Publications by authors named "Andre Blavier"

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Functional and Molecular Characterization of New Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
Julie Rochat, André Blavier, Séverine Ruet, Sophie Vasseur, Angela Puma

Genes (Basel)· May 2024

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Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements.
Hélène Tubeuf, Camille Charbonnier, Omar Soukarieh, André Blavier, Arnaud Lefebvre

Hum Mutat· October 2020

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VaRank: a simple and powerful tool for ranking genetic variants.
Véronique Geoffroy, Cécile Pizot, Claire Redin, Amélie Piton, Nasim Vasli, André Blavier

PeerJ· March 2015

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A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.
Jeroen F J Laros, André Blavier, Johan T den Dunnen, Peter E M Taschner

BMC Bioinformatics· December 2011

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Pitfalls in the use of DGV for CNV interpretation.
Aude Duclos, Françoise Charbonnier, Pascal Chambon, Jean-Baptiste Latouche, André Blavier

Am J Med Genet A· October 2011

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