kim M. G.;
    • van de Ven, Sam;
    • Bernier, Raphael;
    • Bongers, Ernie M. H. F.;
    • Bouman, Arjan;
    • de Graaff – Herder, Laura;
    • Eichler, Evan E.;
    • Gerkes, Erica H.;
    • De Geus, Christa M.;
    • van Hagen, Johanna M.;
    • Jansen, Philip R.;
    • Kerkhof, Jennifer;
    • Kievit, Anneke J. A.;
    • Kleefstra, Tjitske;
    • Maas, Saskia M.;
    • de Man, Stella A.;
    • McConkey, Haley;
    • Patterson, Wesley G.;
    • Dobson, Amy T.
    Publication type:
    Article
    19

    Clinician–caregiver informant discrepancy is associated with sex, diagnosis age, and intervention use among autistic children.

    Published in:
    Autism: The International Journal of Research & Practice, 2025, v. 29, n. 3, p. 614, doi. 10.1177/13623613241279999
    By:
    • Azu, Margaret A.;
    • Han, Gloria T.;
    • Wolf, Julie M.;
    • Naples, Adam J.;
    • Chawarska, Katarzyna;
    • Dawson, Geraldine;
    • Bernier, Raphael A.;
    • Jeste, Shafali S.;
    • Dziura, James D.;
    • Webb, Sara J.;
    • Sugar, Catherine A.;
    • Shic, Frederick;
    • McPartland, James C.
    Publication type:
    Article
    20

    Concomitant medication use in children with autism spectrum disorder: Data from the Autism Biomarkers Consortium for Clinical Trials.

    Published in:
    Autism: The International Journal of Research & Practice, 2023, v. 27, n. 4, p. 952, doi. 10.1177/13623613221121425
    By:
    • Shurtz, Logan;
    • Schwartz, Chloe;
    • DiStefano, Charlotte;
    • McPartland, James C;
    • Levin, April R;
    • Dawson, Geraldine;
    • Kleinhans, Natalia M;
    • Faja, Susan;
    • Webb, Sara J;
    • Shic, Frederick;
    • Naples, Adam J;
    • Seow, Helen;
    • Bernier, Raphael A;
    • Chawarska, Katarzyna;
    • Sugar, Catherine A;
    • Dziura, James;
    • Senturk, Damla;
    • Santhosh, Megha;
    • Jeste, Shafali S
    Publication type:
    Article
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    Resting state EEG in youth with ASD: age, sex, and relation to phenotype.

    Published in:
    Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09390-1
    By:
    • Neuhaus, Emily;
    • Lowry, Sarah J.;
    • Santhosh, Megha;
    • Kresse, Anna;
    • Edwards, Laura A.;
    • Keller, Jack;
    • Libsack, Erin J.;
    • Kang, Veronica Y.;
    • Naples, Adam;
    • Jack, Allison;
    • Jeste, Shafali;
    • McPartland, James C.;
    • Aylward, Elizabeth;
    • Bernier, Raphael;
    • Bookheimer, Susan;
    • Dapretto, Mirella;
    • Van Horn, John D.;
    • Pelphrey, Kevin;
    • Webb, Sara Jane
    Publication type:
    Article
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    Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 585, doi. 10.1038/ng.835
    By:
    • O'Roak, Brian J.;
    • Deriziotis, Pelagia;
    • Lee, Choli;
    • Vives, Laura;
    • Schwartz, Jerrod J.;
    • Girirajan, Santhosh;
    • Karakoc, Emre;
    • MacKenzie, Alexandra P.;
    • Ng, Sarah B.;
    • Baker, Carl;
    • Rieder, Mark J.;
    • Nickerson, Deborah A.;
    • Bernier, Raphael;
    • Fisher, Simon E.;
    • Shendure, Jay;
    • Eichler, Evan E.
    Publication type:
    Article
    28

    Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes.

    Published in:
    PLoS Genetics, 2011, v. 7, n. 11, p. 1, doi. 10.1371/journal.pgen.1002334
    By:
    • Girirajan, Santhosh;
    • Brkanac, Zoran;
    • Coe, Bradley P.;
    • Baker, Carl;
    • Vives, Laura;
    • Vu, Tiffany H.;
    • Shafer, Neil;
    • Bernier, Raphael;
    • Ferrero, Giovanni B.;
    • Silengo, Margherita;
    • Warren, Stephen T.;
    • Moreno, Carlos S.;
    • Fichera, Marco;
    • Romano, Corrado;
    • Raskind, Wendy H.;
    • Eichler, Evan E.
    Publication type:
    Article
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    Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

    Published in:
    2016
    By:
    • D'Angelo, Debra;
    • Lebon, Sébastien;
    • Qixuan Chen;
    • Martin-Brevet, Sandra;
    • Green Snyder, LeeAnne;
    • Hippolyte, Loyse;
    • Hanson, Ellen;
    • Maillard, Anne M.;
    • Andrew Faucett, W.;
    • Macé, Aurélien;
    • Pain, Aurélie;
    • Bernier, Raphael;
    • Chawner, Samuel J. R. A.;
    • David, Albert;
    • Andrieux, Joris;
    • Aylward, Elizabeth;
    • Baujat, Genevieve;
    • Caldeira, Ines;
    • Conus, Philippe;
    • Ferrari, Carrina
    Publication type:
    journal article
    31

    The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions.

    Published in:
    JAMA Psychiatry, 2015, v. 72, n. 2, p. 119, doi. 10.1001/jamapsychiatry.2014.2147
    By:
    • Moreno-De-Luca, Andres;
    • Evans, David W.;
    • Boomer, K. B.;
    • Hanson, Ellen;
    • Bernier, Raphael;
    • Goin-Kochel, Robin P.;
    • Myers, Scott M.;
    • Challman, Thomas D.;
    • Moreno-De-Luca, Daniel;
    • Slane, Mylissa M.;
    • Hare, Abby E.;
    • Chung, Wendy K.;
    • Spiro, John E.;
    • Faucett, W. Andrew;
    • Martin, Christa L.;
    • Ledbetter, David H.
    Publication type:
    Article
    32

    Neural responsivity to social rewards in autistic female youth.

    Published in:
    Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0824-8
    By:
    • Lawrence, Katherine E.;
    • Hernandez, Leanna M.;
    • Eilbott, Jeffrey;
    • Jack, Allison;
    • Aylward, Elizabeth;
    • Gaab, Nadine;
    • Van Horn, John D.;
    • Bernier, Raphael A.;
    • Geschwind, Daniel H.;
    • McPartland, James C.;
    • Nelson, Charles A.;
    • Webb, Sara J.;
    • Pelphrey, Kevin A.;
    • Bookheimer, Susan Y.;
    • Dapretto, Mirella;
    • on behalf of the GENDAAR Consortium;
    • Ankenman, Katy;
    • Corrigan, Sarah;
    • Depedro-Mercier, Dianna;
    • Guilford, Desiree
    Publication type:
    Article
    33

    Imaging-genetics of sex differences in ASD: distinct effects of OXTR variants on brain connectivity.

    Published in:
    Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0750-9
    By:
    • Hernandez, Leanna M.;
    • Lawrence, Katherine E.;
    • Padgaonkar, N. Tanya;
    • Inada, Marisa;
    • Hoekstra, Jackson N.;
    • Lowe, Jennifer K.;
    • Eilbott, Jeffrey;
    • Jack, Allison;
    • Aylward, Elizabeth;
    • Gaab, Nadine;
    • Van Horn, John D.;
    • Bernier, Raphael A.;
    • McPartland, James C.;
    • Webb, Sara J.;
    • Pelphrey, Kevin A.;
    • Green, Shulamite A.;
    • Geschwind, Daniel H.;
    • Bookheimer, Susan Y.;
    • Dapretto, Mirella
    Publication type:
    Article
    34

    Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.

    Published in:
    Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0441-6
    By:
    • Niarchou, Maria;
    • Chawner, Samuel J. R. A.;
    • Doherty, Joanne L.;
    • Maillard, Anne M.;
    • Jacquemont, Sébastien;
    • Chung, Wendy K.;
    • Green-Snyder, LeeAnne;
    • Bernier, Raphael A.;
    • Goin-Kochel, Robin P.;
    • Hanson, Ellen;
    • Linden, David E. J.;
    • Linden, Stefanie C.;
    • Raymond, F. Lucy;
    • Skuse, David;
    • Hall, Jeremy;
    • Owen, Michael J.;
    • van den Bree, Marianne B. M.
    Publication type:
    Article
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    Psychiatric disorders in children with 16p11.2 deletion and duplication.

    Published in:
    Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-018-0339-8
    By:
    • Niarchou, Maria;
    • Chawner, Samuel J. R. A.;
    • Doherty, Joanne L.;
    • Maillard, Anne M.;
    • Jacquemont, Sébastien;
    • Chung, Wendy K.;
    • Green-Snyder, LeeAnne;
    • Bernier, Raphael A.;
    • Goin-Kochel, Robin P.;
    • Hanson, Ellen;
    • Linden, David E. J.;
    • Linden, Stefanie C.;
    • Raymond, F. Lucy;
    • Skuse, David;
    • Hall, Jeremy;
    • Owen, Michael J.;
    • Bree, Marianne B. M. van den
    Publication type:
    Article
    37

    Identifying Age Based Maturation in the ERP Response to Faces in Children With Autism: Implications for Developing Biomarkers for Use in Clinical Trials.

    Published in:
    Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.841236
    By:
    • Webb, Sara Jane;
    • Emerman, Iris;
    • Sugar, Catherine;
    • Senturk, Damla;
    • Naples, Adam J.;
    • Faja, Susan;
    • Benton, Jessica;
    • Borland, Heather;
    • Carlos, Carter;
    • Levin, April R.;
    • McAllister, Takumi;
    • Santhosh, Megha;
    • Bernier, Raphael A.;
    • Chawarska, Katarzyna;
    • Dawson, Geraldine;
    • Dziura, James;
    • Jeste, Shafali;
    • Kleinhans, Natalia;
    • Murias, Michael;
    • Sabatos-DeVito, Maura
    Publication type:
    Article
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    Excess of rare, inherited truncating mutations in autism.

    Published in:
    Nature Genetics, 2015, v. 47, n. 6, p. 582, doi. 10.1038/ng.3303
    By:
    • Krumm, Niklas;
    • Turner, Tychele N;
    • Baker, Carl;
    • Vives, Laura;
    • Mohajeri, Kiana;
    • Witherspoon, Kali;
    • Coe, Bradley P;
    • Stessman, Holly A;
    • Raja, Archana;
    • Eichler, Evan E;
    • He, Zong-Xiao;
    • Leal, Suzanne M;
    • Bernier, Raphael
    Publication type:
    Article
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    Language characterization in 16p11.2 deletion and duplication syndromes.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 6, p. 380, doi. 10.1002/ajmg.b.32809
    By:
    • Kim, So Hyun;
    • Green‐Snyder, LeeAnne;
    • Lord, Catherine;
    • Bishop, Somer;
    • Steinman, Kyle J.;
    • Bernier, Raphael;
    • Hanson, Ellen;
    • Goin‐Kochel, Robin P.;
    • Chung, Wendy K.
    Publication type:
    Article
    45

    Developmental trajectories for young children with 16p11.2 copy number variation.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 4, p. 367, doi. 10.1002/ajmg.b.32525
    By:
    • Bernier, Raphael;
    • Hudac, Caitlin M.;
    • Chen, Qixuan;
    • Zeng, Chubing;
    • Wallace, Arianne Stevens;
    • Gerdts, Jennifer;
    • Earl, Rachel;
    • Peterson, Jessica;
    • Wolken, Anne;
    • Peters, Alana;
    • Hanson, Ellen;
    • Goin‐Kochel, Robin P.;
    • Kanne, Stephen;
    • Snyder, LeeAnne Green;
    • Chung, Wendy K.
    Publication type:
    Article
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    Prospective investigation of FOXP1 syndrome.

    Published in:
    Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0172-6
    By:
    • Siper, Paige M.;
    • De Rubeis, Silvia;
    • del Pilar Trelles, Maria;
    • Durkin, Allison;
    • Di Marino, Daniele;
    • Muratet, François;
    • Frank, Yitzchak;
    • Lozano, Reymundo;
    • Eichler, Evan E.;
    • Kelly, Morgan;
    • Beighley, Jennifer;
    • Gerdts, Jennifer;
    • Wallace, Arianne S.;
    • Mefford, Heather C.;
    • Bernier, Raphael A.;
    • Kolevzon, Alexander;
    • Buxbaum, Joseph D.
    Publication type:
    Article
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