What is he best known for?
The fields of study he is best known for:
- Gene
- Genetics
- Internal medicine
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.
His most cited work include:
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations (1643 citations)
- Autism genome-wide copy number variation reveals ubiquitin and neuronal genes (1135 citations)
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (952 citations)
What are the main themes of his work throughout his whole career to date?
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.
He most often published in these fields:
- Autism (73.11%)
- Autism spectrum disorder (73.58%)
- Genetics (33.96%)
What were the highlights of his more recent work (between 2019-2021)?
- Autism spectrum disorder (73.58%)
- Autism (73.11%)
- Genetics (33.96%)
In recent papers he was focusing on the following fields of study:
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.
Between 2019 and 2021, his most popular works were:
- Insufficient Evidence for “Autism-Specific” Genes (25 citations)
- A framework for an evidence-based gene list relevant to autism spectrum disorder (15 citations)
- A framework for an evidence-based gene list relevant to autism spectrum disorder (15 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Internal medicine
- Mutation
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.
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