French Exome Consortium (Emmanuelle Génin, Emmanuelle Genin)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 27

Top Venues

Genes

Science (New York, N.Y.)

European journal of human genetics : EJHG

Genetic epidemiology

Inserm U1078

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Inserm U1078

France

Directrice de Recherche :: 29

Publications

Mandy L Ballinger, Swetansu Pattnaik, Piyushkumar A Mundra, Milita Zaheed, Emma M Rath, Peter Priestley, Jonathan Baber, Isabelle Ray Coquard, Nicholas Isambert, Sylvain Causeret, Winette T A van der Graaf, Ajay Puri, Florence Duffaud, Axel Le Cesne, Beatrice Seddon, Coonoor Chandrasekar, Joshua D Schiffman, Andrew S Brohl, Paul A James, Jean-Emmanuel Kurtz, Nicolas Penel, Ola Myklebost, Leonardo A Meza-Zepeda, Hilda Pickett, Maya Kansara, Nicola Waddell, Olga Kondrashova, John V Pearson, Andrew P Barbour, Sherly X Li, Tuong Linh Nguyen, Diane Fatkin, Robert M Graham, Eleni Giannoulatou, Melissa J Green, Warren Kaplan, Shyamsundar Ravishankar, Joseph Copty, Joseph E Powell, Edwin Cuppen, Kristel van Eijk, Jan Herman Veldink, Jin-Hee Ahn, Jeong Eun Kim, Robert Lor Randall, Katherine M Tucker, Ian Judson, Rajiv Sarin, Thomas E Ludwig, French Exome Consortium, Jean François Deleuze, null null, Michelle Haber, Glenn M Marshall, Murray J Cairns, Jean Yves Blay, null null, David M Thomas, Martin Tattersall, Susan Neuhaus, Craig Lewis, Kathy Tucker, Richard Carey-Smith, David Wood, Sandro Porceddu, Ian Dickinson, Heather Thorne, Paul James, Isabelle Ray-Coquard, Jean-Yves Blay, Philippe Cassier, Axel Le Cesne, Florence Duffaud, Nicolas Penel, Nicolas Isambert, Jean-Emmanuel Kurtz, Ajay Puri, Rajiv Sarin, Jin-Hee Ahn, Jeong Eun Kim, Iain Ward, Ian Judson, Winette van der Graaf, Beatrice Seddon, Coonoor Chandrasekar, Rory Rickar, Ivo Hennig, Joshua Schiffman, R Lor Randall, Audrey Silvestri, Anaiis Zaratzian, Michael Tayao, Kelly Walwyn, Eveline Niedermayr, Denia Mang, Richard Clark, Tina Thorpe, Jessica MacDonald, Kim Riddell, Jasmine Mar, Vicki Fennelly, Allison Wicht, Belinda Zielony, Emma Galligan, Genna Glavich, Johanna Stoeckert, Lynda Williams, Lana Djandjgava, Iwona Buettner, Carla Osinki, Sonya Stephens, Muriel Rogasik, Laure Bouclier, Magali Girodet, Amandine Charreton, Yohan Fayet, Saniya Crasto, Bhanupriya Sandupatla, Yeon Yoon, Noda Je, Liz Thompson, Trent Fowler, Bella Johnson, Galina Petrikova, Thomas Hambridge, Angela Hutchins, Diego Bottero, Deborah Scanlon, Jo Stokes-Denson, Emmanuelle Génin, Dominique Campion, Jean-François Dartigues, Jean-François Deleuze, Jean-Charles Lambert, Richard Redon, Thomas Ludwig, Benjamin Grenier-Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Christian Dina, Céline Bellenguez, Camille Charbonnier Le Clézio, Joanna Giemza, Stéphanie Chatel, Claude Férec, Hervé Le Marec, Luc Letenneur, Gaël Nicolas, Karen Rouault
Heritable defects in telomere and mitotic function selectively predispose to sarcomas. Science (New York, N.Y.) 379 (6629) (2023)
Thibault Dekeyser, French Exome Consortium, Anthony Francis Herzig
Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance. Genes 14 (2) (2023)
Mandy L Ballinger, Swetansu Pattnaik, Piyushkumar A Mundra, Milita Zaheed, Emma M Rath, Peter Priestley, Jonathan Baber, Isabelle Ray Coquard, Nicholas Isambert, Sylvain Causeret, Winette T A van der Graaf, Ajay Puri, Florence Duffaud, Axel Le Cesne, Beatrice Seddon, Coonoor Chandrasekar, Joshua D Schiffman, Andrew S Brohl, Paul A James, Jean-Emmanuel Kurtz, Nicolas Penel, Ola Myklebost, Leonardo A Meza-Zepeda, Hilda Pickett, Maya Kansara, Nicola Waddell, Olga Kondrashova, John V Pearson, Andrew P Barbour, Sherly X Li, Tuong Linh Nguyen, Diane Fatkin, Robert M Graham, Eleni Giannoulatou, Melissa J Green, Warren Kaplan, Shyamsundar Ravishankar, Joseph Copty, Joseph E Powell, Edwin Cuppen, Kristel van Eijk, Jan Herman Veldink, Jin-Hee Ahn, Jeong Eun Kim, Robert Lor Randall, Katherine M Tucker, Ian Judson, Rajiv Sarin, Thomas E Ludwig, French Exome Consortium, Jean François Deleuze, null null, Michelle Haber, Glenn M Marshall, Murray J Cairns, Jean Yves Blay, null null, David M Thomas, Martin Tattersall, Susan Neuhaus, Craig Lewis, Kathy Tucker, Richard Carey-Smith, David Wood, Sandro Porceddu, Ian Dickinson, Heather Thorne, Paul James, Isabelle Ray-Coquard, Jean-Yves Blay, Philippe Cassier, Axel Le Cesne, Florence Duffaud, Nicolas Penel, Nicolas Isambert, Jean-Emmanuel Kurtz, Ajay Puri, Rajiv Sarin, Jin-Hee Ahn, Jeong Eun Kim, Iain Ward, Ian Judson, Winette van der Graaf, Beatrice Seddon, Coonoor Chandrasekar, Rory Rickar, Ivo Hennig, Joshua Schiffman, R Lor Randall, Audrey Silvestri, Anaiis Zaratzian, Michael Tayao, Kelly Walwyn, Eveline Niedermayr, Denia Mang, Richard Clark, Tina Thorpe, Jessica MacDonald, Kim Riddell, Jasmine Mar, Vicki Fennelly, Allison Wicht, Belinda Zielony, Emma Galligan, Genna Glavich, Johanna Stoeckert, Lynda Williams, Lana Djandjgava, Iwona Buettner, Carla Osinki, Sonya Stephens, Muriel Rogasik, Laure Bouclier, Magali Girodet, Amandine Charreton, Yohan Fayet, Saniya Crasto, Bhanupriya Sandupatla, Yeon Yoon, Noda Je, Liz Thompson, Trent Fowler, Bella Johnson, Galina Petrikova, Thomas Hambridge, Angela Hutchins, Diego Bottero, Deborah Scanlon, Jo Stokes-Denson, Emmanuelle Génin, Dominique Campion, Jean-François Dartigues, Jean-François Deleuze, Jean-Charles Lambert, Richard Redon, Thomas Ludwig, Benjamin Grenier-Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Christian Dina, Céline Bellenguez, Camille Charbonnier Le Clézio, Joanna Giemza, Stéphanie Chatel, Claude Férec, Hervé Le Marec, Luc Letenneur, Gaël Nicolas, Karen Rouault
Heritable defects in telomere and mitotic function selectively predispose to sarcomas. Science (New York, N.Y.) 379 (6629) (2023)
Mandy L Ballinger, Swetansu Pattnaik, Piyushkumar A Mundra, Milita Zaheed, Emma M Rath, Peter Priestley, Jonathan Baber, Isabelle Ray Coquard, Nicholas Isambert, Sylvain Causeret, Winette T A van der Graaf, Ajay Puri, Florence Duffaud, Axel Le Cesne, Beatrice Seddon, Coonoor Chandrasekar, Joshua D Schiffman, Andrew S Brohl, Paul A James, Jean-Emmanuel Kurtz, Nicolas Penel, Ola Myklebost, Leonardo A Meza-Zepeda, Hilda Pickett, Maya Kansara, Nicola Waddell, Olga Kondrashova, John V Pearson, Andrew P Barbour, Sherly X Li, Tuong Linh Nguyen, Diane Fatkin, Robert M Graham, Eleni Giannoulatou, Melissa J Green, Warren Kaplan, Shyamsundar Ravishankar, Joseph Copty, Joseph E Powell, Edwin Cuppen, Kristel van Eijk, Jan Herman Veldink, Jin-Hee Ahn, Jeong Eun Kim, Robert Lor Randall, Katherine M Tucker, Ian Judson, Rajiv Sarin, Thomas E Ludwig, French Exome Consortium, Jean François Deleuze, null null, Michelle Haber, Glenn M Marshall, Murray J Cairns, Jean Yves Blay, null null, David M Thomas, Martin Tattersall, Susan Neuhaus, Craig Lewis, Kathy Tucker, Richard Carey-Smith, David Wood, Sandro Porceddu, Ian Dickinson, Heather Thorne, Paul James, Isabelle Ray-Coquard, Jean-Yves Blay, Philippe Cassier, Axel Le Cesne, Florence Duffaud, Nicolas Penel, Nicolas Isambert, Jean-Emmanuel Kurtz, Ajay Puri, Rajiv Sarin, Jin-Hee Ahn, Jeong Eun Kim, Iain Ward, Ian Judson, Winette van der Graaf, Beatrice Seddon, Coonoor Chandrasekar, Rory Rickar, Ivo Hennig, Joshua Schiffman, R Lor Randall, Audrey Silvestri, Anaiis Zaratzian, Michael Tayao, Kelly Walwyn, Eveline Niedermayr, Denia Mang, Richard Clark, Tina Thorpe, Jessica MacDonald, Kim Riddell, Jasmine Mar, Vicki Fennelly, Allison Wicht, Belinda Zielony, Emma Galligan, Genna Glavich, Johanna Stoeckert, Lynda Williams, Lana Djandjgava, Iwona Buettner, Carla Osinki, Sonya Stephens, Muriel Rogasik, Laure Bouclier, Magali Girodet, Amandine Charreton, Yohan Fayet, Saniya Crasto, Bhanupriya Sandupatla, Yeon Yoon, Noda Je, Liz Thompson, Trent Fowler, Bella Johnson, Galina Petrikova, Thomas Hambridge, Angela Hutchins, Diego Bottero, Deborah Scanlon, Jo Stokes-Denson, Emmanuelle Génin, Dominique Campion, Jean-François Dartigues, Jean-François Deleuze, Jean-Charles Lambert, Richard Redon, Thomas Ludwig, Benjamin Grenier-Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Christian Dina, Céline Bellenguez, Camille Charbonnier Le Clézio, Joanna Giemza, Stéphanie Chatel, Claude Férec, Hervé Le Marec, Luc Letenneur, Gaël Nicolas, Karen Rouault
Heritable defects in telomere and mitotic function selectively predispose to sarcomas. Science (New York, N.Y.) 379 (6629) (2023)
Thibault Dekeyser, French Exome Consortium, Anthony Francis Herzig
Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance. Genes 14 (2) (2023)
Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, French Exome Consortium, Richard Redon, Florian Sandron, Anne Boland-Auge, Jean François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects. International journal of molecular sciences 24 (10) (2023)
Mandy L Ballinger, Swetansu Pattnaik, Piyushkumar A Mundra, Milita Zaheed, Emma M Rath, Peter Priestley, Jonathan Baber, Isabelle Ray Coquard, Nicholas Isambert, Sylvain Causeret, Winette T A van der Graaf, Ajay Puri, Florence Duffaud, Axel Le Cesne, Beatrice Seddon, Coonoor Chandrasekar, Joshua D Schiffman, Andrew S Brohl, Paul A James, Jean-Emmanuel Kurtz, Nicolas Penel, Ola Myklebost, Leonardo A Meza-Zepeda, Hilda Pickett, Maya Kansara, Nicola Waddell, Olga Kondrashova, John V Pearson, Andrew P Barbour, Sherly X Li, Tuong Linh Nguyen, Diane Fatkin, Robert M Graham, Eleni Giannoulatou, Melissa J Green, Warren Kaplan, Shyamsundar Ravishankar, Joseph Copty, Joseph E Powell, Edwin Cuppen, Kristel van Eijk, Jan Herman Veldink, Jin-Hee Ahn, Jeong Eun Kim, Robert Lor Randall, Katherine M Tucker, Ian Judson, Rajiv Sarin, Thomas E Ludwig, French Exome Consortium, Jean François Deleuze, null null, Michelle Haber, Glenn M Marshall, Murray J Cairns, Jean Yves Blay, null null, David M Thomas, Martin Tattersall, Susan Neuhaus, Craig Lewis, Kathy Tucker, Richard Carey-Smith, David Wood, Sandro Porceddu, Ian Dickinson, Heather Thorne, Paul James, Isabelle Ray-Coquard, Jean-Yves Blay, Philippe Cassier, Axel Le Cesne, Florence Duffaud, Nicolas Penel, Nicolas Isambert, Jean-Emmanuel Kurtz, Ajay Puri, Rajiv Sarin, Jin-Hee Ahn, Jeong Eun Kim, Iain Ward, Ian Judson, Winette van der Graaf, Beatrice Seddon, Coonoor Chandrasekar, Rory Rickar, Ivo Hennig, Joshua Schiffman, R Lor Randall, Audrey Silvestri, Anaiis Zaratzian, Michael Tayao, Kelly Walwyn, Eveline Niedermayr, Denia Mang, Richard Clark, Tina Thorpe, Jessica MacDonald, Kim Riddell, Jasmine Mar, Vicki Fennelly, Allison Wicht, Belinda Zielony, Emma Galligan, Genna Glavich, Johanna Stoeckert, Lynda Williams, Lana Djandjgava, Iwona Buettner, Carla Osinki, Sonya Stephens, Muriel Rogasik, Laure Bouclier, Magali Girodet, Amandine Charreton, Yohan Fayet, Saniya Crasto, Bhanupriya Sandupatla, Yeon Yoon, Noda Je, Liz Thompson, Trent Fowler, Bella Johnson, Galina Petrikova, Thomas Hambridge, Angela Hutchins, Diego Bottero, Deborah Scanlon, Jo Stokes-Denson, Emmanuelle Génin, Dominique Campion, Jean-François Dartigues, Jean-François Deleuze, Jean-Charles Lambert, Richard Redon, Thomas Ludwig, Benjamin Grenier-Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Christian Dina, Céline Bellenguez, Camille Charbonnier Le Clézio, Joanna Giemza, Stéphanie Chatel, Claude Férec, Hervé Le Marec, Luc Letenneur, Gaël Nicolas, Karen Rouault
Heritable defects in telomere and mitotic function selectively predispose to sarcomas. Science (New York, N.Y.) 379 (6629) (2023)
Ozvan Bocher, Gaelle Marenne, French Exome Consortium, Hervé Perdry
Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes. Genetic epidemiology (2023)
Thibault Dekeyser, French Exome Consortium, Anthony Francis Herzig
Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance. Genes 14 (2) (2023)
Ozvan Bocher, Thomas E Ludwig, Marie-Sophie Oglobinsky, Gaelle Marenne, Jean-François Deleuze, Suryakant Suryakant, Jacob Odeberg, Pierre-Emmanuel Morange, David Alexandre Trégouët, Hervé Perdry, French Exome Consortium
Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score. PLoS genetics 18 (9) (2022)
Henne Holstege, Marc Hulsman, Camille Charbonnier, Benjamin Grenier-Boley, Olivier Quenez, Detelina Grozeva, Jeroen G J van Rooij, Rebecca Sims, Shahzad Ahmad, Ivana Nedeljković, Penny J Norsworthy, Oriol Dols-Icardo, Holger Hummerich, Amit Kawalia, Phillippe Amouyel, Gary W Beecham, Claudine Berr, Joshua C Bis, Anne Boland, Paola Bossù, Femke Bouwman, Jose Bras, Dominique Campion, Jesse Nicholas Cochran, Antonio Daniele, Jean-François Dartigues, Stephanie Debette, Jean-François Deleuze, Nicola Denning, Anita L DeStefano, Lindsay A Farrer, Maria Victoria Fernandez, Nick C Fox, Daniela Galimberti, French Exome Consortium, Johan J P Gille, Yann Le Guen, Rita Guerreiro, Jonathan L Haines, Clive Holmes, Mohammad Arfan Ikram, M Kamran Ikram, Iris E Jansen, Robert Kraaij, Marc Lathrop, Afina W Lemstra, Alberto Lleó, Lauren Luckcuck, Marcel M A M Mannens, Rachel Marshall, Eden R Martin, Carlo Masullo, Richard Mayeux, Patrizia Mecocci, Alun Meggy, Merel O Mol, Kevin Morgan, Richard M Myers, Benedetta Nacmias, Adam C Naj, Valerio Napolioni, Florence Pasquier, Pau Pastor, Margaret A Pericak-Vance, Rachel Raybould, Richard Redon, Marcel J T Reinders, Anne-Claire Richard, Steffi G Riedel-Heller, Fernando Rivadeneira, Stéphane Rousseau, Natalie S Ryan, Salha Saad, Pascual Sánchez Juan, Gerard D Schellenberg, Philip Scheltens, Jonathan M Schott, Davide Seripa, Sudha Seshadri, Daoud Sie, Erik A Sistermans, Sandro Sorbi, Rosalina M L van Spaendonk, Gianfranco Spalletta, Niccolo' Tesi, Betty Tijms, Andre G Uitterlinden, Sven J Van der Lee, Pieter Jelle Visser, Michael Wagner, David Wallon, Li-San Wang, Aline Zarea, Jordi Clarimon, John C van Swieten, Michael D Greicius, Jennifer S Yokoyama, Carlos Cruchaga, John Hardy, Alfredo Ramirez, Simon Mead, Wiesje Maria van der Flier, Cornelia M Van Duijn, Julie Williams, Gaël Nicolas, Celine Bellenguez, Jean-Charles Lambert
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease. Nature genetics 54 (12) (2022)
Anthony F Herzig, Françoise Clerget-Darpoux, French Exome Consortium
The False Dawn of Polygenic Risk Scores for Human Disease Prediction. Journal of personalized medicine 12 (8) (2022)
Nicolas Robette, French Exome Consortium, Françoise Clerget-Darpoux
Heritability: What's the point? What is it not for? A human genetics perspective. Genetica 150 (3-4) (2022)
Mégane Collobert, Ozvan Bocher, Anaïs Le Nabec, French Exome Consortium, Claude Férec, Stéphanie Moisan
CFTR Cooperative Cis-Regulatory Elements in Intestinal Cells. International journal of molecular sciences 22 (5) (2021)
Pascal Trouvé, Claude Férec, French Exome Consortium
The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis. Cells 10 (11) (2021)
Jian-Min Chen, Anthony Francis Herzig, French Exome Consortium, Emmanuelle Masson, David N Cooper, Claude Férec
Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review. Genes 12 (4) (2021)
Anthony Francis Herzig, Lourdes Velo-Suárez, Gaëlle Le Folgoc, Anne Boland, Hélène Blanché, Robert Olaso, Liana Le Roux, Christelle Delmas, Marcel Goldberg, Marie Zins, Franck Lethimonnier, Jean-François Deleuze, French Exome Consortium
Evaluation of saliva as a source of accurate whole-genome and microbiome sequencing data. Genetic epidemiology 45 (5) (2021)
French Exome Consortium, David N Cooper, Emmanuelle Masson, Claude Férec, Jian-Min Chen
NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis. Gut (2021)
Ozvan Bocher, Gaelle Marenne, Elisabeth Tournier-Lasserve, null null, French Exome Consortium, Hervé Perdry
Extension of SKAT to multi-category phenotypes through a geometrical interpretation. European journal of human genetics : EJHG 29 (5) (2021)
Na Pu, Emmanuelle Masson, David N Cooper, French Exome Consortium, Claude Férec, Jian-Min Chen
Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large. Genes 12 (11) (2021)
Aude Saint Pierre, Joanna Giemza, Isabel Alves, Matilde Karakachoff, Marinna Gaudin, Philippe Amouyel, Jean-François Dartigues, Christophe Tzourio, Martial Monteil, Pilar Galan, Serge Hercberg, Iain Mathieson, Richard Redon, French Exome Consortium, Christian Dina
The genetic history of France. European journal of human genetics : EJHG 28 (7) (2020)
Anthony F Herzig, French Exome Consortium, David N Cooper, Emmanuelle Masson, Claude Férec, Jian-Min Chen
Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses. Genes 11 (11) (2020)
Ozvan Bocher, French Exome Consortium
Rare variant association testing in the non-coding genome. Human genetics 139 (11) (2020)
French Exome Consortium
Missing heritability of complex diseases: case solved? Human genetics 139 (1) (2019)
Melodie Aubart, Steven Gazal, Pauline Arnaud, Louise Benarroch, Marie-Sylvie Gross, Julien Buratti, Anne Boland, Vincent Meyer, Habib Zouali, Nadine Hanna, Olivier Milleron, Chantal Stheneur, Thomas Bourgeron, Isabelle Desguerre, Marie-Paule Jacob, Laurent Gouya, French Exome Consortium, Jean-François Deleuze, Guillaume Jondeau, Catherine Boileau
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability. European journal of human genetics : EJHG 26 (12) (2018)
Philip Farrell, Claude Férec, Milan Macek, Thomas Frischer, Sabine Renner, Katharina Riss, David Barton, Teresa Repetto, Maria Tzetis, Karine Giteau, Morten Duno, Melissa Rogers, Hara Levy, Mourad Sahbatou, Yann Fichou, Cédric Le Maréchal, French Exome Consortium
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis. European journal of human genetics : EJHG 26 (12) (2018)
Elodie Persyn, Matilde Karakachoff, Solena Le Scouarnec, Camille Le Clézio, Dominique Campion, French Exome Consortium, Jean-Jacques Schott, Richard Redon, Lise Bellanger, Christian Dina
DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease. PloS one 12 (7) (2017)

French Exome Consortium.css-eqlu8i{font-size:small;padding-left:4px;} (Emmanuelle Génin, Emmanuelle Genin)

Publication Activity (10 Years)

Top Topics

Top Venues

French Exome Consortium (Emmanuelle Génin, Emmanuelle Genin)