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Input of exome sequencing in early‐onset cerebral amyloid angiopathy by Lou Grangeon, Camille Charbonnier, Stéphane Rousseau, Anne Claire Richard, Olivier Quenez, Aline Zarea, Anne Boland, Robert Olaso, Jean‐François Deleuze, CAA study group, Elisabeth Tournier‐Lasserve, Gael Nicolas, David Wallon
Published 2024-10-01Get full text
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Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling. by François Lecoquierre, Nathalie Drouot, Sophie Coutant, Olivier Quenez, Steeve Fourneaux, Fanny Jumeau, Nathalie Rives, Françoise Charbonnier, Céline Derambure, Anne Boland, Robert Olaso, Vincent Meyer, Jean-François Deleuze, Alice Goldenberg, Anne-Marie Guerrot, Camille Charbonnier, Gaël Nicolas
Published 2025-03-01Get full text
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Genome‐Wide Search for Nonadditive Allele Effects Identifies PSKH2 as Involved in the Variability of Factor V Activity by Blandine Gendre, Angel Martinez‐Perez, Marcus E. Kleber, Astrid van Hylckama Vlieg, Anne Boland, Robert Olaso, Marine Germain, Gaëlle Munsch, Angela Patricia Moissl, Pierre Suchon, Juan Carlos Souto, José Manuel Soria, Jean‐François Deleuze, Winfried März, Frits R. Rosendaal, Maria Sabater‐Lleal, Pierre‐Emmanuel Morange, David‐Alexandre Trégouët
Published 2024-11-01Get full text
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Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress by Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Published 2020-06-01Get full text
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Comprehensive molecular portrait reveals genetic diversity and distinct molecular subtypes of small intestinal neuroendocrine tumors by Céline Patte, Roxane M. Pommier, Anthony Ferrari, Felicia Fei-Lei Chung, Maria Ouzounova, Pauline Moullé, Mathieu Richaud, Rita Khoueiry, Maëva Hervieu, Silvia Breusa, Marion Allio, Nicolas Rama, Laura Gérard, Valérie Hervieu, Gilles Poncet, Tanguy Fenouil, Vincent Cahais, Anne-Sophie Sertier, Anne Boland, Delphine Bacq-Daian, Benjamin Ducarouge, Julien C. Marie, Jean-François Deleuze, Alain Viari, Jean-Yves Scoazec, Colette Roche, Patrick Mehlen, Thomas Walter, Benjamin Gibert
Published 2025-03-01Get full text
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Sources of pre-analytical variations in yield of DNA extracted from blood samples: analysis of 50,000 DNA samples in EPIC. by Elodie Caboux, Christophe Lallemand, Gilles Ferro, Bertrand Hémon, Maimuna Mendy, Carine Biessy, Matt Sims, Nick Wareham, Abigail Britten, Anne Boland, Amy Hutchinson, Afshan Siddiq, Paolo Vineis, Elio Riboli, Isabelle Romieu, Sabina Rinaldi, Marc J Gunter, Petra H M Peeters, Yvonne T van der Schouw, Ruth Travis, H Bas Bueno-de-Mesquita, Federico Canzian, Maria-José Sánchez, Guri Skeie, Karina Standahl Olsen, Eiliv Lund, Roberto Bilbao, Núria Sala, Aurelio Barricarte, Domenico Palli, Carmen Navarro, Salvatore Panico, Maria Luisa Redondo, Silvia Polidoro, Laure Dossus, Marie Christine Boutron-Ruault, Françoise Clavel-Chapelon, Antonia Trichopoulou, Dimitrios Trichopoulos, Pagona Lagiou, Heiner Boeing, Eva Fisher, Rosario Tumino, Claudia Agnoli, Pierre Hainaut
Published 2012-01-01Get full text
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Elevated serum levels of interleukin-18 discriminate Still’s disease from other autoinflammatory conditions: results from the European ImmunAID cohort by Bruno Fautrel, David Saadoun, Tadej Avcin, Thierry Martin, Eric Hachulla, Cem Gabay, Seza Ozen, Stéphanie Humblet-Baron, Carine Wouters, Adrian Liston, Umut Kalyoncu, Jordi Antón, Sinisa Savic, Yvan Jamilloux, Christoph Kessel, Dirk Foell, Jeroen Raes, Michael Hofer, Luca Cantarini, Isabelle Kone-Paut, Søren Brunak, Marie-Elise Truchetet, Steven Vanderschueren, Alexandre Belot, Antonella Insalaco, Haner Direskeneli, Irina Giurgea, Sophie Georgin-Lavialle, Serge Amselem, Léa Savey, Pierre Quartier, Anne Boland, Jean-François Deleuze, Sabrina Carpentier, Katerina Laskari, Thomas Henry, Jean-David Bouaziz, Clementien Vermont, Emanuele Bizzi, Helen Lachmann, Nicolas Poursac, Gilles Hayem, Stéphane Mitrovic, Patrick Matthys, Isabella Friis Jørgensen, Emiliana Rodriguez, Philippe Hupé, Paolo Sfriso, Evangelos Andreakos, Antoine Néel, Alina Boteanu, Sara Garcia, Perrine Dusser, Yvonne M Mueller, Peter D Katsikis, Matheus Vieira, Charlotte Girard-Guyonvarc’h, Charlotte Girard, Assunta Caruso, Violeta Bittermann, Sonia Caccia, Arturo Hernandez Cervantes, Emna Chabaane, Fanny Coffin, Dominique de Seny, Henri de Soyres, Marc Dubourdeau, Stefan J Erkeland, Dimitrios I. Fotiadis, Apolline Gallois, Mieke Gouwy, Sonia Karabina, Andres Jimenez Kaufmann, Keshia Koutekissa, Karoline Krause, Thibault Mahevas, Nasima Matsa, Michael F. McDermott, Aura Moreno Vega, Marco Francesco Natale, Maria Papadaki, Costas Papaloukas, Christophe Poulet, Sebastian Proost, Paul Proost, Julien Roméjon, Sarhan Yaiche, Savvas Savvides, Vassili Soumelis, Sigrid Swagemakers, Paul Van Daele, Harmen J. G. vandeWerken, Peter van derSpek, Rogier van Wijck
Published 2025-05-01Get full text
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Machine learning in Alzheimer’s disease genetics by Matthew Bracher-Smith, Federico Melograna, Brittany Ulm, Céline Bellenguez, Benjamin Grenier-Boley, Diane Duroux, Alejo J. Nevado, Peter Holmans, Betty M. Tijms, Marc Hulsman, Itziar de Rojas, Rafael Campos-Martin, Sven van der Lee, Atahualpa Castillo, Fahri Küçükali, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Jürgen Deckert, Steffi Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Emrah Düzel, Timo Grimmer, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Thomas Tegos, Nikolaos Scarmeas, Oriol Dols-Icardo, Fermin Moreno, Jordi Pérez-Tur, María J. Bullido, Pau Pastor, Raquel Sánchez-Valle, Victoria Álvarez, Mercè Boada, Pablo García-González, Raquel Puerta, Pablo Mir, Luis M. Real, Gerard Piñol-Ripoll, Jose María García-Alberca, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Sami Heikkinen, Alexandre de Mendonça, Shima Mehrabian, Latchezar Traykov, Jakub Hort, Martin Vyhnalek, Nicolai Sandau, Jesper Qvist Thomassen, Yolande A. L. Pijnenburg, Henne Holstege, John van Swieten, Inez Ramakers, Frans Verhey, Philip Scheltens, Caroline Graff, Goran Papenberg, Vilmantas Giedraitis, Julie Williams, Philippe Amouyel, Anne Boland, Jean-François Deleuze, Gael Nicolas, Carole Dufouil, Florence Pasquier, Olivier Hanon, Stéphanie Debette, Edna Grünblatt, Julius Popp, Roberta Ghidoni, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Lucio Tremolizzo, Barbara Borroni, Michael Wagner, Benedetta Nacmias, Marco Spallazzi, Davide Seripa, Innocenzo Rainero, Antonio Daniele, Fabrizio Piras, Carlo Masullo, Giacomina Rossi, Frank Jessen, Patrick Kehoe, Tsolaki Magda, Pascual Sánchez-Juan, Kristel Sleegers, Martin Ingelsson, Mikko Hiltunen, Rebecca Sims, Wiesje van der Flier, Ole A. Andreassen, Agustín Ruiz, Alfredo Ramirez, EADB, Ruth Frikke-Schmidt, Najaf Amin, Gennady Roshchupkin, Jean-Charles Lambert, Kristel Van Steen, Cornelia van Duijn, Valentina Escott-Price
Published 2025-07-01Get full text
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The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study. by Mattias Johansson, Robert Carreras-Torres, Ghislaine Scelo, Mark P Purdue, Daniela Mariosa, David C Muller, Nicolas J Timpson, Philip C Haycock, Kevin M Brown, Zhaoming Wang, Yuanqing Ye, Jonathan N Hofmann, Matthieu Foll, Valerie Gaborieau, Mitchell J Machiela, Leandro M Colli, Peng Li, Jean-Guillaume Garnier, Helene Blanche, Anne Boland, Laurie Burdette, Egor Prokhortchouk, Konstantin G Skryabin, Meredith Yeager, Sanja Radojevic-Skodric, Simona Ognjanovic, Lenka Foretova, Ivana Holcatova, Vladimir Janout, Dana Mates, Anush Mukeriya, Stefan Rascu, David Zaridze, Vladimir Bencko, Cezary Cybulski, Eleonora Fabianova, Viorel Jinga, Jolanta Lissowska, Jan Lubinski, Marie Navratilova, Peter Rudnai, Simone Benhamou, Geraldine Cancel-Tassin, Olivier Cussenot, Elisabete Weiderpass, Börje Ljungberg, Raviprakash Tumkur Sitaram, Christel Häggström, Fiona Bruinsma, Susan J Jordan, Gianluca Severi, Ingrid Winship, Kristian Hveem, Lars J Vatten, Tony Fletcher, Susanna C Larsson, Alicja Wolk, Rosamonde E Banks, Peter J Selby, Douglas F Easton, Gabriella Andreotti, Laura E Beane Freeman, Stella Koutros, Satu Männistö, Stephanie Weinstein, Peter E Clark, Todd L Edwards, Loren Lipworth, Susan M Gapstur, Victoria L Stevens, Hallie Carol, Matthew L Freedman, Mark M Pomerantz, Eunyoung Cho, Kathryn M Wilson, J Michael Gaziano, Howard D Sesso, Neal D Freedman, Alexander S Parker, Jeanette E Eckel-Passow, Wen-Yi Huang, Richard J Kahnoski, Brian R Lane, Sabrina L Noyes, David Petillo, Bin Tean Teh, Ulrike Peters, Emily White, Garnet L Anderson, Lisa Johnson, Juhua Luo, Julie Buring, I-Min Lee, Wong-Ho Chow, Lee E Moore, Timothy Eisen, Marc Henrion, James Larkin, Poulami Barman, Bradley C Leibovich, Toni K Choueiri, G Mark Lathrop, Jean-Francois Deleuze, Marc Gunter, James D McKay, Xifeng Wu, Richard S Houlston, Stephen J Chanock, Caroline Relton, J Brent Richards, Richard M Martin, George Davey Smith, Paul Brennan
Published 2019-01-01Get full text
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A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. by James D McKay, Therese Truong, Valerie Gaborieau, Amelie Chabrier, Shu-Chun Chuang, Graham Byrnes, David Zaridze, Oxana Shangina, Neonila Szeszenia-Dabrowska, Jolanta Lissowska, Peter Rudnai, Eleonora Fabianova, Alexandru Bucur, Vladimir Bencko, Ivana Holcatova, Vladimir Janout, Lenka Foretova, Pagona Lagiou, Dimitrios Trichopoulos, Simone Benhamou, Christine Bouchardy, Wolfgang Ahrens, Franco Merletti, Lorenzo Richiardi, Renato Talamini, Luigi Barzan, Kristina Kjaerheim, Gary J Macfarlane, Tatiana V Macfarlane, Lorenzo Simonato, Cristina Canova, Antonio Agudo, Xavier Castellsagué, Ray Lowry, David I Conway, Patricia A McKinney, Claire M Healy, Mary E Toner, Ariana Znaor, Maria Paula Curado, Sergio Koifman, Ana Menezes, Victor Wünsch-Filho, José Eluf Neto, Leticia Fernández Garrote, Stefania Boccia, Gabriella Cadoni, Dario Arzani, Andrew F Olshan, Mark C Weissler, William K Funkhouser, Jingchun Luo, Jan Lubiński, Joanna Trubicka, Marcin Lener, Dorota Oszutowska, Stephen M Schwartz, Chu Chen, Sherianne Fish, David R Doody, Joshua E Muscat, Philip Lazarus, Carla J Gallagher, Shen-Chih Chang, Zuo-Feng Zhang, Qingyi Wei, Erich M Sturgis, Li-E Wang, Silvia Franceschi, Rolando Herrero, Karl T Kelsey, Michael D McClean, Carmen J Marsit, Heather H Nelson, Marjorie Romkes, Shama Buch, Tomoko Nukui, Shilong Zhong, Martin Lacko, Johannes J Manni, Wilbert H M Peters, Rayjean J Hung, John McLaughlin, Lars Vatten, Inger Njølstad, Gary E Goodman, John K Field, Triantafillos Liloglou, Paolo Vineis, Francoise Clavel-Chapelon, Domenico Palli, Rosario Tumino, Vittorio Krogh, Salvatore Panico, Carlos A González, J Ramón Quirós, Carmen Martínez, Carmen Navarro, Eva Ardanaz, Nerea Larrañaga, Kay-Tee Khaw, Timothy Key, H Bas Bueno-de-Mesquita, Petra H M Peeters, Antonia Trichopoulou, Jakob Linseisen, Heiner Boeing, Göran Hallmans, Kim Overvad, Anne Tjønneland, Merethe Kumle, Elio Riboli, Kristjan Välk, Tõnu Vooder, Andres Metspalu, Diana Zelenika, Anne Boland, Marc Delepine, Mario Foglio, Doris Lechner, Hélène Blanché, Ivo G Gut, Pilar Galan, Simon Heath, Mia Hashibe, Richard B Hayes, Paolo Boffetta, Mark Lathrop, Paul Brennan
Published 2011-03-01Get full text
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