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1. Autism spectrum disorders
: a reference handbook
by Bernier, Raphael (Raphael A.) and Gerdts, Jennifer
2010, Contemporary world issues, ISBN 9781598843354, xxi, 324
This handbook provides an overview of the current scientific understanding of autism spectrum disorders, as well as a cultural and historical perspective on... 
Autism spectrum disorders | Child Development Disorders, Pervasive
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2. Full Text 28.1 The Human CHD8 Phenotype
by Bernier, Raphael
Journal of the American Academy of Child & Adolescent Psychiatry, ISSN 0890-8567, 10/2018, Volume 57, Issue 10, p. S312
Disruptive mutations to chromodomain helicase DNA-binding protein 8 (CHD8) have been strongly associated with ASD. The focus of this study is to describe the... 
Tourism | DNA helicase | Variants | Phenotypes | DNA-binding protein | Disasters | DNA | Hurricanes | Shootings | Emotions
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3. Autism spectrum disorders
: a reference handbook
by Bernier, Raphael (Raphael A.) and Gerdts, Jennifer
2010, Contemporary world issues, ISBN 9781598843354
Autism spectrum disorders | Child Development Disorders, Pervasive
Web Resource
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4. Autism spectrum disorders
: a reference handbook
by Bernier, Raphael (Raphael A.) and Gerdts, Jennifer
2010, Contemporary world issues, ISBN 9781598843354
Autism spectrum disorders | Child Development Disorders, Pervasive
Web Resource
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5. Autism spectrum disorders
: a reference handbook
by Bernier, Raphael (Raphael A.) and Gerdts, Jennifer
2010, Contemporary world issues, ISBN 9781598843354
Autism spectrum disorders | Child Development Disorders, Pervasive
Web Resource
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6. Autism spectrum disorders
: a reference handbook
by Bernier, Raphael (Raphael A.) and Gerdts, Jennifer
2010, Contemporary world issues, ISBN 9781598843354
Autism spectrum disorders | Child Development Disorders, Pervasive
Web Resource
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7. Full Text External irradiation with or without long-term androgen suppression for prostate cancer with high metastatic risk: 10-year results of an EORTC randomised study
by Bolla, Michel, Prof and Van Tienhoven, Geertjan, PhD and Warde, Padraig, Prof and Dubois, Jean Bernard, Prof and Mirimanoff, René-Olivier, Prof and Storme, Guy, Prof and Bernier, Jacques, MD and Kuten, Abraham, Prof and Sternberg, Cora, MD and Billiet, Ignace, MD and Torecilla, José Lopez, MD and Pfeffer, Raphael, MD and Cutajar, Carmel Lino, Prof and Van der Kwast, Theodore, PhD and Collette, Laurence, PhD
Lancet Oncology, The, ISSN 1470-2045, 2010, Volume 11, Issue 11, pp. 1066 - 1073
Summary Background We did a randomised phase 3 trial assessing the benefit of addition of long-term androgen suppression with a luteinising-hormone-releasing... 
Hematology, Oncology and Palliative Medicine | PHASE-III TRIAL | DEPRIVATION THERAPY | BEAM RADIOTHERAPY | MITOXANTRONE | ONCOLOGY | GROUP PROTOCOL 92-02 | FOLLOW-UP | DURATION | RADIATION-THERAPY | ADJUVANT | NEOADJUVANT | Prostatic Neoplasms - radiotherapy | Humans | Antineoplastic Combined Chemotherapy Protocols - adverse effects | Male | Russia | Time Factors | Dose Fractionation | Chemotherapy, Adjuvant | Prostatic Neoplasms - drug therapy | Adenocarcinoma - radiotherapy | Goserelin - administration & dosage | Prostatic Neoplasms - pathology | Drug Administration Schedule | Risk Assessment | Neoplasm Invasiveness | Cyproterone Acetate - administration & dosage | Europe | Kaplan-Meier Estimate | Treatment Outcome | Lymphatic Metastasis | Adenocarcinoma - drug therapy | Adenocarcinoma - secondary | Prostatic Neoplasms - mortality | Canada | Disease-Free Survival | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Cardiovascular Diseases - chemically induced | Androgen Antagonists - administration & dosage | Israel | Fractures, Bone - chemically induced | Neoplasm Staging | Adenocarcinoma - mortality | Oncology, Experimental | Radiation | Metastasis | Hormones | Universities and colleges | Research | Radiotherapy | Health aspects | Risk factors | Cancer
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8. Full Text A quarter century of progress on the early detection and treatment of autism spectrum disorder
by Dawson, Geraldine and Bernier, Raphael
Development and Psychopathology, ISSN 0954-5794, 11/2013, Volume 25, Issue 4, pp. 1455 - 1472
The last 25 years have witnessed tremendous changes in our ability to detect autism very early in life and provide interventions that can significantly... 
PRESCHOOL-CHILDREN | PSYCHOLOGY, DEVELOPMENTAL | FOLLOW-UP | INTENSIVE BEHAVIORAL INTERVENTION | JOINT ATTENTION | DEVELOPMENTAL-DISABILITIES | LANGUAGE-DEVELOPMENT | YOUNG-CHILDREN | NONVERBAL-COMMUNICATION | COMMUNICATION DEVELOPMENT | FACIAL EXPRESSIONS | Child Development Disorders, Pervasive - therapy | Child Development Disorders, Pervasive - psychology | Play and Playthings | Humans | Child Development Disorders, Pervasive - diagnosis | Child, Preschool | Infant | Child Development | Early Diagnosis | Studies | Autism | Behavior disorders | Psychopathology | Developmental psychology
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9. Full Text Excess of rare, inherited truncating mutations in autism
by Krumm, Niklas and Turner, Tychele N and Baker, Carl and Vives, Laura and Mohajeri, Kiana and Witherspoon, Kali and Raja, Archana and Coe, Bradley P and Stessman, Holly A and He, Zong-Xiao and Leal, Suzanne M and Bernier, Raphael and Eichler, Evan E
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 6, pp. 582 - 588
To assess the relative impact of inherited and de novo variants on autism risk, we generated a comprehensive set of exonic single-nucleotide variants (SNVs)... 
DE-NOVO MUTATIONS | CHD8 | GENES | SUPPORTS | CNVS | GENETICS & HEREDITY | TRANSMISSION DISEQUILIBRIUM | RISK | GROWTH-FACTOR | MODEL | DELETIONS | Autistic Disorder - genetics | Exome | Genetic Predisposition to Disease | Genetic Association Studies | Humans | Female | Male | Risk | Polymorphism, Single Nucleotide | Codon, Nonsense | DNA Copy Number Variations | Linkage Disequilibrium | Autism | Development and progression | Genetic aspects | Single nucleotide polymorphisms | Identification and classification | Health aspects | Studies | Confidence intervals | Genomics | Quality control | Genomes | Mutation | Siblings
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10. Full Text Integrating Clinical Genetics Into Child Psychiatry: Lessons From Neurogenetics Clinics
by Schneider, Benjamin and Reiss, Allan L and Bernier, Raphael
Journal of the American Academy of Child & Adolescent Psychiatry, ISSN 0890-8567, 10/2018, Volume 57, Issue 10, p. S15
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11. Integrating Clinical Genetics Into Child Psychiatry: Lessons From Neurogenetics Clinics
by Benjamin Schneider and Allan L Reiss and Raphael Bernier
Journal of the American Academy of Child and Adolescent Psychiatry, ISSN 0890-8567, 10/2018, Volume 57, Issue 10, p. S15
A genetic etiology can now be identified for many children with neurodevelopmental disorders. These children often have behavioral challenges, such as... 
Child psychiatry | Self-injury | Clinics | Mental disorders | Hyperactivity | Diagnostic tests | Child psychology | Neurodevelopmental disorders | Neurogenesis | Genetic screening | Etiology | Feasibility | Anxiety | Neuropsychology | Children | Psychiatry | Aggressiveness
Journal Article
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12. Full Text Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
by O'Roak, Brian J and Deriziotis, Pelagia and Lee, Choli and Vives, Laura and Schwartz, Jerrod J and Girirajan, Santhosh and Karakoc, Emre and MacKenzie, Alexandra P and Ng, Sarah B and Baker, Carl and Rieder, Mark J and Nickerson, Deborah A and Bernier, Raphael and Fisher, Simon E and Shendure, Jay and Eichler, Evan E
Nature Genetics, ISSN 1061-4036, 06/2011, Volume 43, Issue 6, pp. 585 - 589
Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a strong genetic component complicated by substantial locus... 
MENTAL-RETARDATION | GENE | GENETICS & HEREDITY | RECURRENT MICRODELETIONS | LANGUAGE DISORDER | SEGMENTAL DUPLICATIONS | RISK | SPEECH | HUMAN-GENOME | SCN1A | FOXP1 | Genetic Predisposition to Disease | Child Development Disorders, Pervasive - genetics | Exons | Pedigree | Humans | Middle Aged | Adult | Female | Male | Mutation | Child | Sequence Analysis, DNA | Autism | Usage | Gene mutations | Genetic aspects | Diagnosis | Research | Nucleotide sequencing | Health aspects | Risk factors | Haplotypes | Health sciences | Pilot projects | Womens health | Genomics | Genomes | Genetic testing
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13. Full Text Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
by O'Roak, Brian J and O ’ Roak, Brian J and Vives, Laura and Girirajan, Santhosh and Karakoc, Emre and Krumm, Niklas and Krumm, Niklas and Coe, Bradley P and Levy, Roie and Levy, Roie and Ko, Arthur and Lee, Choli and Smith, Joshua D and Turner, Emily H and Stanaway, Ian B and Vernot, Benjamin and Malig, Maika and Baker, Carl and Akey, Joshua M and Reilly, Beau and Borenstein, Elhanan and Akey, Joshua M and Borenstein, Elhanan and Rieder, Mark J and Rieder, Mark J and Nickerson, Deborah A and Nickerson, Deborah A and Bernier, Raphael and Bernier, Raphael and Shendure, Jay and Eichler, Evan E and Shendure, Jay and Eichler, Evan E
Nature, ISSN 0028-0836, 05/2012, Volume 484, Issue 7397, pp. 246 - 250
It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the underlying genetic cause... 
NIMH | INTEGRATION | CHD8 | MULTIDISCIPLINARY SCIENCES | GENES | CNVS | SPECTRUM | GENOME-WIDE ASSOCIATION | COPY-NUMBER VARIATION | STRATEGIES | REGION | Autistic Disorder - genetics | Genetic Predisposition to Disease - genetics | Reproducibility of Results | Signal Transduction | Humans | Parents | Tumor Suppressor Protein p53 - metabolism | Exons - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | beta Catenin - metabolism | Netrins | Receptors, N-Methyl-D-Aspartate - genetics | Laminin - genetics | NAV1.1 Voltage-Gated Sodium Channel | Point Mutation - genetics | Exome - genetics | Protein Interaction Maps - genetics | Stochastic Processes | Sodium Channels - genetics | GPI-Linked Proteins - genetics | Siblings | Care and treatment | Gene mutations | Genetic variation | Pervasive developmental disorders | Genetic aspects | Research | Health aspects | Risk factors | Autism | Genetics | Mutation | Genes
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14. Full Text Erratum to: Interactive Effects of Prenatal Antidepressant Exposure and Likely Gene Disrupting Mutations on the Severity of Autism Spectrum Disorder
by Ackerman, Sean and Schoenbrun, Sarah and Hudac, Caitlin and Bernier, Raphael
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 11/2017, Volume 47, Issue 11, pp. 3497 - 3497
Pediatrics | Child and School Psychology | Neurosciences | Public Health | Psychology | Autism | Severity | Prenatal experience | Fetal exposure | Antenatal | Antidepressant drugs
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15. Full Text Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
by Brian J. O'Roak and Laura Vives and Wenqing Fu and Jarrett D. Egertson and Ian B. Stanaway and Ian G. Phelps and Gemma Carvill and Akash Kumar and Choli Lee and Katy Ankenman and Jeff Munson and Joseph B. Hiatt and Emily H. Turner and Roie Levy and Diana R. O'Day and Niklas Krumm and Bradley P. Coe and Beth K. Martin and Elhanan Borenstein and Deborah A. Nickerson and Heather C. Mefford and Dan Doherty and Joshua M. Akey and Raphael Bernier and Evan E. Eichler and Jay Shendure
Science, ISSN 0036-8075, 12/2012, Volume 338, Issue 6114, pp. 1619 - 1622
Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de novo mutations but few recurrently disrupted genes. We therefore developed... 
Exome | Genetic variation | Pervasive child development disorders | DNA | REPORTS | Cell lines | Genetic loci | Genomes | Genetic mutation | Sequencing | Cells | DYRK1A | RISK | AMPLIFICATION | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | RESOURCE | Microcephaly - genetics | Humans | Child, Preschool | Male | Cephalometry | Receptors, N-Methyl-D-Aspartate - genetics | Protein-Tyrosine Kinases - genetics | Female | Nuclear Proteins - genetics | Child | Megalencephaly - genetics | DNA Probes | PTEN Phosphohydrolase - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Protein-Serine-Threonine Kinases - genetics | Chromatin Assembly and Disassembly | Repressor Proteins - genetics | Receptors, Cytoplasmic and Nuclear - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | T-Box Domain Proteins - genetics | beta Catenin - metabolism | beta Catenin - genetics | Child Development Disorders, Pervasive - genetics | Mutation | Sequence Analysis, DNA - methods | Cohort Studies | Genetic aspects | Research | Nucleotide sequencing | Gene mutations | Pervasive developmental disorders | DNA sequencing | Autism | Genotype & phenotype | Genomics | Multiplexing | Mutations | Genes | Inversions | Disorders | Online | Gene sequencing
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