Jacques L. Michaud

Overview

Best Publications

• 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

  982
  Citations

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

  Xianhua Piao;Sean S. Hill;Adria Bodell;Bernard S. Chang

  560
  Citations

• Development of neuroendocrine lineages requires the bHLH–PAS transcription factor SIM1

  Jacques L. Michaud;Thomas Rosenquist;Noah R. May;Chen-Ming Fan

  522
  Citations

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

  Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  466
  Citations

• The mouse Engrailed-1 gene and ventral limb patterning

  Cynthia A. Loomis;Esther Harris;Jacques Michaud;Wolfgang Wurst

  435
  Citations

• De Novo Mutations in Moderate or Severe Intellectual Disability

  Fadi F. Hamdan;Myriam Srour;Jose-Mario Capo-Chichi;Hussein Daoud

  429
  Citations

• Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

  Fadi F. Hamdan;Julie Gauthier;Dan Spiegelman;Anne Noreau

  419
  Citations

• 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

  418
  Citations

• 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

  398
  Citations

• 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

  381
  Citations

• Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus

  Jacques L. Michaud;Francine Boucher;Anna Melnyk

  354
  Citations

• Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

  Julie Gauthier;Tabrez J. Siddiqui;Peng Huashan;Daisaku Yokomaku

  337
  Citations

• Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

  Martin H. Berryer;Fadi F. Hamdan;Laura L. Klitten;Rikke S. Møller

  298
  Citations

• FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

  Chandree L. Beaulieu;Jacek Majewski;Jeremy Schwartzentruber;Mark E. Samuels

  279
  Citations

• De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

  Fadi F. Hamdan;Hussein Daoud;Daniel Rochefort;Amélie Piton

  276
  Citations

• Rare Mutations in N-methyl-D-aspartate Glutamate Receptors in Autism Spectrum Disorders and Schizophrenia

  Tarabeux J;Tarabeux J;Tarabeux J;Kebir O;Kebir O;Gauthier J;Hamdan Ff

  264
  Citations

• Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

  Silvia Cappello;Mary J Gray;Caroline Badouel;Caroline Badouel;Simona Lange

  259
  Citations

• Neurologic crises in hereditary tyrosinemia.

  G Mitchell;J Larochelle;M Lambert;J Michaud

  249
  Citations

• Wolcott-Rallison Syndrome: Clinical, Genetic, and Functional Study of EIF2AK3 Mutations and Suggestion of Genetic Heterogeneity

  Valérie Senée;Krishna M. Vattem;Marc Delépine;Lynn A. Rainbow

  235
  Citations

• Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

  Duane L. Guernsey;Haiyan Jiang;Julie Hussin;Marc Arnold

  235
  Citations