What is he best known for?
The fields of study he is best known for:
Bernard Brais mainly focuses on Genetics, Oculopharyngeal muscular dystrophy, Mutation, Gene and Pathology.
His study in Locus, Missense mutation, Phenotype, Hereditary sensory and autonomic neuropathy and Exon is carried out as part of his Genetics studies.
His work in the fields of Missense mutation, such as Nonsense mutation, intersects with other areas such as Skeletal disorder.
His Oculopharyngeal muscular dystrophy research also covers Ptosis and Muscular dystrophy studies.
His Mutation research is multidisciplinary, relying on both Hypogonadotropic hypogonadism and Mitochondrion.
His research investigates the link between Gene and topics such as Molecular biology that cross with problems in Protein subunit, RNA and Leukodystrophy.
His most cited work include:
- Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy (627 citations)
- A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. (264 citations)
- Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. (213 citations)
What are the main themes of his work throughout his whole career to date?
His primary areas of investigation include Genetics, Oculopharyngeal muscular dystrophy, Ataxia, Gene and Pathology.
His study in Genetics focuses on Missense mutation, Locus, Founder effect, Haplotype and Spinocerebellar ataxia.
Biochemistry and Nuclear protein is closely connected to Cell biology in his research, which is encompassed under the umbrella topic of Oculopharyngeal muscular dystrophy.
His research in Ataxia intersects with topics in Exome sequencing, Pediatrics and Cohort.
His Gene research includes elements of Molecular biology and Leukodystrophy.
His work on Disease as part of general Pathology study is frequently connected to Congenital myopathy, therefore bridging the gap between diverse disciplines of science and establishing a new relationship between them.
He most often published in these fields:
- Genetics (34.92%)
- Oculopharyngeal muscular dystrophy (23.28%)
- Ataxia (22.75%)
What were the highlights of his more recent work (between 2017-2021)?
- Ataxia (22.75%)
- Pediatrics (15.34%)
- Gene (21.69%)
In recent papers he was focusing on the following fields of study:
The scientist’s investigation covers issues in Ataxia, Pediatrics, Gene, Missense mutation and Physical medicine and rehabilitation.
His Ataxia research includes themes of Longitudinal study, Neurofilament, Wild type, Prospective cohort study and Cohort.
His study focuses on the intersection of Pediatrics and fields such as Natural history with connections in the field of Disease, Ptosis, Dysphagia, Clinical research and Amyotrophic lateral sclerosis.
The Oculopharyngeal muscular dystrophy research Bernard Brais does as part of his general Ptosis study is frequently linked to other disciplines of science, such as Respiratory disease and Proximal weakness, therefore creating a link between diverse domains of science.
His Gene study improves the overall literature in Genetics.
Bernard Brais interconnects Skeletal muscle and Myopathy in the investigation of issues within Missense mutation.
Between 2017 and 2021, his most popular works were:
- Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations. (18 citations)
- Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations. (18 citations)
- Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200. (18 citations)
In his most recent research, the most cited papers focused on:
His scientific interests lie mostly in Ataxia, Gene, Cell biology, Mutation and RNA polymerase III.
He has included themes like Neurofilament, Balance, Hereditary spastic paraplegia, Pediatrics and Cohort in his Ataxia study.
Gene is a subfield of Genetics that Bernard Brais tackles.
His Cell biology research incorporates themes from RNA, Transcriptome and DNA.
The study incorporates disciplines such as Phenotype and Purkinje cell in addition to Mutation.
His study in Phenotype is interdisciplinary in nature, drawing from both Molecular biology, Biogenesis, Mutant and Leukodystrophy.
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