Thierry Frébourg

1986–2024 年に発表

134: 論文数
28,401: 被引用数
90: h 指数
134: i10 指数

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Soft tissue and visceral sarcomas: ESMO–EURACAN–GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up☆
著者: Alessandro Gronchi, Aisha Miah, Angelo Paolo Dei Tos, N. Abecassis, Jyoti Bajpai, Sebastian Bauer, R. Biagini, Stefan Bielack, Jean‐Yves Blay, Stéphanie Bolle, Sylvie Bonvalot, I. Boukovinas, Judith V.M.G. Bovée, Kjetil Boye, Bernadette Brennan, Thomas Brodowicz, Angela Buonadonna, E. De Álava, Xavier García del Muro, Armelle Dufresne, Mikael Eriksson, Franca Fagioli, А. А. Феденко, Virginia Ferraresi, Andrea Ferrari, Anna Maria Frezza, Silvia Gasperoni, Hans Gelderblom, F. Gouin, Giovanni Grignani, Rick L. Haas, A.B. Hassan, Stefanie Hecker‐Nolting, Nadia Hindi, Peter Hohenberger, Heikki Joensuu, Robin L. Jones, Christiane Jungels, Paul C. Jutte, Leo Kager, Bernd Kasper, Akira Kawai, Kateřina Kopečková, Dagmar Adámková Krákorová, Axel Le Cesne, Franel Le Grange, Eric Legius, Andreas Leithner, Antonio López–Pousa, Javier Martín‐Broto, Ofer Merimsky, Christina Messiou, Olivier Mir, Michael Montemurro, Bruce Morland, Carlo Morosi, Emanuela Palmerini, Maria A. Pantaleo, Raimondo Piana, Sophie Piperno‐Neumann, Peter Reichardt, Piotr Rutkowski, Akmal Safwat, Claudia Sangalli, Marta Sbaraglia, Susanne Scheipl, Patrick Schöffski, Stefan Sleijfer, D. Strauß, Sandra J. Strauss, Kirsten Sundby Hall, Annalisa Trama, Mojca Unk, Michiel A. J. van de Sande, Winette T.A. van der Graaf, Winan J. van Houdt, Thierry Frébourg, Paolo G. Casali, Silvia Stacchiotti - Annals of Oncology 2021 被引用: 989
LMO2 -Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1
著者: S. Hacein-Bey-Abina, Christof von Kalle, Manfred Schmidt, Matthew P. McCormack, N. M. Wulffraat, Philippe Leboulch, Apiradee Lim, Cameron S. Osborne, Robert Pawliuk, Estelle Morillon, Ricardo U. Sorensen, A. Förster, Peter Fraser, J. I. Cohen, Geneviève de Saint Basile, Ian E. Alexander, Uwe Wintergerst, Thierry Frébourg, Alain Aurias, Dominique Stoppa‐Lyonnet, Serge Romana, I Radford-Weiss, Fabian Gross, F Valensi, Éric Delabesse, Elizabeth Macintyre, F Sigaux, Jean Soulier, Lily E. Leiva, Manuela Wissler, Claudia Prinz, Terence H. Rabbitts, Françoise Le Deist, Alain Fischer, Marina Cavazzana - Science 2003 被引用: 3,561
Integrative Analyses of Colorectal Cancer Show Immunoscore Is a Stronger Predictor of Patient Survival Than Microsatellite Instability
著者: Bernhard Mlecnik, Gabriela Bindea, Helen K. Angell, Pauline Maby, Mihaela Angelova, David Tougeron, S. Church, Lucie Lafontaine, M. Fischer, Tessa Fredriksen, Maristella Sasso, Amélie M. Bilocq, Amos Kirilovsky, Anna C. Obenauf, Mohamad Hamieh, Anne Berger, Patrick Bruneval, Jean‐Jacques Tuech, Jean‐Christophe Sabourin, Florence Le Pessot, Jacques Mauillon, Arash Rafii, Pierre Laurent‐Puig, Michael R. Speicher, Zlatko Trajanoski, Michel Pierre, Richard Sesboüé, Thierry Frébourg, Franck Pagès, Viia Valge-Archer, Jean‐Baptiste Latouche, Jérôme Galon - Immunity 2016 被引用: 1,068
Bone sarcomas: ESMO–EURACAN–GENTURIS–ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up
著者: Sandra J. Strauss, Anna Maria Frezza, N. Abecassis, Jyoti Bajpai, Sebastian Bauer, R. Biagini, Stefan Bielack, Jean‐Yves Blay, Stéphanie Bolle, Sylvie Bonvalot, I. Boukovinas, Judith V.M.G. Bovée, Kjetil Boye, Bernadette Brennan, Thomas Brodowicz, Angela Buonadonna, E. de Álava, Angelo Paolo Dei Tos, Xavier García del Muro, Armelle Dufresne, Mikael Eriksson, Franca Fagioli, А. А. Феденко, Virginia Ferraresi, Andrea Ferrari, Nathalie Gaspar, Silvia Gasperoni, Hans Gelderblom, F. Gouin, Giovanni Grignani, Alessandro Gronchi, Rick L. Haas, A.B. Hassan, Stefanie Hecker‐Nolting, Nadia Hindi, Peter Hohenberger, Heikki Joensuu, Robin L. Jones, Christiane Jungels, Paul C. Jutte, Leo Kager, Bernd Kasper, Akira Kawai, Kateřina Kopečková, Dagmar Adámková Krákorová, Axel Le Cesne, Franel Le Grange, Eric Legius, Andreas Leithner, A. López Pousa, Javier Martín‐Broto, Ofer Merimsky, Christina Messiou, Aisha Miah, Olivier Mir, Michael Montemurro, Bruce Morland, Carlo Morosi, Emanuela Palmerini, Maria A. Pantaleo, Raimondo Piana, Sophie Piperno‐Neumann, Peter Reichardt, Piotr Rutkowski, Akmal Safwat, Claudia Sangalli, Marta Sbaraglia, Susanne Scheipl, Patrick Schöffski, Stefan Sleijfer, D. Strauß, Kirsten Sundby Hall, Annalisa Trama, Mojca Unk, Michiel A. J. van de Sande, Winette T.A. van der Graaf, Winan J. van Houdt, Thierry Frébourg, Ruth Ladenstein, Paolo G. Casali, Silvia Stacchiotti - Annals of Oncology 2021 被引用: 455
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
著者: Eric Legius, Ludwine Messiaen, P. Wolkenstein, Patrice Pancza, Robert A. Avery, Yemima Berman, Jaishri O. Blakeley, Dusica Babovic‐Vuksanovic, Karin Soares Cunha, Rosalie E. Ferner, Michael J. Fisher, Jan M. Friedman, David H. Gutmann, Hildegard Kehrer‐Sawatzki, Bruce R. Korf, Victor‐Felix Mautner, Sirkku Peltonen, Katherine A. Rauen, Vincent M. Riccardi, Elizabeth K. Schorry, Anat Stemmer‐Rachamimov, David A. Stevenson, Gianluca Tadini, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Alicia Gomes, Justin T. Jordan, Victor Mautner, Vanessa L. Merker, Miriam J. Smith, David A. Stevenson, Monique Anten, Arthur S. Aylsworth, Diana Baralle, S. Barbarot, Fred G. Barker, Shay Ben‐Shachar, Amanda L. Bergner, D. Bessis, Ignacio Blanco, Cathérine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Marco Giovannini, Dorothy Halliday, Chris Hammond, C. Oliver Hanemann, Helen Hanson, Arvid Heiberg, K.H. Ly, Michel Kalamarides, Matthias A. Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Q. Le, Michael P. Link, Robert Listernick, Mia MacCollin, Conor Mallucci, Christopher L. Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger J. Packer, Laura Papi, Allyson Parry, Juha Peltonen, Dominique C. Pichard, Bruce Poppe, Nilton Alves de Rezende, Luiz Oswaldo Carneiro Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke‐Lange, Stavros Stivaros, Amy Taylor, Jaan Toelen, James H. Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh, Susan Huson, D. Gareth Evans, Scott R. Plotkin - Genetics in Medicine 2021 被引用: 771
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers
著者: Gaëlle Bougeard, Mariette Renaux‐Petel, Jean‐Michel Flaman, Camille Charbonnier, Pierre Fermey, Muriel Belotti, Marion Gauthier‐Villars, Dominique Stoppa‐Lyonnet, Émilie Consolino, Laurence Brugières, Olivier Caron, Patrick R. Benusiglio, Brigitte Bressac–de Paillerets, Valérie Bonadona, Catherine Bonaïti‐Pellié, Julie Tinat, Stéphanie Baert‐Desurmont, Thierry Frébourg - Journal of Clinical Oncology 2015 被引用: 753
Gastrointestinal stromal tumours: ESMO–EURACAN–GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up
著者: Paolo G. Casali, Jean‐Yves Blay, N. Abecassis, Jyoti Bajpai, Sebastian Bauer, R. Biagini, Stefan Bielack, Sylvie Bonvalot, I. Boukovinas, Judith V.M.G. Bovée, Kjetil Boye, Thomas Brodowicz, Angela Buonadonna, E. De Álava, Angelo Paolo Dei Tos, Xavier García del Muro, Armelle Dufresne, Mikael Eriksson, А. А. Феденко, Virginia Ferraresi, Andrea Ferrari, Anna Maria Frezza, Silvia Gasperoni, Hans Gelderblom, F. Gouin, Giovanni Grignani, Rick L. Haas, A.B. Hassan, Nadia Hindi, Peter Hohenberger, Heikki Joensuu, Robin L. Jones, Christiane Jungels, Paul C. Jutte, Bernd Kasper, Akira Kawai, Kateřina Kopečková, Dagmar Adámková Krákorová, Axel Le Cesne, Franel Le Grange, Eric Legius, Andreas Leithner, Antonio López–Pousa, Javier Martín‐Broto, Ofer Merimsky, Christina Messiou, Aisha Miah, Olivier Mir, Michael Montemurro, Carlo Morosi, Emanuela Palmerini, Maria A. Pantaleo, Raimondo Piana, Sophie Piperno‐Neumann, Peter Reichardt, Piotr Rutkowski, Akmal Safwat, Claudia Sangalli, Marta Sbaraglia, S. Scheipl, Patrick Schöffski, Stefan Sleijfer, D. Strauß, Sandra J. Strauss, Kirsten Sundby Hall, Annalisa Trama, Mojca Unk, Michiel A. J. van de Sande, Winette T.A. van der Graaf, Winan J. van Houdt, Thierry Frébourg, Alessandro Gronchi, Silvia Stacchiotti - Annals of Oncology 2021 被引用: 563
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
著者: Anne Rovelet‐Lecrux, Didier Hannequin, Grégory Raux, Nathalie Le Meur, Annie Laquerrière, Anne Vital, Cécile Dumanchin, Sébastien Feuillette, Alexis Brice, Martine Vercelletto, Frédéric Dubas, Thierry Frébourg, Dominique Campion - Nature Genetics 2005 被引用: 1,253
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
著者: The European Reference Network GENTURIS, Thierry Frébourg, Svetlana Bajalica‐Lagercrantz, Carla Oliveíra, Rita Mágenheim, D. Gareth Evans - European Journal of Human Genetics 2020 被引用: 329
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome
著者: Christian P. Kratz, Maria Isabel Achatz, Laurence Brugières, Thierry Frébourg, Judy E. Garber, Mary‐Louise C. Greer, Jordan R. Hansford, Katherine A. Janeway, Wendy Kohlmann, Rose B. McGee, Charles G. Mullighan, Kenan Onel, Kristian W. Pajtler, Stefan M. Pfister, Sharon A. Savage, Joshua D. Schiffman, Katherine A. Schneider, Louise C. Strong, D. Gareth Evans, Jonathan D. Wasserman, Anita Villani, David Malkin - Clinical Cancer Research 2017 被引用: 521
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
著者: Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic‐Vuksanovic, Rosalie E. Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, C. Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer‐Sawatzki, Bruce R. Korf, Victor‐Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent M. Riccardi, Elizabeth K. Schorry, Miriam J. Smith, Anat Stemmer‐Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Monique Anten, Arthur S. Aylsworth, Diana Baralle, S. Barbarot, Fred G. Barker, Shay Ben‐Shachar, Amanda L. Bergner, D. Bessis, Ignacio Blanco, Cathérine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, K.H. Ly, Justin T. Jordan, Matthias A. Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Q. Le, Michael P. Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher L. Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger J. Packer, Allyson Parry, Juha Peltonen, Dominique C. Pichard, Bruce Poppe, Nilton Alves de Rezende, Luiz Oswaldo Carneiro Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke‐Lange, Stavros Stivaros, Amy Taylor, Jaan Toelen, James H. Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh, Susan Huson, P. Wolkenstein, D. Gareth Evans - Genetics in Medicine 2022 被引用: 276
Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum
著者: Dominique Campion, Cécile Dumanchin, Didier Hannequin, Bruno Dubois, Serge Belliard, Michèle Puel, Catherine Thomas-Antérion, Agnès Michon, Cosette Martin, Françoise Charbonnier, Grégory Raux, Agnès Camuzat, Christiane Penet, Valérie Mesnage, María Martínez, Françoise Clerget‐Darpoux, Alexis Brice, Thierry Frébourg - The American Journal of Human Genetics 1999 被引用: 788
Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood
著者: Uri Tabori, Jordan R. Hansford, Maria Isabel Achatz, Christian P. Kratz, Sharon E. Plon, Thierry Frébourg, Laurence Brugières - Clinical Cancer Research 2017 被引用: 221
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease
著者: Cyril Pottier, Didier Hannequin, Sophie Coutant, Anne Rovelet‐Lecrux, David Wallon, Simon Rousseau, Solenn Legallic, Claire Paquet, Stéphanie Bombois, Jérémie Pariente, C. Thomas-Antérion, Agnès Michon, Bernard Croisile, Frédérique Etcharry‐Bouyx, Claudine Berr, Dartigues Jf, Philippe Amouyel, Hélène Dauchel, Claire Boutoleau‐Bretonnière, Christel Thauvin, Thierry Frébourg, J-C Lambert, Dominique Campion, PHRC GMAJ Collaborators - Molecular Psychiatry 2012 被引用: 318
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
著者: on behalf of InSiGHT, Bryony A. Thompson, Amanda B. Spurdle, John‐Paul Plazzer, Marc S. Greenblatt, Kiwamu Akagi, Fahd Al‐Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capellá, Johan T. den Dunnen, Desirée du Sart, Aurélie Fabre, Michael Farrell, Susan M. Farrington, Ian M. Frayling, Thierry Frébourg, David E. Goldgar, Christopher D. Heinen, Elke Holinski‐Feder, Maija R.J. Kohonen‐Corish, Kristina Lagerstedt‐Robinson, Suet Yi Leung, Alexandra Martins, Pål Møller, Monika Morak, Minna Nyström, Païvi Peltomäki, Marta Pineda, Ming Qi, Raj Ramesar, Lene Juel Rasmussen, Brigitte Royer‐Pokora, Rodney J. Scott, Rolf H. Sijmons, Sean V. Tavtigian, Carli M.J. Tops, Thomas Weber, Juul Wijnen, Michael O. Woods, Finlay Macrae, Maurizio Genuardi - Nature Genetics 2013 被引用: 476
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification
著者: Gaël Nicolas, Cyril Pottier, David Maltête, Sophie Coutant, Anne Rovelet‐Lecrux, Solenn Legallic, Stéphane Rousseau, Yvan Vaschalde, Lucie Guyant‐Maréchal, Jérôme Augustin, Olivier Martinaud, Luc Defebvre, Pierre Krystkowiak, Jérémie Pariente, Michel Clanet, Pierre Labauge, Xavier Ayrignac, Romain Lefaucheur, Isabelle Le Ber, Thierry Frébourg, Didier Hannequin, Dominique Campion - Neurology 2012 被引用: 277
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma
著者: Isabelle Janoueix‐Lerosey, Delphine Lequin, Laurence Brugières, Agnès Ribeiro, Loïc de Pontual, Valérie Combaret, Virginie Raynal, Alain Puisieux, Gudrun Schleiermacher, Gaëlle Pierron, Dominique Valteau‐Couanet, Thierry Frébourg, Jean Michon, Stanislas Lyonnet, Jeanne Amiel, Olivier Delattre - Nature 2008 被引用: 898
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification
著者: Gaël Nicolas, Cyril Pottier, Camille Charbonnier, Lucie Guyant‐Maréchal, Isabelle Le Ber, Jérémie Pariente, Pierre Labauge, Xavier Ayrignac, Luc Defebvre, David Maltête, Olivier Martinaud, Romain Lefaucheur, Olivier Guillin, David Wallon, Boris Chaumette, Philippe Rondepierre, Nathalie Derache, Guillaume Fromager, S. Schaeffer, Pierre Krystkowiak, Christophe Verny, Snejana Jurici, Mathilde Sauvée, Marc Vérin, Thibaud Lebouvier, Olivier Rouaud, Christel Thauvin‐Robinet, Stéphane Rousseau, Anne Rovelet‐Lecrux, Thierry Frébourg, Dominique Campion, Didier Hannequin, the French IBGC study group, Patrick Ahtoy, Mathieu Anheim, Jérôme Augustin, Xavier Ayrignac, Françoise Billé-Turc, Dominique Campion, Boris Chaumette, Michel Clanet, Luc Defebvre, Gilles Defer, Nathalie Derache, Mira Didic, Franck Durif, Emmanuel Flamand‐Roze, Guillaume Fromager, Maurice Giroud, Alice Goldenberg, Olivier Guillin, Lucie Guyant‐Maréchal, Didier Hannequin, Cécile Hubsch, Snejana Jurici, Pierre Krystkowiak, Pierre Labauge, Antoine Layet, Isabelle Le Ber, Thibaud Lebouvier, Romain Lefaucheur, David Maltête, Olivier Martinaud Donald Morcamp, Gaël Nicolas, Özlem Özkul, Jérémie Pariente, Cyril Pottier, Philippe Rondepierre, Olivier Rouaud, B Salle, Mathilde Sauvée, S. Schaeffer, Christel Thauvin-Robinet, Catherine Thomas-Antérion, Christine Tranchant, Aude Triquenot, Yvan Vaschalde, Marc Vérin, Christophe Verny, Marie Vidailhet, David Wallon - Brain 2013 被引用: 233
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
著者: Céline Bellenguez, Camille Charbonnier, Benjamin Grenier‐Boley, Olivier Quenez, Kilan Le Guennec, Gaël Nicolas, Ganesh Chauhan, David Wallon, Stéphane Rousseau, Anne Richard, Anne Boland, Guillaume Bourque, Hans Markus Münter, Robert Olaso, Vincent Meyer, Adeline Rollin‐Sillaire, Florence Pasquier, Luc Letenneur, Richard Redon, Jean‐François Dartigues, Christophe Tzourio, Thierry Frébourg, Mark Lathrop, Jean‐François Deleuze, Didier Hannequin, Emmanuelle Génin, Philippe Amouyel, Stéphanie Debette, Jean‐Charles Lambert, Dominique Campion, Didier Hannequin, Dominique Campion, David Wallon, Olivier Martinaud, Aline Zaréa, Gaël Nicolas, Adeline Rollin‐Sillaire, Stéphanie Bombois, Marie‐Anne Mackowiak, Vincent Deramecourt, Florence Pasquier, Agnès Michon, Isabelle Le Ber, Bruno Dubois, Olivier Godefroy, Frédérique Etcharry‐Bouyx, Valérie Chauviré, Ludivine Chamard, Eric Berger, Éloi Magnin, Jean‐François Dartigues, Sophie Auriacombe, François Tison, Vincent de la Sayette, Dominique Castan, Elsa Dionet, François Sellal, Olivier Rouaud, Christel Thauvin, Olivier Moreaud, Mathilde Sauvée, Maïté Formaglio, Hélène Mollion, Isabelle Roullet‐Solignac, Alain Vighetto, Bernard Croisile, Mira Didic, Olivier Félician, Lejla Koric, Mathieu Ceccaldi, Audrey Gabelle, Cécilia Marelli, Pierre Labauge, Thérèse Jonveaux, Martine Vercelletto, Claire Boutoleau‐Bretonnière, Giovanni Castelnovo, Claire Paquet, Julien Dumurgier, Jacques Hugon, Foucauld De Boisgueheneuc, Serge Belliard, Serge Bakchine, Marie Sarazin, Marie‐Odile Barrellon, Bernard Laurent, Frédéric Blanc, Jérémie Pariente, Snejana Jurici - Neurobiology of Aging 2017 被引用: 170
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
著者: Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, PHTS Guideline Development Group, Tanya M. Bisseling, Virginie Bubien, F. Caux, Nathalie Chabbert‐Buffet, Chrystelle Colas, Sophie Da Mota Gomes, Martin Gotthardt, Nicoline Hoogerbrugge, Marleen Kets, Katherine Lachlan, Thera P. Links, Michel Longy, Ritse M. Mann, Sjaak Pouwels, Leo J. Schultze Kool, Robert K. Semple, Ian Stock, Marc Tischkowitz, Janet R. Vos, The European Reference Network GENTURIS, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Rianne Oostenbrink, Rolf H. Sijmons, D. Gareth Evans, Emma R. Woodward, Marc Tischkowitz, Eamonn R. Maher, Rosalie E. Ferner, Stefan Aretz, Isabel Spier, Verena Steinke‐Lange, Elke Holinski‐Feder, Evelin Schröck, Thierry Frébourg, Claude Houdayer, Chrystelle Colas, P. Wolkenstein, Vincent Bours, Eric Legius, Bruce Poppe, Kathleen Claes, Robin De Putter, Ignacio Blanco Guillermo, Gabriel Capellá, Joan Brunet Vidal, Conxi Lázaro, Judith Balmañà, Hector Salvador Hernandez, Carla Oliveíra, Manuel R. Teixeira, Svetlana Bajalica‐Lagercrantz, Emma Tham, Jan Lubiński, Karolina Ertmańska, Béla Melegh, Mateja Krajc, Ana Blatnik, Sirkku Peltonen, Marja Hietala - European Journal of Human Genetics 2020 被引用: 135
Diagnostic value of CA19.9, circulating tumour DNA and circulating tumour cells in patients with solid pancreatic tumours
著者: David Sefrioui, France Blanchard, Emmanuel Touré, Paul Basile, Ludivine Beaussire, Claire Dolfus, Anne Perdrix, Marianne Paresy, Michel Antonietti, Isabelle Iwanicki–Caron, Raied Alhameedi, Stéphane Lecleire, Alice Gangloff, Lilian Schwarz, Florian Clatot, Jean‐Jacques Tuech, Thierry Frébourg, Fabrice Jardin, Jean‐Christophe Sabourin, Nasrin Sarafan‐Vasseur, Pierre Michel, Frédéric FIORE - British Journal of Cancer 2017 被引用: 121
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome
著者: Mariette Renaux‐Petel, Françoise Charbonnier, Jean‐Christophe Théry, Pierre Fermey, Gwendoline Lienard, Jacqueline Bou, Sophie Coutant, Myriam Vézain, Edwige Kasper, Steeve Fourneaux, Sandrine Manase, Maud Blanluet, Bruno Leheup, L Mansuy, J. Champigneulle, Céline Chappé, Michel Longy, Nicolas Sévenet, Brigitte Bressac–de Paillerets, Léa Guerrini‐Rousseau, Laurence Brugières, Olivier Caron, Jean‐Christophe Sabourin, Isabelle Tournier, Stéphanie Baert‐Desurmont, Thierry Frébourg, Gaëlle Bougeard - Journal of Medical Genetics 2017 被引用: 118
Correlation between Density of CD8+ T-cell Infiltrate in Microsatellite Unstable Colorectal Cancers and Frameshift Mutations: A Rationale for Personalized Immunotherapy
著者: Pauline Maby, David Tougeron, Mohamad Hamieh, Bernhard Mlecnik, Hafid Kora, Gabriela Bindea, Helen K. Angell, Tessa Fredriksen, Nicolas Elie, Émilie Fauquembergue, Aurélie Drouet, Jérôme Leprince, Jacques Bénichou, Jacques Mauillon, Florence Le Pessot, Richard Sesboüé, Jean‐Jacques Tuech, Jean‐Christophe Sabourin, Michel Pierre, Thierry Frébourg, Jérôme Galon, Jean‐Baptiste Latouche - Cancer Research 2015 被引用: 243
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease
著者: Gaël Nicolas, Camille Charbonnier, David Wallon, Olivier Quenez, Céline Bellenguez, Benjamin Grenier‐Boley, Simon Rousseau, A-C Richard, Anne Rovelet‐Lecrux, Kilan Le Guennec, Delphine Bacq, J-G Garnier, Robert Olaso, Anne Boland, Vincent Meyer, J.-F. Deleuze, Philippe Amouyel, Hans Markus Münter, Guillaume Bourque, Mark Lathrop, Thierry Frébourg, Richard Redon, Luc Letenneur, Dartigues Jf, Emmanuelle Génin, J-C Lambert, Didier Hannequin, Dominique Campion, The CNR-MAJ collaborators, Didier Hannequin, Dominique Campion, David Wallon, Olivier Martinaud, Gaël Nicolas, Olivier Godefroy, Frédérique Etcharry-Bouyx, Valérie Chauviré, Ludivine Chamard, Eric Berger, Eloi Magnin, Jean-Francois Dartigues, Sophie Auriacombe, Vincent de la Sayette, Fausto Viader, Dominique Castan, Elsa Dionet, Francois Sellal, Olivier Rouaud, Christel Thauvin, Olivier Moreaud, Mathilde Sauvée, Adeline Rollin-Sillaire, Stéphanie Bombois, Marie-Anne Mackowiak, Vincent Deramecourt, Florence Pasquier, Maïté Formaglio, Hélène Mollion, Isabelle Roullet-Solignac, Alain Vighetto, Bernard Croisile, Mira Didic, Olivier Félician, Lejla Koric, Mathieu Ceccaldi, Audrey Gabelle, Cecilia Marelli, Jacques Touchon, Pierre Labauge, Thérèse Jonveaux, Martine Vercelletto, Claire Boutoleau-Bretonnière, Giovanni Castelnovo, David Renaud, Philippe Robert, Claire Paquet, Julien Dumurgier, Jacques Hugon, Agnès Michon, Isabelle Le Ber, Bruno Dubois, Charles Duyckaerts, Foucauld De Boisgueheneuc, Serge Belliard, Serge Bakchine, Marie-Odile Barrellon, Bernard Laurent, Frédéric Blanc, Christine Tranchant, Jérémie Pariente, Michèle Puel, Caroline Hommet, Karl Mondon - Molecular Psychiatry 2015 被引用: 134