Jacques L. Michaud, M.D.
Affiliations: | CHU Ste-Justine |
Area:
Hypothalamic Development, Mental RetardationWebsite:
http://www.chu-sainte-justine.org/recherche/chercheurs.aspx?ID_NOUVEAU=317756&id_page=2432&id_menu=2429Google:
"Jacques Michaud"Mean distance: 29145.3
Children
Sign in to add trainee| Derek N. Robertson | post-doc | 2009-2011 | CHU Ste. Justine, Universite de Montreal |
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Publications
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| Schaaf CP, Betancur C, Yuen RKC, et al. (2020) A framework for an evidence-based gene list relevant to autism spectrum disorder. Nature Reviews. Genetics |
| Beauregard-Lacroix E, Salian S, Kim H, et al. (2019) A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. European Journal of Human Genetics : Ejhg |
| Szafranski P, Liu Q, Karolak JA, et al. (2019) Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype. Human Genetics |
| Bell S, Rousseau J, Peng H, et al. (2019) Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. American Journal of Human Genetics |
| Lemay P, De Marco P, Traverso M, et al. (2018) Whole exome sequencing identifies novel predisposing genes in neural tube defects. Molecular Genetics & Genomic Medicine |
| Szafranski P, Kośmider E, Liu Q, et al. (2018) LINE- and Alu-containing genomic instability hotspotat 16q24.1 associated with recurrent and nonrecurrent CNV deletionscausative for ACDMPV. Human Mutation |
| D'Amours G, Lopes F, Gauthier J, et al. (2018) Refining the phenotype associated with biallelic DNAJC21 mutations. Clinical Genetics |
| Monlong J, Girard SL, Meloche C, et al. (2018) Global characterization of copy number variants in epilepsy patients from whole genome sequencing. Plos Genetics. 14: e1007285 |
| Jobling R, Stavropoulos DJ, Marshall CR, et al. (2018) Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of-related disorders. Journal of Medical Genetics |
| Gauthier J, Meijer IA, Lessel D, et al. (2018) Recessive mutations in VPS13D cause childhood-onset movement disorders. Annals of Neurology |