His primary areas of investigation include Autism, Genetics, Autism spectrum disorder, Copy-number variation and Developmental disorder. His Autism research focuses on Phenotype and how it connects with Disease. The concepts of his Autism spectrum disorder study are interwoven with issues in Psychological testing and Pediatrics.
His Copy-number variation research is multidisciplinary, relying on both Gene duplication, Odds ratio and Intellectual disability. His Developmental disorder research incorporates elements of Measles, Rubella, Mirror neuron and Audiology. His Candidate gene study incorporates themes from Mutation, Exome sequencing and Proband.
Raphael A. Bernier mainly focuses on Autism, Autism spectrum disorder, Genetics, Intellectual disability and Neuroscience. He interconnects Pediatrics and Social cognition in the investigation of issues within Autism. His research in Autism spectrum disorder intersects with topics in Neurodevelopmental disorder, Audiology, Cognition and Clinical psychology.
Genetics is represented through his Gene, Copy-number variation, Mutation, Exome sequencing and Phenotype research. His Copy-number variation research integrates issues from Gene duplication, Epigenetics of autism, Heritability of autism and Proband. His biological study spans a wide range of topics, including Hypotonia, Haploinsufficiency and Bioinformatics.
His main research concerns Autism spectrum disorder, Autism, Genetics, Phenotype and Gene. Raphael A. Bernier combines subjects such as Neurodevelopmental disorder, Neuroscience and Clinical psychology with his study of Autism spectrum disorder. His Autism study combines topics in areas such as Clinical trial, Copy-number variation, Intellectual disability, Medical physics and Cohort.
Raphael A. Bernier is studying De novo mutations, which is a component of Genetics. The various areas that Raphael A. Bernier examines in his Phenotype study include Computational biology, Variable Expression and MAPK/ERK pathway. His work in the fields of Gene, such as Mutation, GABRG2 and CTCF, intersects with other areas such as Large effect size.
His primary scientific interests are in Autism spectrum disorder, Autism, Gene, Medical physics and Clinical trial. Many of his research projects under Autism spectrum disorder are closely connected to Research groups with Research groups, tying the diverse disciplines of science together. Raphael A. Bernier works mostly in the field of Autism, limiting it down to concerns involving Copy-number variation and, occasionally, Cognition, Protective factor, Clinical psychology, Genetic variation and Risk factor.
His Gene study results in a more complete grasp of Genetics. His work on Exome sequencing, Neurodevelopmental disorder, Regulation of gene expression and GABRG2 as part of general Genetics study is frequently linked to Chromodomain, bridging the gap between disciplines. His Clinical trial study integrates concerns from other disciplines, such as Analytics and Eye tracking.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Brian J. O’Roak;Laura Vives;Santhosh Girirajan;Emre Karakoc.
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Joseph T. Glessner;Kai Wang;Guiqing Cai;Olena Korvatska.
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
Brian J O'Roak;Pelagia Deriziotis;Pelagia Deriziotis;Choli Lee;Laura Vives.
Nature Genetics (2011)
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Brian J. O’Roak;Laura Vives;Wenqing Fu;Jarrett D. Egertson.
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Kai Wang;Haitao Zhang;Deqiong Ma;Maja Bucan.
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Dalila Pinto;Elsa Delaby;Elsa Delaby;Elsa Delaby;Daniele Merico;Mafalda Barbosa.
American Journal of Human Genetics (2014)
A multisite study of the clinical diagnosis of different autism spectrum disorders
Catherine Lord;Eva Petkova;Eva Petkova;Vanessa Hus;Weijin Gan.
Archives of General Psychiatry (2012)
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Raphael Bernier;Christelle Golzio;Bo Xiong;Holly A. Stessman.
Children referred for possible sexual abuse: medical findings in 2384 children.
Astrid Heger;Lynne Ticson;Oralia Velasquez;Raphael Bernier.
Child Abuse & Neglect (2002)
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
Richard J.L. Anney;Richard J.L. Anney;Stephan Ripke;Stephan Ripke;Stephan Ripke;Verneri Anttila;Jakob Grove;Jakob Grove.
Molecular Autism (2017)
If you think any of the details on this page are incorrect, let us know.
We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below: