Jacques L Michaud

Jacques L Michaud

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Jacques L Michaud

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

Am J Med Genet A 2018 04 12;176(4):985-991. Epub 2018 Feb 12.

Department of Pediatrics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38628DOI Listing
April 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Altered visual repetition suppression in Fragile X Syndrome: New evidence from ERPs and oscillatory activity.

Int J Dev Neurosci 2017 Jun 19;59:52-59. Epub 2017 Mar 19.

Departement de Psychologie, Université de Montréal, Montreal, Canada; Neuroscience of Early Development (NED), Montreal, Canada; Centre de Recherche en Neuropsychologie et Cognition (CERNEC), Montreal, Canada; Research Center of the CHU Ste-Justine Mother and Child University Hospital Center, Université de Montreal, Quebec, Canada; International Laboratory for Brain, Music and Sound Research (BRAMS), Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ijdevneu.2017.03.008DOI Listing
June 2017

Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

Am J Med Genet A 2017 Jun 21;173(6):1611-1619. Epub 2017 Apr 21.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario.

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http://dx.doi.org/10.1002/ajmg.a.38231DOI Listing
June 2017

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

Am J Hum Genet 2017 May 20;100(5):824-830. Epub 2017 Apr 20.

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, QC H3T 1J4, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173011
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http://dx.doi.org/10.1016/j.ajhg.2017.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420346PMC
May 2017

Overstressed response to EIF2S3 variants in MEHMO syndrome.

Hum Mutat 2017 04;38(4):337

CHU Sainte-Justine and Université de Montréal, Canada.

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http://dx.doi.org/10.1002/humu.23195DOI Listing
April 2017

FHF1 (FGF12) epileptic encephalopathy.

Neurol Genet 2016 Dec 28;2(6):e115. Epub 2016 Oct 28.

Program in Genetics and Genome Biology and Division of Neurology (S.A.-M., B.A.M.), Department of Paediatrics, The Hospital for Sick Children, and University of Toronto, Ontario, Canada; Institute of Genetic Medicine (M.S.), International Centre for Life, Pediatric Neurology (V.R.), Newcastle General Hospital, UK; Center for Human Genetics (S.D., K.D.), UH Case Medical Center, Cleveland, OH; Department of Molecular and Human Genetics (F.X., Y.Y., J.A.R.), Baylor College of Medicine, Houston, TX; Baylor Miraca Genetics Laboratories (F.X., Y.Y.), Houston, TX; The Deciphering Developmental Disorders (DDD) Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK; Division of Neurology (P.C.), CHUM Notre-Dame, Hospital University of Montreal, Quebec, Canada; Department of Pediatrics (J.L.M., P.M.C.), Department of Neurosciences (J.L.M., P.M.C.), Université de Montréal, Québec, Canada; and CHU Sainte-Justine Research Center (J.L.M., F.A.H., P.M.C.), Montreal, Quebec, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5087254PMC
December 2016

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.

Am J Med Genet A 2016 11;170(11):2916-2926

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37669DOI Listing
November 2016

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

Eur J Med Genet 2015 Dec 11;58(12):637-41. Epub 2015 Nov 11.

Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon; Institut Jérôme Lejeune, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.11.005DOI Listing
December 2015

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.

Hum Mutat 2015 Aug 22;36(8):753-7. Epub 2015 Jun 22.

CHU Sainte-Justine Research Center, Montreal, Canada.

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http://dx.doi.org/10.1002/humu.22797DOI Listing
August 2015

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

J Med Genet 2015 May 3;52(5):303-11. Epub 2015 Feb 3.

CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Canada Department of Neurosciences, Université de Montréal, Montreal, Canada Department of Pediatrics, Université de Montréal, Montreal, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2014-102952DOI Listing
May 2015

The genetic landscape of infantile spasms.

Hum Mol Genet 2014 Sep 29;23(18):4846-58. Epub 2014 Apr 29.

Department of Pediatrics and Department of Neurosciences, Université de Montréal, Montréal, QC, Canada, CHU Ste-Justine Research Center, Montréal, QC, Canada,

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddu199DOI Listing
September 2014

Alterations of visual and auditory evoked potentials in fragile X syndrome.

Int J Dev Neurosci 2014 Aug 27;36:90-7. Epub 2014 May 27.

Research Center of the CHU Ste-Justine Mother and Child University Hospital Center, University of Montreal, Quebec, Canada; Psychology Department, University of Montreal, Quebec, Canada; Centre de Recherche en Neuropsychologie et Cognition, University of Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ijdevneu.2014.05.003DOI Listing
August 2014

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

Eur J Hum Genet 2014 Jun 20;22(6):792-800. Epub 2013 Nov 20.

1] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada [2] Child & Family Research Institute, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023222PMC
June 2014

Risk of congenital heart defects is influenced by genetic variation in folate metabolism.

Cardiol Young 2013 Feb 5;23(1):89-98. Epub 2012 Apr 5.

Department of Pediatrics and Human Genetics, McGill University-Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1017/S1047951112000431DOI Listing
February 2013

Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus.

Hum Mol Genet 2012 Nov 2;21(21):4703-17. Epub 2012 Aug 2.

Unité de Recherche en Physiologie Moléculaire, Namur Research Institute for Life Sciences, FUNDP School of Medicine, University of Namur, 61 rue de Bruxelles, Namur B-5000, Belgium.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/dds310DOI Listing
November 2012

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

J Med Genet 2012 Oct 25;49(10):636-41. Epub 2012 Sep 25.

Centre of Excellence in Neurosciences of Université de Montréal and Sainte-Justine Hospital Research Center, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1136/jmedgenet-2012-101132DOI Listing
October 2012

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.

Eur J Hum Genet 2012 Jul 18;20(7):796-800. Epub 2012 Jan 18.

Centre of Excellence in Neuroscience of Université de Montréal, Centre de Recherche du CHU Sainte-Justine, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1038/ejhg.2011.271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376261PMC
July 2012

Homozygous deletion of Tenascin-R in a patient with intellectual disability.

J Med Genet 2012 Jul 22;49(7):451-4. Epub 2012 Jun 22.

Division of Pediatric Neurology, Departments of Neurology/Neurosurgery, McGill University, Montreal Children’s Hospital-McGill University Health Center, Quebec, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2012-100831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395313PMC
July 2012

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

Hum Mutat 2011 Oct 9;32(10):1114-7. Epub 2011 Sep 9.

Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Canada.

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http://dx.doi.org/10.1002/humu.21546DOI Listing
October 2011

X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.

Am J Med Genet A 2011 Oct 9;155A(10):2370-80. Epub 2011 Sep 9.

Molecular Genetics Laboratory, GSTS Pathology, Guy's Hospital, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.33913DOI Listing
October 2011

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

Biol Psychiatry 2011 May 15;69(9):898-901. Epub 2011 Jan 15.

Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease, S2D, Group, Centre Hospitalier Universitaire Sainte-Justine Research Center, Montréal, Canada.

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http://dx.doi.org/10.1016/j.biopsych.2010.11.015DOI Listing
May 2011

Intellectual disability without epilepsy associated with STXBP1 disruption.

Eur J Hum Genet 2011 May 2;19(5):607-9. Epub 2011 Mar 2.

The Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease (S2D) group, Montréal, Quebec, Canada.

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http://www.nature.com/articles/ejhg2010183
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http://dx.doi.org/10.1038/ejhg.2010.183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083607PMC
May 2011

Acquired myelinated nerve fibers in association with optic disk drusen.

J AAPOS 2010 Dec 19;14(6):544-7. Epub 2010 Nov 19.

Department of Pediatric Ophthalmology, Le Centre Hospitalier Universitaire Mère-Enfant Sainte-Justine, University of Montreal, Montreal, Canada.

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http://dx.doi.org/10.1016/j.jaapos.2010.08.008DOI Listing
December 2010

De novo truncating mutation in Kinesin 17 associated with schizophrenia.

Biol Psychiatry 2010 Oct 19;68(7):649-56. Epub 2010 Jun 19.

Department of Medicine, Center of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de l'Université de Montreal Research Center, University of Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.biopsych.2010.04.018DOI Listing
October 2010

[De novo mutations in SYNGAP1 associated with non-syndromic mental retardation].

Med Sci (Paris) 2010 Feb;26(2):133-5

Centre d'excellence en neuromique de l'Université de Montréal, Centre de recherche, Montréal, H3T 1C5 Canada.

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http://dx.doi.org/10.1051/medsci/2010262133DOI Listing
February 2010

Impact of Sim1 gene dosage on the development of the paraventricular and supraoptic nuclei of the hypothalamus.

Eur J Neurosci 2009 Dec 10;30(12):2239-49. Epub 2009 Dec 10.

Center of Excellence in Neuromics of Université de Montréal, Montréal, QC, Canada.

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http://dx.doi.org/10.1111/j.1460-9568.2009.07028.xDOI Listing
December 2009

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

Ann Neurol 2009 Jun;65(6):748-53

Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease Group, Centre Hospitalier Universitaire Sainte-Justine Research Center, Université de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/ana.21625DOI Listing
June 2009

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

Hum Mol Genet 2008 Dec 18;17(24):3965-74. Epub 2008 Sep 18.

Centre for Excellence in Neuromics, CHUM Research Center and Department of Medicine, University of Montreal, Montreal, QC, Canada H2L 4M1.

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http://dx.doi.org/10.1093/hmg/ddn300DOI Listing
December 2008

Recurrent pancreatitis in mitochondrial cytopathy.

Am J Med Genet A 2006 Nov;140(21):2330-5

Division of Medical Genetics, Hôpital Sainte-Justine, Montreal, Québec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31457DOI Listing
November 2006

Laminar organization of the early developing anterior hypothalamus.

Dev Biol 2006 Oct 15;298(1):95-106. Epub 2006 Jun 15.

Research Center, Hôpital Sainte-Justine, 3175 Côte Sainte-Catherine, Montréal, Québec, Canada H3T 1C5.

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http://dx.doi.org/10.1016/j.ydbio.2006.06.019DOI Listing
October 2006

Obstetric US: watch the fetal hands.

Radiographics 2006 May-Jun;26(3):811-29; discussion 830-1

Department of Radiology, Hôpital Ste-Justine and Université de Montréal, 3175 Côte Ste-Catherine, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1148/rg.263055113DOI Listing
September 2006

Looking for trouble: a search for developmental defects of the hypothalamus.

Horm Res 2005 14;64(5):222-30. Epub 2005 Oct 14.

Research Center, Hôpital Sainte-Justine, Montréal, Canada.

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http://dx.doi.org/10.1159/000088977DOI Listing
December 2005

Sim1 and Sim2 are required for the correct targeting of mammillary body axons.

Development 2005 Dec 16;132(24):5527-37. Epub 2005 Nov 16.

Research Center, Hôpital Sainte-Justine, 3175 Cote Ste-Catherine, Montréal, Quebec H3T 1C5, Canada.

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http://dx.doi.org/10.1242/dev.02142DOI Listing
December 2005

Regionalization of the anterior hypothalamus in the chick embryo.

Dev Dyn 2005 Jun;233(2):652-8

Research Center, Hôpital Sainte-Justine, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/dvdy.20372DOI Listing
June 2005

Sim2 contributes to neuroendocrine hormone gene expression in the anterior hypothalamus.

Mol Endocrinol 2004 May 26;18(5):1251-62. Epub 2004 Feb 26.

Department of Embryology, Carnegie Institution of Washington, 115 West University Parkway, Baltimore, Maryland 21210, USA.

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http://dx.doi.org/10.1210/me.2003-0372DOI Listing
May 2004

Regulatory interaction between arylhydrocarbon receptor and SIM1, two basic helix-loop-helix PAS proteins involved in the control of food intake.

J Biol Chem 2004 Mar 1;279(10):9306-12. Epub 2003 Dec 1.

Research Center, Hôpital Sainte-Justine, 3175 Côte Sainte-Catherine, Montréal, Québec H3T 1C5, Canada.

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http://dx.doi.org/10.1074/jbc.M307927200DOI Listing
March 2004

G protein-coupled receptor-dependent development of human frontal cortex.

Science 2004 Mar;303(5666):2033-6

Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1126/science.1092780DOI Listing
March 2004

Sim2 mutants have developmental defects not overlapping with those of Sim1 mutants.

Mol Cell Biol 2002 Jun;22(12):4147-57

Department of Embryology, Carnegie Institution of Washington, Baltimore, Maryland 21210, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC133848PMC
http://dx.doi.org/10.1128/mcb.22.12.4147-4157.2002DOI Listing
June 2002