Evaluation of in silico splice tools for decision-making in molecular diagnosis von Houdayer, Claude, Dehainault, Catherine, Mattler, Christophe, Michaux, Dorothée, Caux-Moncoutier, Virginie, Pagès-Berhouet, Sabine, d'Enghien, Catherine Dubois, Laugé, Anthony, Castera, Laurent, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique

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Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers von Golmard, Lisa, Castéra, Laurent, Krieger, Sophie, Moncoutier, Virginie, Abidallah, Khadija, Tenreiro, Henrique, Laugé, Anthony, Tarabeux, Julien, Millot, Gael A, Nicolas, André, Laé, Marick, Abadie, Caroline, Berthet, Pascaline, Polycarpe, Florence, Frébourg, Thierry, Elan, Camille, de Pauw, Antoine, Gauthier-Villars, Marion, Buecher, Bruno, Stern, Marc-Henri, Stoppa-Lyonnet, Dominique, Vaur, Dominique, Houdayer, Claude

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Functional consequences of ATM sequence variants for chromosomal radiosensitivity von Gutiérrez-Enríquez, Sara, Fernet, Marie, Dörk, Thilo, Bremer, Michael, Lauge, Anthony, Stoppa-Lyonnet, Dominique, Moullan, Norman, Angèle, Sandra, Hall, Janet

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Cancer risk in heterozygotes for ataxia‐telangiectasia von Geoffroy‐Perez, Béatrice, Janin, Nicolas, Ossian, Katia, Laugé, Anthony, Croquette, Marie‐Françoise, Griscelli, Claude, Debré, Marianne, Bressac‐de‐Paillerets, Brigitte, Aurias, Alain, Stoppa‐Lyonnet, Dominique, Andrieu, Nadine

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Mosaicism and prenatal diagnosis options: insights from retinoblastoma von Dehainault, Catherine, Golmard, Lisa, Millot, Gaël A, Charpin, Agathe, Laugé, Anthony, Tarabeux, Julien, Aerts, Isabelle, Cassoux, Nathalie, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Houdayer, Claude

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Isolated generalized dystonia in biallelic missense mutations of the ATM gene von Meissner, Wassilios G., Fernet, Marie, Couturier, Jérôme, Hall, Janet, Laugé, Anthony, Henry, Patrick, Stoppa-Lyonnet, Dominique, Tison, François

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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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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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EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 pat... von Caux-Moncoutier, Virginie, Castéra, Laurent, Tirapo, Carole, Michaux, Dorothée, Rémon, Marie-Alice, Laugé, Anthony, Rouleau, Etienne, De Pauw, Antoine, Buecher, Bruno, Gauthier-Villars, Marion, Viovy, Jean-Louis, Stoppa-Lyonnet, Dominique, Houdayer, Claude

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Variation in breast cancer risk of heterozygotes for ataxia‐telangiectasia according to environmental factors von Geoffroy‐Perez, Béatrice, Janin, Nicolas, Ossian, Katia, Laugé, Anthony, Stoppa‐Lyonnet, Dominique, Andrieu, Nadine

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ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy von Paglia, Laura La, Laugé, Anthony, Weber, Jérémie, Champ, Jérôme, Cavaciuti, Eve, Russo, Antonio, Viovy, Jean-Louis, Stoppa-Lyonnet, Dominique

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Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families von Renault, Anne-Laure, Mebirouk, Noura, Cavaciuti, Eve, Le Gal, Dorothée, Lecarpentier, Julie, d'Enghien, Catherine Dubois, Laugé, Anthony, Dondon, Marie-Gabrielle, Labbé, Martine, Lesca, Gaetan, Leroux, Dominique, Gladieff, Laurence, Adenis, Claude, Faivre, Laurence, Gilbert-Dussardier, Brigitte, Lortholary, Alain, Fricker, Jean-Pierre, Dahan, Karin, Bay, Jacques-Olivier, Longy, Michel, Buecher, Bruno, Janin, Nicolas, Zattara, Hélène, Berthet, Pascaline, Combès, Audrey, Coupier, Isabelle, Hall, Janet, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne

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Fertility defects revealing germline biallelic nonsense NBN mutations von Warcoin, Mathilde, Lespinasse, James, Despouy, Gilles, Dubois d'Enghien, Catherine, Laugé, Anthony, Portnoï, Marie-France, Christin-Maitre, Sophie, Stoppa-Lyonnet, Dominique, Henri Stern, Marc

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Inactivation of the ATM gene in T-cell prolymphocytic leukemias von STOPPA-LYONNET, D, SOULIER, J, LAUGE, A, DASTOT, H, GARAND, R, SIGAUX, F, STERN, M.-H

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Pregnancy after preimplantation genetic diagnosis for Ataxia Telangiectasia von Hellani, Ali, Laugé, Anthony, Ozand, Pinard, Jaroudi, Kamal, Coskun, Serdar

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Phenotypic cellular characterization of an Ataxia telangiectasia patient carrying a causal homozygous missense mutation von Angèle, Sandra, Laugé, Anthony, Fernet, Marie, Moullan, Norman, Beauvais, Pierre, Couturier, Jérôme, Stoppa-Lyonnet, Dominique, Hall, Janet

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Ataxia-Telangiectasia genes and breast cancer risk in a French family study von Andrieu, Nadine, Cavaciuti, Eve, Laugé, Anthony, Ossian, Katia, Janin, Nicolas, Hall, Janet, Stoppa-Lyonnet, Dominique

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No germline ATM mutation in a series of 16 T-cell prolymphocytic leukemias von Stoppa-Lyonnet, Dominique, Laugé, Anthony, Sigaux, François, Stern, Marc-Henri

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Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers von Renault, Anne-Laure, Mebirouk, Noura, Fuhrmann, Laetitia, Bataillon, Guillaume, Cavaciuti, Eve, Le Gal, Dorothée, Girard, Elodie, Popova, Tatiana, La Rosa, Philippe, Beauvallet, Juana, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, d'Enghien, Catherine Dubois, Laugé, Anthony, Chemlali, Walid, Raynal, Virginie, Labbé, Martine, Bièche, Ivan, Baulande, Sylvain, Bay, Jacques-Olivier, Berthet, Pascaline, Caron, Olivier, Buecher, Bruno, Faivre, Laurence, Fresnay, Marc, Gauthier-Villars, Marion, Gesta, Paul, Janin, Nicolas, Lejeune, Sophie, Maugard, Christine, Moutton, Sébastien, Venat-Bouvet, Laurence, Zattara, Hélène, Fricker, Jean-Pierre, Gladieff, Laurence, Coupier, Isabelle, Chenevix-Trench, Georgia, Hall, Janet, Vincent-Salomon, Anne, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne

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A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers von Jiao, Yue, Lesueur, Fabienne, Azencott, Chloe-Agathe, Laurent, Maite, Mebirouk, Noura, Laborde, Lilian, Beauvallet, Juana, Dondon, Marie-Gabrielle, Eon-Marchais, Severine, Lauge, Anthony, Nogues, Catherine, Andrieu, Nadine, Stoppa-Lyonnet, Dominique, Caputo, Sandrine M.

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