Author: Yann Herault

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Preprints

Human and mouse essentiality screens as a resource for disease gene discovery

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BIN1 genetic risk factor for Alzheimer is sufficient to induce early structural tract alterations in entorhinal cortex-dentate gyrus pathway and related hippocampal multi-scale impairments

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  • In neuroscience: 4,348
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Oligogenic effects of 16p11.2 copy number variation on craniofacial development

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  • In genetics: 2,623
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BIN1 recovers tauopathy-induced long-term memory deficits in mice and interacts with Tau through Thr348 phosphorylation

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  • In neuroscience: 8,556
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Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus

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  • In genomics: 4,963
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The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients

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  • In genetics: 3,298
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Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a

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DYRK1A up-regulation specifically impairs a presynaptic form of long-term potentiation

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Multi-influential interactions alters behaviour and cognition through six main biological cascades in Down syndrome mouse models

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Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease

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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

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  • In genetic and genomic medicine: 412
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Targeting the RHOA pathway improves learning and memory in Kctd13 and 16p11.2 deletion mouse models.

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  • In animal behavior and cognition: 1,395
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  • Site-wide: 72,209
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Identifying Causative Mechanisms Linking Early-Life Stress to Psycho-Cardio-Metabolic Multi-Morbidity: The EarlyCause Project

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  • In neuroscience: 17,367
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The effects of CSTB duplication on APP/amyloid-β pathology and cathepsin activity in a mouse model

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