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Genes|December 24, 2021
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome BKhouloud Zayoud, Ichraf Kraoua, Asma Chikhaoui, et al.
Frontiers in Neuroscience|April 10, 2025
Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndromeNicolas Le May, Jérémie Courraud, Imène Boujelbène, et al.
Clinical Genetics|June 20, 2020
Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counselingSarah Baer, Cathy Obringer, Sophie Julia, et al.
European Journal of Medical Genetics|January 25, 2020
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrumBenjamin Durand, Corinne Stoetzel, Elise Schaefer, et al.
American Journal of Medical Genetics. Part A|February 14, 2020
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literaturePauline Le Van Quyen, Nadège Calmels, Maryse Bonnière, et al.
European Journal of Medical Genetics|November 23, 2020
Growth charts in Cockayne syndrome type 1 and type 2Sarah Baer, Nicolas Tuzin, Peter B Kang, et al.
Journal of Neurology|January 24, 2024
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?Thomas Wirth, Céline Bonnet, Clarisse Delvallée, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 4, 2024
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic DyskinesiaThomas Wirth, Emmanuel Roze, Clarisse Delvallée, et al.
European Journal of Human Genetics : EJHG|June 5, 2025
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French networkMarie-Pierre Buisine, Christine Bellanne-Chantelot, Nadège Calmels, et al.
Skeletal Muscle|August 10, 2020
X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisationInès Barthélémy, Nadège Calmels, Robert B Weiss, et al.
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