Publications by authors named "Jacques Michaud"

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CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.
Haoling Xu, Zhen Liu, Fadi F Hamdan, Shengnan Wu, Mei He, Jacques L Michaud

HGG Adv· November 2025

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The evolution of health data ecosystems: An international survey.
Jordan P Lerner-Ellis, E Magda Price, Shazia Subhani, Tiffany Boughtwood, Marie-Jo Brion, Jacques L Michaud

Am J Hum Genet· August 2025

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Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex.
Ruggiero Francavilla, Bidisha Chattopadhyaya, Jorelle Linda Damo Kamda, Vidya Jadhav, Said Kourrich, Jacques L Michaud

Elife· August 2025

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Developmental Haploinsufficiency in Medial Ganglionic Eminence-Derived Interneurons Impairs Auditory Cortex Activity, Social Behavior, and Extinction of Fear Memory.
Vidya Jadhav, Maria Isabel Carreno-Munoz, Pegah Chehrazi, Jacques L Michaud, Bidisha Chattopadhyaya

J Neurosci· December 2024

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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Maria Carla Borroto, Heena Patel, Siddharth Srivastava, Lindsay C Swanson, Boris Keren, Jacques L Michaud

Pediatr Neurol· November 2024

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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.
Maolei Gong, Jiayi Li, Zailong Qin, Matheus Vernet Machado Bressan Wilke, Yijun Liu, Jacques L Michaud

Am J Hum Genet· November 2024

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Loss of tissue-type plasminogen activator causes multiple developmental anomalies.
Kevin Uguen, Tanja Frey, Osama Muthaffar, Jean-Claude Décarie, Najim Ameziane, Jacques L Michaud

Brain Commun· November 2024

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Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.
Kevin Uguen, Jacques L Michaud, Emmanuelle Génin

Eur J Hum Genet· September 2024

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Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Jacques L Michaud

Nat Genet· April 2024

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Unraveling the role of non-coding rare variants in epilepsy.
Alexandre Girard, Claudia Moreau, Jacques L Michaud, Berge Minassian, Patrick Cossette

PLoS One· September 2023

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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Jacques L Michaud

Genet Med· August 2023

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Disruption Induced by Recombination between Inverted loxP Sites Is Associated with Hippocampal Interneuron Dysfunction.
Abdessattar Khlaifia, Vidya Jadhav, Marc Danik, Théo Badra, Martin H Berryer, Jacques L Michaud

eNeuro· May 2023

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Bi-allelic variants in disrupt the development of multiple organs in humans.
Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Jacques L Michaud

J Med Genet· March 2023

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coding variants in the gene cause a neurodevelopmental disorder with intellectual disability.
Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Vincent Michaud, Jacques L Michaud

J Med Genet· October 2022

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Assessment of burden and segregation profiles of CNVs in patients with epilepsy.
Claudia Moreau, Frédérique Tremblay, Stefan Wolking, Alexandre Girard, Catherine Laprise, Jacques L Michaud

Ann Clin Transl Neurol· July 2022

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The role of common genetic variation in presumed monogenic epilepsies.
Ciarán Campbell, Costin Leu, Yen-Chen Anne Feng, Stefan Wolking, Claudia Moreau, Jacques L Michaud

EBioMedicine· July 2022

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Sensory processing dysregulations as reliable translational biomarkers in SYNGAP1 haploinsufficiency.
Maria Isabel Carreño-Muñoz, Bidisha Chattopadhyaya, Kristian Agbogba, Valérie Côté, Siyan Wang, Jacques L Michaud

Brain· April 2022

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Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Hans-Jürgen Kreienkamp, Matias Wagner, Heike Weigand, Allyn McConkie-Rossell, Marie McDonald, Jacques L Michaud

Hum Genet· February 2022

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Ectopic expression of and in the paraventricular nucleus of the hypothalamus contributes to defects in haploinsufficiency.
Joe Eun Son, Zhengchao Dou, Siyi Wanggou, Jade Chan, Rong Mo, Jacques L Michaud

Sci Adv· October 2021

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Differential auditory brain response abnormalities in two intellectual disability conditions: SYNGAP1 mutations and Down syndrome.
Valérie Côté, Inga S Knoth, Kristian Agbogba, Phetsamone Vannasing, Lucie Côté, Jacques L Michaud

Clin Neurophysiol· August 2021

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Preface.
Anne Gallagher, Christine Bulteau, David Cohen, Jacques L Michaud

Handb Clin Neurol· July 2021

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Preface.
Anne Gallagher, Christine Bulteau, David Cohen, Jacques L Michaud

Handb Clin Neurol· July 2021

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Distinct patterns of repetition suppression in Fragile X syndrome, down syndrome, tuberous sclerosis complex and mutations in SYNGAP1.
Valérie Côté, Ève Lalancette, Inga S Knoth, Lucie Côté, Kristian Agbogba, Jacques Michaud

Brain Res· January 2021

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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Amy L Schneider, Candace T Myers, Alison M Muir, Sophie Calvert, Alice Basinger, Jacques L Michaud

Epilepsia· January 2021

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