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.
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
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.
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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Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Yanick J Crow;Yanick J Crow;Bruce E Hayward;Rekha Parmar;Peter Robins.
Nature Genetics (2006)
G protein-coupled receptor-dependent development of human frontal cortex.
Xianhua Piao;Sean S. Hill;Adria Bodell;Bernard S. Chang.
Development of neuroendocrine lineages requires the bHLH–PAS transcription factor SIM1
Jacques L. Michaud;Thomas Rosenquist;Noah R. May;Chen-Ming Fan.
Genes & Development (1998)
De Novo Mutations in Moderate or Severe Intellectual Disability
Fadi F. Hamdan;Myriam Srour;Jose-Mario Capo-Chichi;Hussein Daoud.
PLOS Genetics (2014)
Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
Fadi F. Hamdan;Julie Gauthier;Yoichi Araki;Da-Ting Lin.
American Journal of Human Genetics (2011)
SHANK1 Deletions in Males with Autism Spectrum Disorder
Daisuke Sato;Anath C. Lionel;Anath C. Lionel;Claire S. Leblond;Claire S. Leblond;Claire S. Leblond;Aparna Prasad.
American Journal of Human Genetics (2012)
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
S L Sawyer;T Hartley;D A Dyment;C L Beaulieu.
Clinical Genetics (2016)
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
Fadi F. Hamdan;Julie Gauthier;Dan Spiegelman;Anne Noreau.
The New England Journal of Medicine (2009)
Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus
Jacques L. Michaud;Francine Boucher;Anna Melnyk.
Human Molecular Genetics (2001)
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay.
American Journal of Human Genetics (2017)
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