Olivier Quenez

13PUBLICATIONS
248CO-AUTHORS
NeurogeneticsNeurology and neuromuscular diseasesCancer geneticsEpigenetics (incl. genome methylation and epigenomics)Proteomics and metabolomics
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Publications (13)

|May 29, 2026
Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.

|Mar 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Viorica Chelban, Henriette Aksnes, Reza Maroofian

|Mar 03, 2024
Upstream open reading frame-introducing variants in patients with primary familial brain calcification.

Anne Rovelet-Lecrux, Antoine Bonnevalle, Olivier Quenez

|Nov 21, 2022
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.

Henne Holstege, Marc Hulsman, Camille Charbonnier

|Oct 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

Raphaël Leman, Béatrice Parfait, Dominique Vidaud

|Jul 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Juliette Coursimault, Kévin Cassinari, François Lecoquierre

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Frequent Collaborators

11 joint publications

Gael Nicolas

5 joint publications

Henne Holstege

5 joint publications

Julie Williams

5 joint publications

Jean-Charles Lambert