A landscape of germ line mutations in a cohort of inherited bone marrow failure patients
Bluteau, Olivier, Sebert, Marie, Leblanc, Thierry, Peffault de Latour, Régis, Quentin, Samuel, Lainey, Elodie, Hernandez, Lucie, Dalle, Jean-Hugues, Sicre de Fontbrune, Flore, Lengline, Etienne, Itzykson, Raphael, Clappier, Emmanuelle, Boissel, Nicolas, Vasquez, Nadia, Da Costa, Mélanie, Masliah-Planchon, Julien, Cuccuini, Wendy, Raimbault, Anna, De Jaegere, Louis, Adès, Lionel, Fenaux, Pierre, Maury, Sébastien, Schmitt, Claudine, Muller, Marc, Domenech, Carine, Blin, Nicolas, Bruno, Bénédicte, Pellier, Isabelle, Hunault, Mathilde, Blanche, Stéphane, Petit, Arnaud, Leverger, Guy, Michel, Gérard, Bertrand, Yves, Baruchel, André, Socié, Gérard, Soulier, Jean
Published in Blood (15.02.2018)
Published in Blood (15.02.2018)
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Germline DDX41 mutations define a significant entity within adult MDS/AML patients
Sébert, Marie, Passet, Marie, Raimbault, Anna, Rahmé, Ramy, Raffoux, Emmanuel, Sicre de Fontbrune, Flore, Cerrano, Marco, Quentin, Samuel, Vasquez, Nadia, Da Costa, Mélanie, Boissel, Nicolas, Dombret, Hervé, Peffault de Latour, Régis, Socié, Gérard, Itzykson, Raphaël, Fenaux, Pierre, Soulier, Jean, Adès, Lionel, Clappier, Emmanuelle
Published in Blood (24.10.2019)
Published in Blood (24.10.2019)
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Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia
Sebert, Marie, Gachet, Stéphanie, Leblanc, Thierry, Rousseau, Alix, Bluteau, Olivier, Kim, Rathana, Ben Abdelali, Raouf, Sicre de Fontbrune, Flore, Maillard, Loïc, Fedronie, Carèle, Murigneux, Valentine, Bellenger, Léa, Naouar, Naira, Quentin, Samuel, Hernandez, Lucie, Vasquez, Nadia, Da Costa, Mélanie, Prata, Pedro H., Larcher, Lise, de Tersant, Marie, Duchmann, Matthieu, Raimbault, Anna, Trimoreau, Franck, Fenneteau, Odile, Cuccuini, Wendy, Gachard, Nathalie, Auger, Nathalie, Tueur, Giulia, Blanluet, Maud, Gazin, Claude, Souyri, Michèle, Langa Vives, Francina, Mendez-Bermudez, Aaron, Lapillonne, Hélène, Lengline, Etienne, Raffoux, Emmanuel, Fenaux, Pierre, Adès, Lionel, Forcade, Edouard, Jubert, Charlotte, Domenech, Carine, Strullu, Marion, Bruno, Bénédicte, Buchbinder, Nimrod, Thomas, Caroline, Petit, Arnaud, Leverger, Guy, Michel, Gérard, Cavazzana, Marina, Gluckman, Eliane, Bertrand, Yves, Boissel, Nicolas, Baruchel, André, Dalle, Jean-Hugues, Clappier, Emmanuelle, Gilson, Eric, Deriano, Ludovic, Chevret, Sylvie, Sigaux, François, Socié, Gérard, Stoppa-Lyonnet, Dominique, de Thé, Hugues, Antoniewski, Christophe, Bluteau, Dominique, Peffault de Latour, Régis, Soulier, Jean
Published in Cell stem cell (02.02.2023)
Published in Cell stem cell (02.02.2023)
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A clickable melphalan for monitoring DNA interstrand crosslink accumulation and detecting ICL repair defects in Fanconi anemia patient cells
Berrada, Sara, Martínez-Balsalobre, Elena, Larcher, Lise, Azzoni, Violette, Vasquez, Nadia, Da Costa, Mélanie, Abel, Sébastien, Audoly, Gilles, Lee, Lara, Montersino, Camille, Castellano, Rémy, Combes, Sébastien, Gelot, Camille, Ceccaldi, Raphaël, Guervilly, Jean-Hugues, Soulier, Jean, Lachaud, Christophe
Published in Nucleic acids research (25.08.2023)
Published in Nucleic acids research (25.08.2023)
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Involvement of PBRM1 in VHL disease‑associated clear cell renal cell carcinoma and its putative relationship with the HIF pathway
Gad, Sophie, Teuff, Gwenail Le, Nguyen, Baptiste, Verkarre, Virginie, Duchatelle, Veronique, Molinie, Vincent, Posseme, Katia, Grandon, Benjamin, Costa, Melanie Da, Job, Bastien, Meurice, Guillaume, Droin, Nathalie, Mejean, Arnaud, Couve, Sophie, Renaud, Flore, Gardie, Betty, Teh, Bin Tean, Richard, Stephane, Ferlicot, Sophie
Published in Oncology letters (01.12.2021)
Published in Oncology letters (01.12.2021)
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Germline CHEK2 mutations in patients with myeloid neoplasms
Freiman, Lucie, Larcher, Lise, Tueur, Giulia, Vasquez, Nadia, Da Costa, Mélanie, Duchmann, Matthieu, Raffoux, Emmanuel, Adès, Lionel, Fenaux, Pierre, Soulier, Jean, Duployez, Nicolas, Clappier, Emmanuelle, Sébert, Marie
Published in Leukemia (01.04.2024)
Published in Leukemia (01.04.2024)
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A germline mutation in PBRM1 predisposes to renal cell carcinoma
Benusiglio, Patrick R, Couvé, Sophie, Gilbert-Dussardier, Brigitte, Deveaux, Sophie, Le Jeune, Hélène, Da Costa, Mélanie, Fromont, Gaëlle, Memeteau, Françoise, Yacoub, Mokrane, Coupier, Isabelle, Leroux, Dominique, Méjean, Arnaud, Escudier, Bernard, Giraud, Sophie, Gimenez-Roqueplo, Anne-Paule, Blondel, Christophe, Frouin, Eric, Teh, Bin T, Ferlicot, Sophie, Bressac-de Paillerets, Brigitte, Richard, Stéphane, Gad, Sophie
Published in Journal of medical genetics (01.06.2015)
Published in Journal of medical genetics (01.06.2015)
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Characteristics of Germline CHEK2 Mutated Patients in a Large Cohort of 2322 Myeloid Malignancies
Freiman, Lucie, Larcher, Lise, Tueur, Giulia, Vasquez, Nadia, Da Costa, Mélanie, Raffoux, Emmanuel, Ades, Lionel, Fenaux, Pierre, Soulier, Jean, Clappier, Emmanuelle, Itzykson, Raphael
Published in Blood (15.11.2022)
Published in Blood (15.11.2022)
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