Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Autor: Anne-Claire Richard, Anne Rovelet-Lecrux, Dominique Campion, Sophie Coutant, Kilan Le Guennec, Jean-François Deleuze, Gaëlle Bougeard, Mathieu Castelain, Nathalie Drouot, Pascal Chambon, Stéphanie Vasseur, Thierry Frebourg, Jacqueline Bou, François Lecoquierre, Anne Boland, Géraldine Joly-Helas, Kévin Cassinari, Gaël Nicolas, Stéphane Rousseau, Steeve Fourneaux, Gwendoline Lienard, Edwige Kasper, Myriam Vezain, Pascale Saugier-Veber, Isabelle Tournier, Nathalie Le Meur, Olivier Quenez, Françoise Charbonnier, Emilie Bouvignies, Virginie N'Guyen-Viet, Stéphanie Baert-Desurmont, Sandrine Manase

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0672-2⟩
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Eur J Hum Genet

International audience; The detection of copy-number variations (CNVs) from NGS data is underexploited as chip-based or targeted techniques are still commonly used. We assessed the performances of a workflow centered on CANOES, a bioinformatics tool

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00a6f3ab544384d46aa5c88805403359
https://doi.org/10.1038/s41431-020-0672-2

Author response for 'Further delineation of the NTHL1 associated syndrome: a report from the French oncogenetic consortium'

Autor: Vincent Goussot, Véronica Cusin, Flavie Boulouard, Nancy Uhrhammer, Jacques Mauillon, Sophie Lejeune, Stéphanie Vasseur, Michel Bahuau, Stéphanie Baert-Desurmont, Emmanuelle Barouk Simonet, Lisa Golmard, Marion Dhooge, Camille Tlemsani, Sandrine Manase, Thierry Frebourg, Gwendoline Lienard, Marie-Pascale Beaumont, Edwige Kasper, Marie-Pierre Buisine, Gaëlle Bougeard, Virginie Bubien, Nadim Hamzaoui, Jean-Marc Rey, Stéphane Pinson, Florence Coulet, Claude Houdayer, Elodie Lacaze, Christine Toulas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f572fec906a93582c2637fd3a21b1b10
https://doi.org/10.1111/cge.13925/v2/response1

CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy.

Autor: Mathieu Barbier, Audrey Sabbagh, Edwige Kasper, Muriel Asheuer, Ornella Ahouansou, Ingrid Pribill, Sonja Forss-Petter, Michel Vidaud, Johannes Berger, Patrick Aubourg

Publikováno v: PLoS ONE, Vol 7, Iss 1, p e29872 (2012)

X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD). X-ALD is caused by mutations in the ABCD1 gene, but no genotype-phenotype correlation ha

Externí odkaz: https://doaj.org/article/7788fa683a194f05a9e8aadcf5cf8943

Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutations

Autor: Edwige Kasper, Camille Charbonnier, Sabine Raad, Jean-Michel Flaman, Gaëlle Bougeard, Emilie Angot, Jean-Christophe Sabourin, Yann Lacoume, Lionel Nicol, Thierry Frebourg, Sahil Adriouch, Elodie Colasse

Publikováno v: HAL
European Journal of Cancer
European Journal of Cancer, Elsevier, 2018, ⟨10.1016/j.ejca.2018.06.011⟩
European Journal of Cancer, Elsevier, 2018, 101, pp.254-262. ⟨10.1016/j.ejca.2018.06.011⟩

International audience; IntroductionLi-Fraumeni syndrome (LFS), due to TP53 germline mutations, is characterised by a remarkably high incidence of multiple primary cancers (MPCs), and the key role of p53 in response to DNA damage questions the contri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::798ed388128418bba51393da2453f438
https://pubmed.ncbi.nlm.nih.gov/30072235

A new genotoxicity assay based on p53 target gene induction

Autor: Jean-Michel Flaman, Gaëlle Bougeard, Soubigou F, Edwige Kasper, Thierry Frebourg, Yasmine Zerdoumi, Sahil Adriouch

Publikováno v: Mutation Research/Genetic Toxicology and Environmental Mutagenesis
Mutation Research/Genetic Toxicology and Environmental Mutagenesis, 2015, 789-790, pp.28-35. ⟨10.1016/j.mrgentox.2015.05.010⟩

The p53 tumor suppressor protein has emerged as a universal sensor of genotoxic stress that regulates the transcription of numerous genes required for appropriate cellular response to DNA damage. Therefore, transcriptional induction of p53 target gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::826f5991a926c38855e01a66ac7de759
https://doi.org/10.1016/j.mrgentox.2015.05.010