Jacques L. Michaud

Leibniz University Hannover — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

67h-index16.0kcitations236works2.92yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(61), Genomics and Rare Diseases(41), Genomic variations and chromosomal abnormalities(38), Neuroscience and Neuropharmacology Research(16), Epigenetics and DNA Methylation(14)

Publications235 total

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly
Human Genetics and Genomics Advances·2025Open Access
Magmatic–Hydrothermal Transition of Granitic System: Evidence from Mineral Reaction Overprints in the Homrit Waggat Granite Intrusion (Central Eastern Desert, Egypt)
Acta Geologica Sinica - English Edition·2025· 1 cited
Interstitial lung disease: a 2-year-old child with ABCA3 deficiency treated by CFTR potentiators
2025
The evolution of health data ecosystems: An international survey
The American Journal of Human Genetics·2025Open Access
Author Response: Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex
2025Open Access
Author response: Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex
2024Open Access
Developmental<i>Syngap1</i>Haploinsufficiency in Medial Ganglionic Eminence-Derived Interneurons Impairs Auditory Cortex Activity, Social Behavior, and Extinction of Fear Memory
Journal of Neuroscience·2024· 9 citedOpen Access
Review for "Genotype–Phenotype Correlations in &lt;i&gt;SYNGAP1&lt;/i&gt;‐Related Mental Retardation Type 5"
2024
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder
Pediatric Neurology·2024· 2 citedOpen Access
Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases
European Journal of Human Genetics·2024· 10 citedOpen Access
From ID-TIMS U-Pb dating of single monazite grain to APT-nanogeochronology: application to the UHT granulites of Andriamena (North-Central Madagascar)
Bulletin de la Société Géologique de France·2024Open Access
Reviewer #3 (Public Review): Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex
2024Open Access
Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex
2024· 2 citedOpen Access
Reviewer #2 (Public Review): Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex
2024Open Access
Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex
2024· 1 citedOpen Access
Reviewer #1 (Public Review): Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex
2024Open Access
Author response: Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex
2024Open Access
<i>MARK2</i> variants cause autism spectrum disorder <i>via</i> the downregulation of WNT/β-catenin signaling pathway
2024Open Access
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
Nature Genetics·2024· 37 cited
<i>Syngap1</i> regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex
2024Open Access
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Frequent Co-authors

Fadi F. Hamdan(20), Guy A. Rouleau(20), Sylvia Dobrzeniecka(10), Lysanne Patry(9), Mark E. Samuels(9), Julie Gauthier(9), Laurent Mottron(8), Jacek Majewski(7), Amélie Piton(7), Grant A. Mitchell(7), Ronald G. Lafrenière(7), Pierre Drapeau(7), Éric Fombonne(7), Myriam Srour(6), Dan Spiegelman(6), Ridha Joober(6), José‐Mario Capo‐Chichi(5), Jeremy Schwartzentruber(5), Kym M. Boycott(5), Lionel Carmant(5)