David Baux
14PUBLICATIONS
31CO-AUTHORS
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Publications (14)
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|Mar 07, 2026
PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research.Victor Marin, Hugo Lannes, Victor Dumont
|Mar 20, 2025
Enhancing the annotation of small ORF-altering variants using MORFEE: introducing MORFEEdb, a comprehensive catalog of SNVs affecting upstream ORFs in human 5'UTRs.Caroline Meguerditchian, David Baux, Thomas E Ludwig
|Jul 05, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.Christel Vaché, Valérie Faugère, David Baux
|Jun 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.Mehdi Benkirane, Marion Bonhomme, Heba Morsy
|Apr 28, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.Kevin Yauy, Charles Van Goethem, Henri Pégeot
|Jul 27, 2022
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.Mehdi Benkirane, Dylan Da Cunha, Cecilia Marelli
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Frequent Collaborators
4 joint publications
Vasiliki Kalatzis
4 joint publications
Anne-Françoise Roux
3 joint publications
Luke Mansard
3 joint publications
Christel Vaché
2 joint publications
Mireille Cossée
2 joint publications
Thomas Guignard
2 joint publications
Charles Van Goethem
2 joint publications
Mehdi Benkirane
1 joint publications
Isabelle Meunier
1 joint publications
Mireille Claustres
