Isabelle Rouvet
Groupe Hospitalier Est, Hospices Civils De Lyon
Bron, 69677, France
Bron, 69677, France
Last Updated: 09/26/2026
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Found 22 publications
A fetus with severe developmental defects caused by dominant-negative and hypomorphic ATG7 alleles.
Journal: Autophagy
Published: May 20, 2026
Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall.
Journal: Annals of clinical and translational neurology
Published: February 07, 2026
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: May 22, 2023
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
Journal: Journal of clinical immunology
Published: May 06, 2021
Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark of Multisystem Inflammatory Syndrome in Children.
Journal: Science immunology
Published: February 19, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Journal: Brain : a journal of neurology
Published: December 22, 2020
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Journal: Nature communications
Published: March 01, 2020
DNA-PK deficiency potentiates cGAS-mediated antiviral innate immunity.
Journal: Nature communications
Published: February 05, 2020
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.
Journal: The Lancet. Rheumatology
Published: September 10, 2019
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
Journal: Journal of inherited metabolic disease
Published: October 10, 2016
Last Updated: 09/26/2026