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Clinical Genetics|December 6, 2021
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosumRoseline Vibert, Cyril Mignot, Boris Keren, et al.Brain : a Journal of Neurology|October 4, 2017
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cellsMara Cavallin, Maria A Rujano, Nathalie Bednarek, et al.European Journal of Medical Genetics|September 15, 2023
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of FranceAllan Lançon, Amandine Beaudouin, Laetitia Lambert, et al.European Journal of Human Genetics : EJHG|October 29, 2015
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGHCéline Poirsier, Justine Besseau-Ayasse, Caroline Schluth-Bolard, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2022
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signatureFlavien Rouxel, Raissa Relator, Jennifer Kerkhof, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 19, 2022
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndromeEissa A Faqeih, Malak Ali Alghamdi, Marwa A Almahroos, et al.Frontiers in Cell and Developmental Biology|March 17, 2023
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disordersEstelle Colin, Yannis Duffourd, Martin Chevarin, et al.Clinical Genetics|July 24, 2026
Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With MacrocephalyNathalie Vanden Eynde, Lucas Hérissant, Emilie Landais, et al.American Journal of Medical Genetics. Part A|November 12, 2022
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patientsClémence Jacquin, Emilie Landais, Céline Poirsier, et al.Journal of Medical Genetics|March 19, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiencyAbdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, et al.Pageof 8