Richard Redon
Active 2001–2025
- 78
- Papers
- 18,305
- Citations
- 48
- h-index
- 67
- i10-index
Citations
Citation sources
Countries
Institutions
Fields
- Biochemistry, Genetics and Molecular Biology62.4%
- Medicine23.7%
- Neuroscience5.3%
- Agricultural and Biological Sciences2.3%
- Immunology and Microbiology2%
- Computer Science0.9%
- Other3.4%
Topics
- Genomic variations and chromosomal abnormalities9.9%
- Genomics and Rare Diseases5%
- Genetic Associations and Epidemiology3.7%
- Chromosomal and Genetic Variations3.2%
- Genomics and Phylogenetic Studies2.9%
- Genetics and Neurodevelopmental Disorders2.6%
- Other72.7%
Coauthors
- Pierre Lindenbaum13
- Nigel P. Carter12
- Matthew E. Hurles10
- Christian Dina9
- Matilde Karakachoff9
- Anne Boland8
- Julien Barc8
- Vincent Probst8
- Alban Gaignard7
- Charles Lee7
- Emmanuelle Génin7
- Jean‐François Deleuze7
- Solena Le Scouarnec7
- Anne‐Sophie Denommé‐Pichon6
- Floriane Simonet6
- Hervé Le Marec6
- Jean‐Baptiste Gourraud6
- Jean‐Jacques Schott6
- Philippe Amouyel6
- Vincent Meyer6
- Arie O. Verkerk5
- Armand Valsesia5
- Benjamin Grenier‐Boley5
- Camille Charbonnier5
All papers
- Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease
Authors: Henne Holstege, Marc Hulsman, Camille Charbonnier, Benjamin Grenier‐Boley, Olivier Quenez, Detelina Grozeva, Jeroen van Rooij, Rebecca Sims, Shahzad Ahmad, Najaf Amin, Penny J. Norsworthy, Oriol Dols‐Icardo, Holger Hummerich, Amit Kawalia, Philippe Amouyel, Gary W. Beecham, Claudine Berr, Joshua C. Bis, Anne Boland, Paola Bossù, Femke H. Bouwman, José Brás, Dominique Campion, J. Nicholas Cochran, Antonio Daniele, Jean‐François Dartigues, Stéphanie Debette, Jean-François Deleuze, Nicola Denning, Anita L. DeStefano, Lindsay A. Farrer, María Victoria Fernández, Nick C. Fox, Daniela Galimberti, Emmanuelle Génin, Johan J. P. Gille, Yann Le Guen, Rita Guerreiro, Jonathan L. Haines, Clive Holmes, M. Arfan Ikram, M. Kamran Ikram, Iris E. Jansen, Robert Kraaij, M Lathrop, Afina W. Lemstra, Alberto Lleó, Lauren Luckcuck, Marcel M. A. M. Mannens, Iain Marshall, Eden R. Martin, Carlo Masullo, Richard Mayeux, Patrizia Mecocci, Alun Meggy, Merel O. Mol, Kevin Morgan, R Myers, Benedetta Nacmias, Adam C. Naj, Valerio Napolioni, Florence Pasquier, Pau Pástor, Margaret A. Pericak‐Vance, Rachel Raybould, Richard Redon, Marcel 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, Resie van Spaendonk, Gianfranco Spalletta, Niccoló Tesi, Betty M. Tijms, André G. Uitterlinden, Sven J. van der Lee, Pieter Jelle Visser, Michael Wagner, David Wallon, Li-San Wang, Aline Zaréa, Jordi Clarimón, John C. van Swieten, Michael D. Greicius, Jennifer S. Yokoyama, Carlos Cruchaga, John Hardy, Alfredo Ramı́rez and 7 more - Nature Genetics 2022 cited by 219
- Global variation in copy number in the human genome
Authors: Richard Redon, Shumpei Ishikawa, Karen Fitch, Lars Feuk, George H. Perry, T. Daniel Andrews, Heike Fiegler, Michael H. Shapero, Andrew R. Carson, Wenwei Chen, Eun Kyung Cho, Stephanie Dallaire, Jennifer L. Freeman, Juan R. González, Mónica Gratacòs, Jing Huang, Dimitrios Rafail Kalaitzopoulos, Daisuke Komura, Jeffrey R. MacDonald, Christian R. Marshall, Rui Mei, Lyndal Montgomery, Kunihiro Nishimura, K. Okamura, Fan Shen, Martin J. Somerville, Joëlle Tchinda, Armand Valsesia, Cara Woodwark, Fengtang Yang, Junjun Zhang, Tatiana Zerjal, Jane Zhang, Lluı́s Armengol, Donald F. Conrad, Xavier Estivill, Chris Tyler‐Smith, Nigel P. Carter, Hiroyuki Aburatani, Charles Lee, Keith Jones, Stephen W. Scherer, Matthew E. Hurles - Nature 2006 cited by 4,386
- Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
Authors: HUNT All-In Stroke, Mark K. Bakker, China Kadoorie Biobank Collaborative Group, The ICAN Study Group, CADISP Group, Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study investigators, Rick A. A. van der Spek, Wouter van Rheenen, Sandrine Morel, Romain Bourcier, Isabel C. Hostettler, Varinder S. Alg, Kristel R. van Eijk, Masaru Koido, Masato Akiyama, Chikashi Terao, Koichi Matsuda, Robin Walters, Kuang Lin, Liming Li, Iona Y. Millwood, Zhengming Chen, Guy A. Rouleau, Sirui Zhou, Kristiina Rannikmäe, Cathie Sudlow, Henry Houlden, Leonard H. van den Berg, Christian Dina, Olivier Naggara, Jean‐Christophe Gentric, Eimad Shotar, François Eugène, Hubert Desal, Bendik S. Winsvold, Sigrid Børte, Marianne Bakke Johnsen, Ben Brumpton, Marie Søfteland Sandvei, Cristen J. Willer, Kristian Hveem, John‐Anker Zwart, W. M. Monique Verschuren, Christoph M. Friedrich, Sven Hirsch, Sabine Schilling, Jérôme Dauvillier, O. Martin, Gregory T. Jones, Matthew J. Bown, Nerissa Ko, Helen Kim, Jonathan R. I. Coleman, Gerome Breen, Jonathan G. Zaroff, Catharina J.M. Klijn, Rainer Malik, Martin Dichgans, Muralidharan Sargurupremraj, Turgut Tatlisumak, Philippe Amouyel, Stéphanie Debette, Gabriël J.E. Rinkel, Bradford B. Worrall, Joanna Pera, Agnieszka Słowik, Emília Gaál‐Paavola, Mika Niemelä, Juha E. Jääskeläinen, Mikael von und zu Fraunberg, Antti Lindgren, Joseph Broderick, David J. Werring, Daniel Woo, Richard Redon, Philippe Bijlenga, Yoichiro Kamatani, Jan H. Veldink, Ynte M. Ruigrok - Nature Genetics 2020 cited by 346
- Diet and the evolution of human amylase gene copy number variation
Authors: George H. Perry, Nathaniel J. Dominy, Katrina G. Claw, Arthur S. Lee, Heike Fiegler, Richard Redon, John C. Werner, Fernando A. Villanea, Joanna L. Mountain, Rajeev Misra, Nigel P. Carter, Charles Lee, Anne C. Stone - Nature Genetics 2007 cited by 1,500
- Origins and functional impact of copy number variation in the human genome
Authors: Donald F. Conrad, Dalila Pinto, Richard Redon, Lars Feuk, Ömer Gökçümen, Yujun Zhang, Jan Aerts, T. Daniel Andrews, C. Barnes, Peter J. Campbell, Tomas Fitzgerald, Min Hu, Chun Hwa Ihm, Kati Kristiansson, Daniel G. MacArthur, Jeffrey R. MacDonald, Ifejinelo Onyiah, Andy Wing Chun Pang, Samuel C. Robson, Kathy Stirrups, Armand Valsesia, Klaudia Walter, John Wei, Chris Tyler‐Smith, Nigel P. Carter, Charles Lee, Stephen W. Scherer, Matthew E. Hurles - Nature 2009 cited by 2,062
- Genetic Association Analyses Highlight IL6 , ALPL , and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis
Authors: Sébastien Thériault, Christian Dina, David Messika–Zeitoun, Solena Le Scouarnec, Romain Capoulade, Nathalie Gaudreault, Sidwell Rigade, Zhonglin Li, Floriane Simonet, Maxime Lamontagne, Marie‐Annick Clavel, Benoît J. Arsenault, Anne‐Sophie Boureau, Simon Lecointe, Estelle Baron, Stéphanie Bonnaud, Matilde Karakachoff, Éric Charpentier, Imen Fellah, Jean‐Christian Roussel, Jean Philippe Verhoye, Christophe Baufreton, Vincent Probst, Ronan Roussel, Richard Redon, François Dagenais, Philippe Pîbarot, Patrick Mathieu, Thierry Le Tourneau, Yohan Bossé, Jean‐Jacques Schott, B. Balkau, Pierre Ducimetière, Eveline Eschwège, François Alhenc‐Gelas, A Girault, Frédéric Fumeron, Michel Marre, Fabrice Bonnet, Amélie Bonnefond, Philippe Froguel, Fanny Rancière, Joël Cogneau, C. Born, E Cacès, M. Cailleau, Olivier Lantieri, J.G. Moreau, F Rakotozafy, Jean Tichet, Sylviane Vol - Circulation Genomic and Precision Medicine 2019 cited by 82
- Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
Authors: Alexandre Bélot, Gillian Rice, Sulliman Ommar Omarjee, Quentin Rouchon, Eve Smith, Marion Moreews, Maud Tusseau, Cécile Frachette, Raphael Bournhonesque, Nicole M. Thielens, Christine Gaboriaud, Isabelle Rouvet, Emilie Chopin, Akihiro Hoshino, Sylvain Latour, Bruno Ranchin, Rolando Cimaz, Paula Romagnani, Christophe Malcus, Nicole Fabien, Marie-Nathalie Kolopp Sarda, Behrouz Kassaï, Jean‐Christophe Lega, Stéphane Decramer, Pauline Abou-Jaoudé, Ian N Bruce, Thomas Simonet, Claire Bardel, Pierre Antoine Rollat‐Farnier, Sébastien Viel, Héloïse Reumaux, James O’Sullivan, Thierry Walzer, Anne‐Laure Mathieu, Gaëlle Marenne, Thomas Ludwig, Emmanuelle Génin, Jamie M. Ellingford, Brigitte Bader-Meunier, Tracy A. Briggs, Michael W. Beresford, Yanick J. Crow, Dominique Campion, Jean‐François Dartigues, Jean‐François Deleuze, Emmanuelle Génin, Jean‐Charles Lambert, Richard Redon, Emma Allain-Launay, Brigitte Bader‐Meunier, Alexandre Bélot, Kenza Bouayed, Stéphane Burtey, Aurélia Carbasse, Stéphane Decramer, V. Despert, O. Fain, Michel Fischbach, Hugues Flodrops, Caroline Galeotti, Eric Hachulla, Yves Hatchuel, J.F. Kleinmann, Isabelle Koné‐Paut, Aurélia Lanteri, I. Lemelle, Hélène Maillard, François Maurier, Ulrich Meinzer, Isabelle Melki, S. Morell‐Dubois, Anne Pagnier, Maryam Piram, Bruno Ranchin, Héloïse Reumaux, Charlotte Samaille, Jean Sibilia, Olivia Weill, Eslam Al-Abadi, Kate Armon, Kathryn Bailey, Michael W. Beresford, Mary Brennan, Coziana Ciurtin, Janet Gardner‐Medwin, Kirsty Haslam, Daniel Hawley, Alice Leahy, Valentina Leone, Devesh Mewar, Rob Moots, Clarissa Pilkington, Athimalaipet V Ramanan, Satyapal Rangaraj, Annie Ratcliffe, Philip Riley, Ethan S Sen, Arani Sridhar, Nick Wilkinson, Fiona Wood - The Lancet Rheumatology 2020 cited by 92
- Copy number variation: New insights in genome diversity
Authors: Jennifer L. Freeman, George H. Perry, Lars Feuk, Richard Redon, Steven A. McCarroll, David Altshuler, Hiroyuki Aburatani, Keith Jones, Chris Tyler‐Smith, Matthew E. Hurles, Nigel P. Carter, Stephen W. Scherer, Charles Lee - Genome Research 2006 cited by 870
- Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
Authors: Connie R. Bezzina, Julien Barc, Yuka Mizusawa, Carol Ann Remme, Jean‐Baptiste Gourraud, Floriane Simonet, Arie O. Verkerk, Peter J. Schwartz, Lia Crotti, Federica Dagradi, Pascale Guicheney, Véronique Fressart, Antoine Leenhardt, Charles Antzelevitch, S. Bartkowiak, Martin Borggrefe, Rainer Schimpf, Eric Schulze‐Bahr, Sven Zumhagen, Elijah R. Behr, Rachel Bastiaenen, Jacob Tfelt‐Hansen, Morten S. Olesen, Stefan Kääb, Britt Maria Beckmann, Peter Weeke, Hiroshi Watanabe, Naoto Endo, Tohru Minamino, Minoru Horie, Seiko Ohno, Kanae Hasegawa, Naomasa Makita, Akihiko Nogami, Wataru Shimizu, Takeshi Aiba, Philippe Froguel, Beverley Balkau, Olivier Lantieri, Margherita Torchio, Cornelia Wiese, David Weber, Rianne Wolswinkel, Ruben Coronel, Bastiaan J. Boukens, Stéphane Bezieau, Éric Charpentier, Stéphanie Chatel, Aurore Després, F Gros, Florence Kyndt, Simon Lecointe, Pierre Lindenbaum, Vincent Portero, Jade Violleau, Manfred Gessler, Hanno L. Tan, Dan M. Roden, Vincent M. Christoffels, Hervé Le Marec, Arthur A.M. Wilde, Vincent Probst, Jean‐Jacques Schott, Christian Dina, Richard Redon - Nature Genetics 2013 cited by 546
- Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation
Authors: Joshua C. Bis, Xueqiu Jian, Brian W. Kunkle, Yuning Chen, Kara L. Hamilton‐Nelson, William S. Bush, William Salerno, Daniel Lancour, Yiyi Ma, Alan E. Renton, Edoardo Marcora, John Farrell, Yi Zhao, Liming Qu, Shahzad Ahmad, Najaf Amin, Philippe Amouyel, Gary W. Beecham, Jennifer E. Below, Dominique Campion, Laura Cantwell, Camille Charbonnier, Jaeyoon Chung, Paul K. Crane, Carlos Cruchaga, L. Adrienne Cupples, Jean‐François Dartigues, Stéphanie Debette, Jean‐François Deleuze, Lucinda A. Fulton, Stacey Gabriel, Emmanuelle Génin, Richard A. Gibbs, Alison Goate, Benjamin Grenier‐Boley, Namrata Gupta, Jonathan L. Haines, Aki S. Havulinna, Seppo Helisalmi, Mikko Hiltunen, Daniel P. Howrigan, M. Arfan Ikram, Jaakko Kaprio, Jan Konrad, Amanda Kuzma, Eric S. Lander, Mark Lathrop, Terho Lehtimäki, Honghuang Lin, Kari Mattila, Richard Mayeux, Donna M. Muzny, Waleed Nasser, Benjamin M. Neale, Kwangsik Nho, Gaël Nicolas, Devanshi Patel, Margaret A. Pericak‐Vance, Markus Perola, Bruce M. Psaty, Olivier Quenez, Farid Rajabli, Richard Redon, Christiane Reitz, Anne M. Remes, Veikko Salomaa, Chloé Sarnowski, Helena Schmidt, Michael A. Schmidt, Reinhold Schmidt, Hilkka Soininen, Timothy Thornton, Giuseppe Tosto, Christophe Tzourio, Sven J. van der Lee, Cornelia M. van Duijn, Otto Valladares, Badri N. Vardarajan, Li-San Wang, Weixin Wang, Ellen M. Wijsman, Richard K. Wilson, Daniela Witten, Kim C. Worley, Xiaoling Zhang, Alzheimer’s Disease Sequencing Project, Céline Bellenguez, Jean‐Charles Lambert, Mitja I. Kurki, Aarno Palotie, Mark J. Daly, Eric Boerwinkle, Kathryn L. Lunetta, Anita L. DeStefano, Josée Dupuis, Eden R. Martin, Gerard D. Schellenberg, Sudha Seshadri, Adam C. Naj, Myriam Fornage and 1 more - Molecular Psychiatry 2018 cited by 266
- Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Authors: Elaine Green, Liz Forty, Ian Jones, Michael O‘Donovan, Michael J. Owen, Detelina Grozeva, George Kirov, Liz Forty, Nick Craddock, Ellie Russell, Matthew E. Hurles, Panos Deloukas, Richard Redon, Chris Tyler‐Smith, Kathy Stirrups, Hazel Arbury, C. Barnes, Armand Valsesia, Willem H. Ouwehand, Matthew E. Hurles, Eleanor Howard, Andrew Dunham, Anthony Attwood, Michael L. Mimmack, Dominic Kwiatkowski, Nigel P. Carter, Jan Aerts, Michael A. Quail, Sanjeev S. Bhaskar, Kevin Lewis, Naomi Hammond, Elilan Somaskantharajah, Donald F. Conrad, T. Daniel Andrews, Ifejinelo Onyiah, Chris M. Clee, Husam Hebaishi, Jeffrey C. Barrett, Cordelia F. Langford, John H. Burton, Samuel C. Robson, Sarah Hunt, Rhian Gwilliam, Emma Gray, Kirsten McLay, Carol Scott, Aarno Palotie, Kimmo Palin, Alison J. Coffey, Michael R. Stratton, Inês Barroso, Sarah Edkins, Tomas Fitzgerald, Christopher Yau, Zhan Su, Gil McVean, Niall J. Cardin, Christopher Holmes, Eleni Giannoulatou, Jonathan Marchini, Adam Auton, Simon Myers, Peter Donnelly, Julian Maller, Inga Prokopenko, Jake Byrnes, Richard D. Pearson, Andrew P. Morris, Mahim Jain, Adrian V. S. Hill, Dominic Kwiatkowski, Jake Byrnes, Neil Robertson, Damjan Vukcevic, Mark I. McCarthy, Vincent Plagnol, Oliver S. Burren, Mark I. McCarthy, Vincent Plagnol, Nigel Ovington, Meeta Maisuria-Armer, Joanna M. M. Howson, Jason D. Cooper, Oliver S. Burren, Debbie J. Smyth, Kate Downes, Matthew Woodburn, Neil Walker, John A. Todd, Helen E. Stevens, Chris Wallace, Matt Hardy, Helen Schuilenburg, J. Thompson, Louise V. Wain, Paul R. Burton, Martin D. Tobin, Tariq Ahmad, Nicholas A. Watkins, Jennifer D. Jolley and 117 more - Nature 2010 cited by 818
- Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
Authors: Barbara E. Stranger, Matthew S. Forrest, Mark Dunning, Catherine Ingle, Claude Beazley, Natalie Thorne, Richard Redon, Christine Bird, Anna Grassi, Charles Lee, Chris Tyler‐Smith, Nigel Carter, Stephen W. Scherer, Simon Tavaré, Panagiotis Deloukas, Matthew E. Hurles, Emmanouil T. Dermitzakis - Science 2007 cited by 1,790
- De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Authors: Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Meghan C. Towne, Megan T. Cho, Trine Prescott, Melissa A. Ploeg, Stephan Sanders, Holly A.F. Stessman, Aurora Pujol, Ben Distel, Laurie Robak, Jonathan A. Bernstein, Anne‐Sophie Denommé‐Pichon, Gaëtan Lesca, Elizabeth A. Sellars, Jonathan Berg, Wilfrid Carré, Øyvind L. Busk, Bregje W.M. van Bon, Jeff L. Waugh, Matthew A. Deardorff, George Hoganson, Katherine B. Bosanko, Diana Johnson, Tabib Dabir, Øystein L. Holla, Ajoy Sarkar, Kristian Tveten, Julitta de Bellescize, Geir J. Braathen, Paulien A. Terhal, Dorothy K. Grange, Arie van Haeringen, Christina Lam, Ghayda Mirzaa, Jennifer Burton, Elizabeth Bhoj, Jessica Douglas, Avni Santani, Addie I. Nesbitt, Katherine L. Helbig, Marisa V. Andrews, Amber Begtrup, Sha Tang, Koen L.I. van Gassen, Jane Juusola, Kimberly Foss, Gregory M. Enns, Ute Moog, Katrin Hinderhofer, Nagarajan Paramasivam, Sharyn A. Lincoln, Brandon H. Kusako, Pierre Lindenbaum, Éric Charpentier, C. Nowak, Elouan Chérot, Thomas Simonet, Claudia Ruivenkamp, Sihoun Hahn, Donna M. Brown, Fan Xia, Sébastien Schmitt, Wallid Deb, Dominique Bonneau, Mathilde Nizon, Delphine Quinquis, Jamel Chelly, Gabrielle Rudolf, Damien Sanlaville, Philippe Parent, Brigitte Gilbert‐Dussardier, Annick Toutain, V. Reid Sutton, Jenny Thies, Lisenka E.L.M. Peart-Vissers, Pierre Boisseau, Marie Vincent, Andreas M. Grabrucker, Christèle Dubourg, Wen‐Hann Tan, Nienke E. Verbeek, Martin Granzow, Gijs W.E. Santen, Jay Shendure, Bertrand Isidor, Laurent Pasquier, Richard Redon, Yaping Yang, Matthew W. State, Tjitske Kleefstra, Benjamin Cogné, Slavé Petrovski, Kyle Retterer, Evan E. Eichler, Jill A. Rosenfeld, Pankaj B. Agrawal and 4 more - The American Journal of Human Genetics 2017 cited by 201
- Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
Authors: 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 cited by 170
- SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease
Authors: 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 cited by 134
- SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families
Authors: Yanushi D. Wijeyeratne, Michael W.T. Tanck, Yuka Mizusawa, Velislav N. Batchvarov, Julien Barc, Lia Crotti, J. Martijn Bos, David J. Tester, Alison Muir, Christian Veltmann, Seiko Ohno, Stephen P Page, Joseph Galvin, Rafik Tadros, Martina Muggenthaler, Hariharan Raju, Isabelle Denjoy, Jean‐Jacques Schott, Jean‐Baptiste Gourraud, Doris Škorić‐Milosavljević, Eline A. Nannenberg, Richard Redon, Michael Papadakis, Florence Kyndt, Federica Dagradi, Silvia Castelletti, Margherita Torchio, Thomas Meitinger, Peter Lichtner, Taisuke Ishikawa, Arthur A.M. Wilde, Kazuhiro Takahashi, Sanjay Sharma, Dan M. Roden, Martin Borggrefe, Pascal McKeown, Wataru Shimizu, Minoru Horie, Naomasa Makita, Takeshi Aiba, Michael J. Ackerman, Peter J. Schwartz, Vincent Probst, Connie R. Bezzina, Elijah R. Behr - Circulation Genomic and Precision Medicine 2020 cited by 64
- De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Authors: Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir Naeem Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, William J. Craigen, Stephan Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Éric Bieth, Laurence Perrin‐Sabourin, Marie‐Line Jacquemont, Megan T. Cho, Elizabeth Roeder, Anne‐Sophie Denommé‐Pichon, Kristin G. Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert‐Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A. Shaw, Ankita Patel, Janice Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly Nugent, James B. Gibson, Benjamin Cogné, James R. Lupski, Holly A.F. Stessman, Evan E. Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A. Rosenfeld, Peter‐Michael Kloetzel, Christelle Golzio, Stéphane Bezieau, Paweł Stankiewicz, Bertrand Isidor - The American Journal of Human Genetics 2017 cited by 110
- Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
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