Author

Gwenaël Le Guyader

InsermORCID 0000-0003-2847-8121Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Research Focus:cell-cell communication· 1 Organism:Drosophila· 1 Organism:human· 1

Frequent Co-Authors

Frédéric BilaniD· 3 shared Adam JacksoniD· 1 shared Alexander P.A. StegmanniD· 1 shared Allan BayatiD· 1 shared Ana Beleza‐MeirelesiD· 1 shared Anne Michele SlavotinekiD· 1 shared Billur Moghaddam· 1 shared Boris KereniD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Frédéric BilanORCID

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3 papers

Recent·Most cited

GeneticsDisease Models & MechanismsPeer-reviewedJul 20, 2023

AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder with incomplete penetrance

Sara A. Lewis, Somayeh Bakhtiari, Jacob Forstrom…·Michael C. Kruer

The paper describes three patients with AGAP1 deletion variants and uses a Drosophila model to identify endolysosomal trafficking defects and stress response abnormalities linked to neurodevelopmental disorders.

10 citations

Drosophilaexperimental assay

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Genetic & Genomic MedicineAnnals of NeurologyPeer-reviewedAug 19, 2022

De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission

Konrad Platzer, Heinrich Sticht, Caleb P. Bupp…·Sonja M. Wojcik

This study identifies de novo missense variants in SLC32A1 as a cause of a neurodevelopmental disorder with epilepsy, showing they impair GABAergic neurotransmission through two mechanisms.

26 citations

humanstatistical model

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Genetic & Genomic MedicineGenome MedicinePeer-reviewedMay 21, 2021

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Ilaria Mannucci, Nghi Doan-Phuong Dang, Hannes Huber…·Davor Lessel

This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

35 citations

zebrafishstatistical model

𝕏 PostBluesky