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Ophthalmic Genetics|November 29, 2024
The phenotypic spectrum of CEP250 gene variantsCécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, et al.Investigative Ophthalmology & Visual Science|February 17, 2018
A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and PolyaminesStéphanie Leruez, Thomas Bresson, Juan M Chao de la Barca, et al.Journal of Cell Science|April 21, 2017
CLUH couples mitochondrial distribution to the energetic and metabolic statusJamal Wakim, David Goudenege, Rodolphe Perrot, et al.Human Mutation|February 13, 2004
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophyOlivier Baris, Cécile Delettre, Patrizia Amati-Bonneau, et al.European Journal of Human Genetics : EJHG|October 16, 2014
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinomaJean-Benoît Courcet, Siham Chafai Elalaoui, Laurence Duplomb, et al.Human Mutation|August 6, 2019
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to lightPhilippine Garret, Céline Bris, Vincent Procaccio, et al.European Journal of Human Genetics : EJHG|November 30, 2022
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohortPhilippine Garret, Martin Chevarin, Antonio Vitobello, et al.Acta Dermato-Venereologica|November 8, 2017
Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPEAnnabel Maruani, Marine Durieux-Verde, Juliette Mazereeuw-Hautier, et al.Movement Disorders : Official Journal of the Movement Disorder Society|April 25, 2017
A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's diseaseChristophe Verny, Anne-Catherine Bachoud-Lévi, Alexandra Durr, et al.Investigative Ophthalmology & Visual Science|March 26, 2011
Four-year follow-up of diagnostic service in USH1 patientsAnne-Françoise Roux, Valérie Faugère, Christel Vaché, et al.Pageof 33