This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a Université de Montréal directory, so their courses and email address may be missing. Find their university profile.
Latest papers
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Human mutation · 2014
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
Human mutation · 2009
Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage.
Human molecular genetics · 2008
Latest funding
- $1,021,275
Estimating the effect size of rare genomic variants on cognitive and behavioral traits underlying neurodevelopmental disorders
CIHR · 2018 · Co-investigator
- $150,000
Multilevel analyses of retinoic acid signaling to understand and treat a rare form of progressive motor impairment. (RAinRARE project)
CIHR · 2018 · Nominated PI
- $132,323
EpigenCentral: Consolidated epigenetic landscape for congenital, developmental and childhood disorders.
CIHR · 2016 · Co-investigator
3 publications.
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ, FORGE Canada Consortium, Michaud J, Boles RG, Deal CL, Desilets V, Shoubridge EA, Samuels ME
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
Christensen KE, Rohlicek CV, Andelfinger GU, Michaud J, Bigras JL, Richter A, Mackenzie RE, Rozen R
Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage.
Seyrantepe V, Canuel M, Carpentier S, Landry K, Durand S, Liang F, Zeng J, Caqueret A, Gravel RA, Marchesini S, Zwingmann C, Michaud J, Morales CR, Levade T, Pshezhetsky AV
Estimating the effect size of rare genomic variants on cognitive and behavioral traits underlying neurodevelopmental disorders
Principal investigators: Jacquemont, Sebastien
Keywords: Copy Number Variants; Neurodevelopmental Disorders; Psychiatric Disorders; Single Nucleotide Variants
Multilevel analyses of retinoic acid signaling to understand and treat a rare form of progressive motor impairment. (RAinRARE project)
Principal investigators: Michaud, Jacques L
Keywords: Dystonia; Functional Genomics; Human Ipsc; Metabolomics; Proteomics; Retinoic Acid; Striatum
EpigenCentral: Consolidated epigenetic landscape for congenital, developmental and childhood disorders.
Principal investigators: Brudno, Michael
Keywords: Bioinformatics
18th International Fragile X and Other Early-Onset Cognitive Disorders Workshop
Principal investigators: Picketts, David J
Keywords: Autism Spectrum Disorders; Cognitive Disorder; Conference; Fragile X; Genetic Disease; Intellectual Disability; Neurodevelopmental Disorder; Workshop
Bridging the Gap in Paediatric Traumatic Brain Injury: Environmental, biological and clinical markers associated with preschool concussion and TBI
Principal investigators: Beauchamp, Miriam H
Keywords: Cognition; Concussion; Genetics; Neuroimaging; Paediatric; Post-Concussive Syndrome; Preschool; Rehabilitation; Social Cognition; Traumatic Brain Injury
The POPEYE project : Prevention of Ongoing Psychosocial comorbidities through Early intervention in Youth living with Epilepsy. A new transformative model for the management of chronic diseases.
Principal investigators: Carmant, Lionel; Brunet, Fabrice; Conrod, Patricia; Michaud, Jacques L; Rho, Jong M
Keywords: Epilepsy; Implementation Strategies; Web Resources
De novo mutations in birth defects.
Principal investigators: Michaud, Jacques L
Keywords: Birth Defects; De Novo Mutation; Next-Generation Sequencing
De novo mutations in intellectual disability
Principal investigators: Michaud, Jacques L
Keywords: Brain Development; De Novo Mutation; Intellectual Disability; Next-Generation Sequencing
Identification of autosomal recessive mutations associated with developmental abnormalities through next-generation resequencing
Principal investigators: Michaud, Jacques L; Samuels, Mark E
Keywords: Bioinformatics; Developmental Genetics; Genetics Of Birth Defects; Genomics; Next-Generation Sequencing; Whole Genome Exome Capture
The use of Next Generation Exome sequencing in the identification of genes responsible for rare childhood neurologic disorders
Principal investigators: Srour, Myriam
Keywords: Genetics; Homozygosity Mapping; Mental Retardation; Neuropathy; Pediatric Neurology; Whole-Exome Sequencing
From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.
Frequent collaborators
- Pediatrics
- Pédiatrie
- Human Genetics
- Pediatrics/Human Genetics
Co-authors at Université de Montréal, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
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