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The Journal of Allergy and Clinical Immunology|March 3, 2017
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmentiElodie Bal, Emmanuel Laplantine, Yamina Hamel, et al.The British Journal of Ophthalmology|November 26, 2018
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR geneSolene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.Journal of Medical Genetics|July 26, 2023
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disordersKevin Riquin, Bertrand Isidor, Sandra Mercier, et al.Neurobiology of Disease|August 28, 2015
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiologyJuan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, et al.Human Genetics|January 26, 2020
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosisPauline Arnaud, Caroline Racine, Nadine Hanna, et al.BMJ Open|January 14, 2025
A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocolMaxime Luu, Pierre Vabres, Aurélie Espitalier, et al.Annals of Neurology|October 22, 2005
OPA1 R445H mutation in optic atrophy associated with sensorineural deafnessPatrizia Amati-Bonneau, Agnès Guichet, Aurélien Olichon, et al.Investigative Ophthalmology & Visual Science|September 8, 2018
A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines DeficiencyStéphanie Leruez, Alexandre Marill, Thomas Bresson, et al.Investigative Ophthalmology & Visual Science|January 18, 2018
A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related DisordersCinzia Bocca, Judith Kouassi Nzoughet, Stéphanie Leruez, et al.American Journal of Medical Genetics. Part A|December 4, 2019
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorderMarine Tessarech, Magali Gorce, Françoise Boussion, et al.Pageof 33