Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies von Suarez, Felipe, Mahlaoui, Nizar, Canioni, Danielle, Andriamanga, Chantal, Dubois d'Enghien, Catherine, Brousse, Nicole, Jais, Jean-Philippe, Fischer, Alain, Hermine, Olivier, Stoppa-Lyonnet, Dominique

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Biallelic inactivation of REV7 is associated with Fanconi anemia von Bluteau, Dominique, Masliah-Planchon, Julien, Clairmont, Connor, Rousseau, Alix, Ceccaldi, Raphael, Dubois d'Enghien, Catherine, Bluteau, Olivier, Cuccuini, Wendy, Gachet, Stéphanie, Peffault de Latour, Régis, Leblanc, Thierry, Socié, Gérard, Baruchel, André, Stoppa-Lyonnet, Dominique, D'Andrea, Alan D, Soulier, Jean

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The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia von Méneret, Aurélie, Ahmar-Beaugendre, Yara, Rieunier, Guillaume, Mahlaoui, Nizar, Gaymard, Bertrand, Apartis, Emmanuelle, Tranchant, Christine, Rivaud-Péchoux, Sophie, Degos, Bertrand, Benyahia, Baya, Suarez, Felipe, Maisonobe, Thierry, Koenig, Michel, Durr, Alexandra, Stern, Marc-Henri, Dubois d’Enghien, Catherine, Fischer, Alain, Vidailhet, Marie, Stoppa-Lyonnet, Dominique, Grabli, David, Anheim, Mathieu

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Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect von Fiévet, Alice, Bellanger, Dorine, Valence, Stéphanie, Mobuchon, Lenha, Afenjar, Alexandra, Giuliano, Fabienne, Dubois d'Enghien, Catherine, Parfait, Béatrice, Pedespan, Jean‐Michel, Auger, Nathalie, Rieunier, Guillaume, Collet, Agnès, Burglen, Lydie, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri

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DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility von Fiévet, Alice, Bellanger, Dorine, Zahed, Laila, Burglen, Lydie, Derrien, Anne‐Céline, Dubois d'Enghien, Catherine, Lespinasse, James, Parfait, Béatrice, Pedespan, Jean‐Michel, Rieunier, Guillaume, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri

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Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia von Bogliolo, Massimo, Bluteau, Dominique, Lespinasse, James, Pujol, Roser, Vasquez, Nadia, d'Enghien, Catherine Dubois, Stoppa-Lyonnet, Dominique, Leblanc, Thierry, Soulier, Jean, Surrallés, Jordi

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Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions von Quentin, Samuel, Cuccuini, Wendy, Ceccaldi, Raphael, Nibourel, Olivier, Pondarre, Corinne, Pagès, Marie-Pierre, Vasquez, Nadia, Dubois d'Enghien, Catherine, Larghero, Jérôme, Peffault de Latour, Régis, Rocha, Vanderson, Dalle, Jean-Hugues, Schneider, Pascale, Michallet, Mauricette, Michel, Gérard, Baruchel, André, Sigaux, François, Gluckman, Eliane, Leblanc, Thierry, Stoppa-Lyonnet, Dominique, Preudhomme, Claude, Socié, Gérard, Soulier, Jean

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Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants von Villy, Marie-Charlotte, Le Ven, Anaïs, Le Mentec, Marine, Masliah-Planchon, Julien, Houy, Alexandre, Bièche, Ivan, Vacher, Sophie, Vincent-Salomon, Anne, Dubois d'Enghien, Catherine, Schwartz, Mathias, Piperno-Neumann, Sophie, Matet, Alexandre, Malaise, Denis, Bubien, Virginie, Lortholary, Alain, Ait Omar, Amal, Cavaillé, Mathias, Stoppa-Lyonnet, Dominique, Cassoux, Nathalie, Stern, Marc-Henri, Rodrigues, Manuel, Golmard, Lisa, Colas, Chrystelle

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Mutiple DICER1‐related lesions associated with a germline deep intronic mutation von Verrier, Florian, Dubois d'Enghien, Catherine, Gauthier‐Villars, Marion, Bonadona, Valérie, Faure‐Conter, Cécile, Dijoud, Frédérique, Stoppa‐Lyonnet, Dominique, Houdayer, Claude, Golmard, Lisa

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Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations von JACQUEMIN, Virginie, RIEUNIER, Guillaume, JACOB, Sandrine, BELLANGER, Dorine, DUBOIS D'ENGHIEN, Catherine, LAUGE, Anthony, STOPPA-LYONNET, Dominique, STERN, Marc-Henri

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Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype von Micol, Romain, MD, MPH, PhD, Ben Slama, Lilia, PhD, Suarez, Felipe, MD, PhD, Le Mignot, Loïc, MSc, Beauté, Julien, MD, MSc, Mahlaoui, Nizar, MD, MSc, Dubois d’Enghien, Catherine, BSc, Laugé, Anthony, BSc, Hall, Janet, PhD, Couturier, Jérôme, MD, Vallée, Louis, MD, Delobel, Bruno, MD, Rivier, François, MD, PhD, Nguyen, Karine, MD, Billette de Villemeur, Thierry, MD, Stephan, Jean-Louis, MD, Bordigoni, Pierre, MD, Bertrand, Yves, MD, Aladjidi, Nathalie, MD, Pedespan, Jean-Michel, MD, Thomas, Caroline, MD, Pellier, Isabelle, MD, MSc, Koenig, Michel, MD, PhD, Hermine, Olivier, MD, PhD, Picard, Capucine, MD, PhD, Moshous, Despina, MD, PhD, Neven, Bénédicte, MD, PhD, Lanternier, Fanny, MD, Blanche, Stéphane, MD, Tardieu, Marc, MD, PhD, Debré, Marianne, MD, Fischer, Alain, MD, PhD, Stoppa-Lyonnet, Dominique, MD, PhD

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Histological Characteristics of Ataxia Telangiectasia Associated Lymphoproliferative Diseases. Results of the French Registry of Primary Immune Deficiencies von Canioni, Danielle, Mahlaoui, Nizar, Andriamanga, Chantal, Dubois d’Enghien, Catherine, Jais, Jean-Philippe, Fischer, Alain, Hermine, Olivier, Brousse, Nicole, Stoppa-Lyonnet, Dominique, Suarez, Felipe

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ATM Gene Mutation Detection Techniques and Functional Analysis von Rieunier, Guillaume, D’Enghien, Catherine Dubois, Fievet, Alice, Bellanger, Dorine, Stoppa-Lyonnet, Dominique, Stern, Marc-Henri

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High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis von Amouri, Ahlem, Talmoudi, Faten, Messaoud, Olfa, d'Enghien, Catherine D., Rekaya, Mariem B., Allegui, Ines, Azaiez, Héla, Kefi, Rym, Abdelhak, Ahlem, Meseddi, Sondes H., Torjemane, Lamia, Ouederni, Monia, Mellouli, Fethi, Abid, Héla B., Aissaoui, Lamia, Bejaoui, Mohamed, Othmen, Tarek B., Lyonnet, Dominique S., Soulier, Jean, Hachicha, Mongia, Dellagi, Koussay, Abdelhak, Sonia

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High frequency of exon 15 deletion in the FANCA gene in T unisian patients affected with F anconi anemia disease: implication for diagnosis von Amouri, Ahlem, Talmoudi, Faten, Messaoud, Olfa, d'Enghien, Catherine D., Rekaya, Mariem B., Allegui, Ines, Azaiez, Héla, Kefi, Rym, Abdelhak, Ahlem, Meseddi, Sondes H., Torjemane, Lamia, Ouederni, Monia, Mellouli, Fethi, Abid, Héla B., Aissaoui, Lamia, Bejaoui, Mohamed, Othmen, Tarek B., Lyonnet, Dominique S., Soulier, Jean, Hachicha, Mongia, Dellagi, Koussay, Abdelhak, Sonia

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Germline BAP1 Mutations Predispose to Renal Cell Carcinomas von Popova, Tatiana, Hebert, Lucie, Jacquemin, Virginie, Gad, Sophie, Caux-Moncoutier, Virginie, Dubois-d’Enghien, Catherine, Richaudeau, Bénédicte, Renaudin, Xavier, Sellers, Jason, Nicolas, André, Sastre-Garau, Xavier, Desjardins, Laurence, Gyapay, Gabor, Raynal, Virginie, Sinilnikova, Olga M., Andrieu, Nadine, Manié, Elodie, de Pauw, Antoine, Gesta, Paul, Bonadona, Valérie, Maugard, Christine M., Penet, Clotilde, Avril, Marie-Françoise, Barillot, Emmanuel, Cabaret, Odile, Delattre, Olivier, Richard, Stéphane, Caron, Olivier, Benfodda, Meriem, Hu, Hui-Han, Soufir, Nadem, Bressac-de Paillerets, Brigitte, Stoppa-Lyonnet, Dominique, Stern, Marc-Henri

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Morbidity and mortality from ataxia-telangiectasia are associated withATMgenotype von Micol, Romain, Ben Slama, Lilia, Suarez, Felipe, Le Mignot, Loïc, Beauté, Julien, Mahlaoui, Nizar, Dubois d'Enghien, Catherine, Laugé, Anthony, Hall, Janet, Couturier, Jérôme, Vallée, Louis, Delobel, Bruno, Rivier, François, Nguyen, Karine, Billette de Villemeur, Thierry, Stephan, Jean-Louis, Bordigoni, Pierre, Bertrand, Yves, Aladjidi, Nathalie, Pedespan, Jean-Michel, Thomas, Caroline, Pellier, Isabelle, Koenig, Michel, Hermine, Olivier, Picard, Capucine, Moshous, Despina, Neven, Bénédicte, Lanternier, Fanny, Blanche, Stéphane, Tardieu, Marc, Debré, Marianne, Fischer, Alain, Stoppa-Lyonnet, Dominique

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Variable expression of CD3‐ζ chain in tumor‐infiltrating lymphocytes (TIL) derived from renal‐cell carcinoma: Relationship with til phenotype and function von Tartour, Eric, Latour, Sylvain, Mathiot, Claire, Thiounn, Nicolas, Mosseri, Véronique, Joyeux, Isabelle, D'Enghien, Catherine Dubois, Lee, Renshiang, Debre, Bernard, Fridman, Wolf Herman

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Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients von Ceccaldi, Raphael, Briot, Delphine, Larghero, Jérôme, Vasquez, Nadia, Dubois d'Enghien, Catherine, Chamousset, Delphine, Noguera, Maria-Elena, Waisfisz, Quinten, Hermine, Olivier, Pondarre, Corinne, Leblanc, Thierry, Gluckman, Eliane, Joenje, Hans, Stoppa-Lyonnet, Dominique, Socié, Gérard, Soulier, Jean

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Pros and cons of HaloPlex enrichment in cancer predisposition genetic diagnosis von Collet, Agnès, Tarabeux, Julien, Girard, Elodie, D’Enghien, Catherine Dubois, Golmard, Lisa, Deshaies, Vivien, Lermine, Alban, Laugé, Anthony, Moncoutier, Virginie, Lefol, Cédrick, Copigny, Florence, Dehainault, Catherine, Tenreiro, Henrique, Guy, Christophe, Abidallah, Khadija, Barbaroux, Catherine, Rouleau, Etienne, Servant, Nicolas, Pauw, Antoine De, Stoppa-Lyonnet, Dominique, Houdayer, Claude

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