What is he best known for?
The fields of study he is best known for:
His main research concerns Genetics, Mutation, Autism, Missense mutation and Candidate gene.
Genetics and Epilepsy are commonly linked in his work.
His research in Epilepsy focuses on subjects like Genetic association, which are connected to Medical genetics.
His Exome sequencing study, which is part of a larger body of work in Mutation, is frequently linked to GRIN1, bridging the gap between disciplines.
His Autism research is multidisciplinary, incorporating elements of Schizophrenia and Intellectual disability.
His study focuses on the intersection of Missense mutation and fields such as Frameshift mutation with connections in the field of X chromosome, High-functioning autism, Coding region and Neutral mutation.
His most cited work include:
- Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. (605 citations)
- G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex (390 citations)
- Development of neuroendocrine lineages requires the bHLH–PAS transcription factor SIM1 (310 citations)
What are the main themes of his work throughout his whole career to date?
Jacques L. Michaud spends much of his time researching Genetics, Internal medicine, Missense mutation, Intellectual disability and Endocrinology.
His research related to Mutation, Exome sequencing, Gene, Exome and Phenotype might be considered part of Genetics.
His Exome research focuses on subjects like Nonsense mutation, which are linked to Candidate gene.
His Missense mutation study also includes fields such as
- Epilepsy which is related to area like Copy-number variation, Genetic linkage and Cohort,
- Microcephaly together with Locus.
Exon is closely connected to Autism in his research, which is encompassed under the umbrella topic of Intellectual disability.
His work in the fields of Endocrinology, such as Hypothalamus, overlaps with other areas such as SIM1.
He most often published in these fields:
- Genetics (53.12%)
- Internal medicine (21.88%)
- Missense mutation (22.50%)
What were the highlights of his more recent work (between 2015-2021)?
- Genetics (53.12%)
- Epilepsy (17.50%)
- Intellectual disability (23.75%)
In recent papers he was focusing on the following fields of study:
Jacques L. Michaud mostly deals with Genetics, Epilepsy, Intellectual disability, Phenotype and Missense mutation.
As part of his studies on Genetics, Jacques L. Michaud frequently links adjacent subjects like Bioinformatics.
His research integrates issues of Copy-number variation, Internal medicine, Genetic linkage, Gene and Microcephaly in his study of Epilepsy.
His Intellectual disability research is multidisciplinary, incorporating perspectives in Neurotypical, Fragile X syndrome, Audiology and Electroencephalography.
His Phenotype research incorporates themes from Mutation, Sanger sequencing, Autism, Allele and Horner syndrome.
The various areas that Jacques L. Michaud examines in his Missense mutation study include Sex characteristics, Encephalopathy, X-linked recessive inheritance, Movement disorders and Physiology.
Between 2015 and 2021, his most popular works were:
- Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. (213 citations)
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies (175 citations)
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies (175 citations)
In his most recent research, the most cited papers focused on:
His scientific interests lie mostly in Genetics, Epilepsy, Exome, Phenotype and Intellectual disability.
His study in Bioinformatics extends to Genetics with its themes.
His Epilepsy research is multidisciplinary, incorporating elements of Missense mutation, Copy-number variation, Genetic linkage, X-linked recessive inheritance and X-inactivation.
The Exome study combines topics in areas such as Hypopituitarism, Etiology and Sequence.
His Phenotype research integrates issues from Mutation, Consanguinity and Whole genome sequencing.
His studies deal with areas such as Sex characteristics, Encephalopathy, Specific language impairment, Movement disorders and Physiology as well as Intellectual disability.
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