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Genes, Chromosomes & Cancer|February 20, 2019
A recurrent clonally distinct Burkitt lymphoma case highlights genetic key events contributing to oncogenesisDominique Penther, Pierre-Julien Viailly, Sylvain Latour, et al.
The Journal of Molecular Diagnostics : JMD|July 25, 2025
Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing AnalysisJulie Amiot, Corentin Levacher, Louise May Thibaut, et al.
Ebiomedicine|December 10, 2025
Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndromeEmilie Montellier, Olivier Manches, Jonathan Gaucher, et al.
European Journal of Human Genetics : EJHG|July 4, 2018
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genesStéphanie Baert-Desurmont, Sophie Coutant, Françoise Charbonnier, et al.
Frontiers in Oncology|November 28, 2022
Postoperative circulating tumor DNA detection is associated with the risk of recurrence in patients resected for a stage II colorectal cancerAdrien Grancher, Ludivine Beaussire, Sylvain Manfredi, et al.
American Journal of Medical Genetics. Part A|August 8, 2019
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorderFrançois Lecoquierre, Antoine Bonnevalle, Alexandra Chadie, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 25, 2018
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigationBénédicte Sudrié-Arnaud, Florent Marguet, Sophie Patrier, et al.
Neurology|December 21, 2012
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcificationGaël Nicolas, Cyril Pottier, David Maltête, et al.
Human Mutation|December 5, 2013
Germline mutations of inhibins in early-onset ovarian epithelial tumorsIsabelle Tournier, Régine Marlin, Kelly Walton, et al.
Human Mutation|July 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patientsJuliette Coursimault, Kévin Cassinari, François Lecoquierre, et al.
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