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European Journal of Human Genetics : EJHG|May 1, 2018
Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patientsJulien Masliah-Planchon, Dominique Lévy, Delphine Héron, et al.European Journal of Human Genetics : EJHG|August 9, 2018
Association of modifiers and other genetic factors explain Marfan syndrome clinical variabilityMelodie Aubart, Steven Gazal, Pauline Arnaud, et al.Journal of Neuromuscular Diseases|July 8, 2025
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in FranceLamiae Grimaldi, Rocio Garcia-Uzquiano, Marta Gomez-Garcia de la Banda, et al.Journal of Inherited Metabolic Disease|September 20, 2017
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profilesAlice Kuster, Jean-Baptiste Arnoux, Magalie Barth, et al.Molecular Genetics and Metabolism|August 14, 2025
Childhood POLG-related disorders: Focus on polyradiculoneuropathyClaire-Marine Bérat, Marie Hully, Agnès Rötig, et al.Neurology. Genetics|June 8, 2026
Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case SeriesGianmarco Severa, Christine Barnerias, Cyril Gitiaux, et al.European Journal of Human Genetics : EJHG|April 1, 2004
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European familiesLouis Viollet, Mohammed Zarhrate, Isabelle Maystadt, et al.Birth Defects Research|September 7, 2021
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutationSuzanne Chartier, Lucile Boutaud, Edouard Le Guillou, et al.Pediatric Research|August 2, 2008
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndromeLoic De Pontual, Delphine Trochet, Sophie Caillat-Zucman, et al.JAMA Network Open|October 8, 2025
Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1Juliette Ropars, Claude Cances, Rocio Garcia-Uzquiano, et al.Pageof 24