Diagnosis of exon 12‐positive polycythemia vera rescued by NGS by Antoine Geay, Bernard Aral, Valentin Bourgeois, Pauline Martin, Fabrice Airaud, Céline Garrec, Stéphane Bézieau, Betty Gardie, François Girodon

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First French study relative to preconception genetic testing: 1500 general population participants’ opinion by Valérie Bonneau, Mathilde Nizon, Xenia Latypova, Aurélie Gaultier, Eugénie Hoarau, Stéphane Bézieau, Guy Minguet, Mauro Turrini, Maud Jourdain, Bertrand Isidor

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MEM: An Algorithm for the Reliable Detection of Microsatellite Instability (MSI) on a Small NGS Panel in Colorectal Cancer by Guillaume Herbreteau, Fabrice Airaud, Elise Pierre-Noël, Audrey Vallée, Stéphane Bézieau, Sandrine Théoleyre, Hélène Blons, Simon Garinet, Marc Guillaume Denis

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Differential roles of Hath1, MUC2 and P27Kip1 in relation with gamma-secretase inhibition in human colonic carcinomas: a translational study. by Frédérique Souazé, Chantal Bou-Hanna, Christine Kandel, François Leclair, Julie Devallière, Béatrice Charreau, Stéphane Bézieau, Jean-François Mosnier, Christian L Laboisse

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Germline JAK2 E846D Substitution as the Cause of Erythrocytosis? by Nada Maaziz, Céline Garrec, Fabrice Airaud, Victor Bobée, Nathalie Contentin, Emilie Cayssials, Antoine Rimbert, Bernard Aral, Stéphane Bézieau, Betty Gardie, François Girodon

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Two novel variants of uncertain significance in GP9 associated with Bernard–Soulier syndrome: Are they true mutations? by P. Boisseau, C. Debord, M. Eveillard, A. Quéméner, M. Sigaud, M. Giraud, P. Talarmain, C. Thomas, G. Landeau, S. Bezieau, B. Pan Petesch, M. C. Béné, M. Fouassier

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Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study by Chupin Louis-Dominique, Lafraise Bernard, Ollivry Jean, Faroux Roger, Le Houérou Claire, Le Neel Tanguy, Colman Hélène, Scoul Catherine, Robiou-du-Pont Sébastien, Buecher Bruno, Küry Sébastien, Sébille Véronique, Bézieau Stéphane

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Identification of shared genetic variants between schizophrenia and lung cancer. by Zuber, V, Jönsson, E, Frei, O, Witoelar, A, Thompson, W, Schork, A, Bettella, F, Wang, Y, Djurovic, S, Smeland, O, Dieset, I, Fanous, A, Desikan, R, Küry, S, Bézieau, S, Dale, A, Mills, I, Andreassen, O

The density of Tbet+ tumor-infiltrating T lymphocytes reflects an effective and druggable preexisting adaptive antitumor immune response in colorectal cancer, irrespective of the m... by Eva Ott, Linda Bilonda, Delphine Dansette, Cécile Deleine, Emilie Duchalais, Juliette Podevin, Christelle Volteau, Jaafar Bennouna, Yann Touchefeu, Pierre Fourquier, Wassila El Alami Thomas, Jérome Chetritt, Stéphane Bezieau, Marc Denis, Claire Toquet, Jean-François Mosnier, Anne Jarry, Céline Bossard

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High-Density of FcγRIIIA+ (CD16+) Tumor-Associated Neutrophils in Metastases Improves the Therapeutic Response of Cetuximab in Metastatic Colorectal Cancer Patients, Independently... by Marie Denis Musquer, Nicolas Jouand, Nicolas Jouand, Morgane Pere, Juliette Eugène Lamer, Stéphane Bézieau, Tamara Matysiak, Roger Faroux, François-Xavier Caroli Bosc, Marie-Christine Rousselet, François Leclair, Jean-François Mosnier, Claire Toquet, Nadine Gervois, Nadine Gervois, Céline Bossard, Céline Bossard, Céline Bossard

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A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. by Theodoratou, E, Campbell, H, Tenesa, A, Houlston, R, Webb, E, Lubbe, S, Broderick, P, Gallinger, S, Croitoru, E, Jenkins, M, Win, A, Cleary, S, Koessler, T, Pharoah, P, Küry, S, Bézieau, S, Buecher, B, Ellis, N, Peterlongo, P, Offit, K, Aaltonen, L, Enholm, S, Lindblom, A, Zhou, X, Tomlinson, I

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants by Theodoratou, E, Campbell, H, Tenesa, A, Houlston, R, Webb, E, Lubbe, S, Broderick, P, Gallinger, S, Croitoru, E, Jenkins, M, Win, A, Cleary, S, Koessler, T, Pharoah, P, Küry, S, Bézieau, S, Buecher, B, Ellis, N, Peterlongo, P, Offit, K, Aaltonen, L, Enholm, S, Lindblom, A, Zhou, X, Tomlinson, I

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations by Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic

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Leptin gene variants and colorectal cancer risk: Sex-specific associations. by Kelsey A Chun, Jonathan M Kocarnik, Sheetal S Hardikar, Jamaica R Robinson, Sonja I Berndt, Andrew T Chan, Jane C Figueiredo, Noralane M Lindor, Mingyang Song, Robert E Schoen, Richard B Hayes, John D Potter, Rami Nassir, Stéphane Bézieau, Loic Le Marchand, Martha L Slattery, Emily White, Ulrike Peters, Polly A Newcomb

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P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder by Sam Bradbrook, Gail Graham, Melissa Carter, Maria Kibaek, Martin Larsen, Christina Fagerberg, Katherine Dawson, Cheryl Meuter, Alexander Pepler, Thomas Besnard, Bertrand Isidor, Stéphane Bezieau, Benjamin Cogné, Marie Vincent, Katherine Bjorgo, Thomas Courtin, Lisa Emrick, Jill Rosenfeld, Undiagnosed Diseases Network, Julian Martinez-Agosto, Mathilde Heulin, Gilles Morin, Pauline Monin, Louis Januel, Marie-Noëlle Bonnet-Dupeyron, Mathilde Pujalte, Kim Worley, Monika Weisz-Hubshman, Patricia Dickson, Michelle Thompson, Julien Marcadier

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Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data. by Stephanie A Bien, Paul L Auer, Tabitha A Harrison, Conghui Qu, Charles M Connolly, Peyton G Greenside, Sai Chen, Sonja I Berndt, Stéphane Bézieau, Hyun M Kang, Jeroen Huyghe, Hermann Brenner, Graham Casey, Andrew T Chan, John L Hopper, Barbara L Banbury, Jenny Chang-Claude, Stephen J Chanock, Robert W Haile, Michael Hoffmeister, Christian Fuchsberger, Mark A Jenkins, Suzanne M Leal, Mathieu Lemire, Polly A Newcomb, Steven Gallinger, John D Potter, Robert E Schoen, Martha L Slattery, Joshua D Smith, Loic Le Marchand, Emily White, Brent W Zanke, Goncalo R Abeçasis, Christopher S Carlson, Ulrike Peters, Deborah A Nickerson, Anshul Kundaje, Li Hsu, GECCO and CCFR

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Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants. by Mengmeng Du, Shuo Jiao, Stephanie A Bien, Manish Gala, Goncalo Abecasis, Stephane Bezieau, Hermann Brenner, Katja Butterbach, Bette J Caan, Christopher S Carlson, Graham Casey, Jenny Chang-Claude, David V Conti, Keith R Curtis, David Duggan, Steven Gallinger, Robert W Haile, Tabitha A Harrison, Richard B Hayes, Michael Hoffmeister, John L Hopper, Thomas J Hudson, Mark A Jenkins, Sébastien Küry, Loic Le Marchand, Suzanne M Leal, Polly A Newcomb, Deborah A Nickerson, John D Potter, Robert E Schoen, Fredrick R Schumacher, Daniela Seminara, Martha L Slattery, Li Hsu, Andrew T Chan, Emily White, Sonja I Berndt, Ulrike Peters

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Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease by Lenglet, M, Robriquet, F, Schwarz, K, Camps, C, Couturier, A, Hoogewijs, D, Buffet, A, Knight, SJ, Gad, S, Couvé, S, Chesnel, F, Pacault, M, Lindenbaum, P, Job, S, Dumont, S, Besnard, T, Cornec, M, Dreau, H, Pentony, M, Kvikstad, E, Deveaux, S, Burnichon, N, Ferlicot, S, Vilaine, M, Mazzella, J-M, Airaud, F, Garrec, C, Heidet, L, Irtan, S, Mantadakis, E, Bouchireb, K, Debatin, K-M, Redon, R, Bezieau, S, Paillerets, B, Teh, BT, Girodon, F, Randi, M-L, Putti, MC, Bours, V, Van Wijk, R, Göthert, JR, Kattamis, A, Janin, N, Bento, C, Taylor, JC, Arlot-Bonnemains, Y, Richard, S, Gimenez-Roqueplo, A-P, Cario, H, Gardie, B

Genome-wide search for gene-gene interactions in colorectal cancer. by Shuo Jiao, Li Hsu, Sonja Berndt, Stéphane Bézieau, Hermann Brenner, Daniel Buchanan, Bette J Caan, Peter T Campbell, Christopher S Carlson, Graham Casey, Andrew T Chan, Jenny Chang-Claude, Stephen Chanock, David V Conti, Keith R Curtis, David Duggan, Steven Gallinger, Stephen B Gruber, Tabitha A Harrison, Richard B Hayes, Brian E Henderson, Michael Hoffmeister, John L Hopper, Thomas J Hudson, Carolyn M Hutter, Rebecca D Jackson, Mark A Jenkins, Elizabeth D Kantor, Laurence N Kolonel, Sébastien Küry, Loic Le Marchand, Mathieu Lemire, Polly A Newcomb, John D Potter, Conghui Qu, Stephanie A Rosse, Robert E Schoen, Fred R Schumacher, Daniela Seminara, Martha L Slattery, Cornelia M Ulrich, Brent W Zanke, Ulrike Peters

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Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer. by Jian Gong, Carolyn M Hutter, Polly A Newcomb, Cornelia M Ulrich, Stephanie A Bien, Peter T Campbell, John A Baron, Sonja I Berndt, Stephane Bezieau, Hermann Brenner, Graham Casey, Andrew T Chan, Jenny Chang-Claude, Mengmeng Du, David Duggan, Jane C Figueiredo, Steven Gallinger, Edward L Giovannucci, Robert W Haile, Tabitha A Harrison, Richard B Hayes, Michael Hoffmeister, John L Hopper, Thomas J Hudson, Jihyoun Jeon, Mark A Jenkins, Jonathan Kocarnik, Sébastien Küry, Loic Le Marchand, Yi Lin, Noralane M Lindor, Reiko Nishihara, Shuji Ogino, John D Potter, Anja Rudolph, Robert E Schoen, Petra Schrotz-King, Daniela Seminara, Martha L Slattery, Stephen N Thibodeau, Mark Thornquist, Reka Toth, Robert Wallace, Emily White, Shuo Jiao, Mathieu Lemire, Li Hsu, Ulrike Peters, CCFR and GECCO

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