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Journal of Medical Genetics|October 27, 2017
Contribution of de novo and mosaic <i>TP53</i> mutations to Li-Fraumeni syndromeMariette Renaux-Petel, Françoise Charbonnier, Jean-Christophe Théry, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2022
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routineKevin Yauy, François Lecoquierre, Stéphanie Baert-Desurmont, et al.Human Mutation|February 15, 2020
Exome sequencing identifies the first genetic determinants of sirenomelia in humansFrançois Lecoquierre, Anne-Claire Brehin, Sophie Coutant, et al.European Journal of Human Genetics : EJHG|June 28, 2020
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluationOlivier Quenez, Kevin Cassinari, Sophie Coutant, et al.European Journal of Human Genetics : EJHG|August 6, 2015
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessonsGaël Nicolas, David Wallon, Camille Charbonnier, 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 4