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Genes|February 25, 2022
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation SequencingThibaut Benquey, Emmanuelle Pion, Mireille Cossée, et al.
Nature|August 27, 2014
A major advance of tropical Andean glaciers during the Antarctic cold reversalV Jomelli, V Favier, M Vuille, et al.
European Journal of Human Genetics : EJHG|April 19, 2019
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2Alessia Peretti, Maud Perie, Didier Vincent, et al.
The Journal of Pathology. Clinical Research|August 9, 2016
Rapid and reliable diagnosis of Wilson disease using X-ray fluorescenceSlávka Kaščáková, Cameron M Kewish, Stéphan Rouzière, et al.
European Journal of Neurology|April 22, 2025
TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023Abd El Kader Ait Tayeb, Pauline Chazelas, Vianney Poinsignon, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 26, 2018
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset ObesityPatrick Hanna, Virginie Grybek, Guiomar Perez de Nanclares, et al.
Orphanet Journal of Rare Diseases|June 10, 2025
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosisAurélien Palmyre, Fairouz Koraichi, Flavie Ader, et al.
European Journal of Neurology|June 1, 2021
Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective studyFabien Hauw, Guillaume Fargeot, David Adams, et al.
Clinical Chemistry|December 6, 2021
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical LaboratoryKenneth Chappell, Bruno Francou, Christophe Habib, et al.
Annals of Clinical and Translational Neurology|May 4, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohortCécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, et al.
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