Laurence Faivre
2000–2025 年に発表
- 別表記
- Laurence, Faivre
- 255
- 論文数
- 26,924
- 被引用数
- 91
- h 指数
- 237
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology62.4%
- Medicine27.1%
- Neuroscience5.4%
- Immunology and Microbiology3.3%
- Computer Science0.3%
- Agricultural and Biological Sciences0.3%
- その他1.2%
トピック
- Genomics and Rare Diseases4.5%
- BRCA gene mutations in cancer4%
- Genetics and Neurodevelopmental Disorders3.6%
- Genomic variations and chromosomal abnormalities3.1%
- Connective tissue disorders research2.6%
- Congenital heart defects research1.7%
- その他80.5%
共著者
- Christel Thauvin‐Robinet52
- Antonio Vitobello42
- Yannis Duffourd41
- Frédéric Tran Mau‐Them36
- Ange‐Line Bruel35
- Julien Thévenon30
- Bertrand Isidor28
- Anne‐Sophie Denommé‐Pichon24
- Arthur Sorlin24
- Patrick Callier24
- Christophe Philippe22
- Paul Kuentz22
- Sylvie Odent22
- Sophie Nambot20
- Valérie Cormier‐Daire20
- Guillaume Jondeau19
- Sébastien Moutton19
- P. Vabres18
- Alice Goldenberg17
- David Geneviève17
- Didier Lacombe17
- Benjamin Cogné16
- Jean‐Baptiste Rivière16
- Arnold Münnich15
全論文
- Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
著者: Karoline Kuchenbaecker, John L. Hopper, Daniel R. Barnes, Kelly‐Anne Phillips, Thea M. Mooij, Marie-José Roos-Blom, Sarah Jervis, Flora E. van Leeuwen, Roger L. Milne, Nadine Andrieu, David E. Goldgar, Mary Beth Terry, Matti A. Rookus, Douglas F. Easton, Antonis C. Antoniou, Lesley McGuffog, D. Gareth Evans, Daniel Barrowdale, Debra Frost, Julian Adlard, Kai-Ren Ong, Louise Izatt, Marc Tischkowitz, Rosalind A. Eeles, Rosemarie Davidson, Shirley Hodgson, Steve Ellis, Catherine Noguès, Christine Lasset, Dominique Stoppa‐Lyonnet, Jean‐Pierre Fricker, Laurence Faivre, Pascaline Berthet, Maartje J. Hooning, Lizet E. van der Kolk, Carolien M. Kets, Muriel A. Adank, Esther M. John, Wendy K. Chung, Irene L. Andrulis, Melissa C. Southey, Mary B. Daly, Saundra S. Buys, Ana Osório, Christoph Engel, Karin Kast, Rita K. Schmutzler, Trinidad Caldés, Anna Jakubowska, Jacques Simard, Michael Friedländer, Sue‐Anne McLachlan, Eva Macháčková, Lenka Foretová, Yen Y. Tan, Christian F. Singer, Edith Oláh, Anne‐Marie Gerdes, Brita Arver, Håkan Olsson - JAMA 2017 被引用: 2,863
- Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
著者: Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, Mouna Barat‐Houari, Nathalie Ruiz-Pallares, Jean‐Christophe Andrau, Didier Lacombe, Julien Van‐Gils, Patricia Fergelot, Christèle Dubourg, Valérie Cormier‐Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Véber, Gaël Nicolas, Gaëtan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin‐Robinet, Frédéric Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel M. A. M. Mannens, Peter Henneman, Raoul C. Hennekam, Guillaume Velasco, Claire Francastel, Damien Ulveling, Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M. Campeau, Justine Rousseau, Michael A. Levy, Lauren Brick, Mariya Kozenko, Tuğçe B. Balcı, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole de Leeuw, Michael Field, Marie Shaw, Jozef Gécz, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Michael J. Friez, Matthew L. Tedder, Jennifer A. Lee, Barbara R. DuPont, Roger E. Stevenson, Steven A. Skinner, Charles E. Schwartz, David Geneviève, Bekim Sadiković - The American Journal of Human Genetics 2020 被引用: 334
- The revised Ghent nosology for the Marfan syndrome: Table 1
著者: Bart Loeys, Harry C. Dietz, Alan C. Braverman, Bert Callewaert, Julie De Backer, Richard B. Devereux, Yvonne Hilhorst‐Hofstee, Guillaume Jondeau, Laurence Faivre, Dianna M. Milewicz, Reed E. Pyeritz, Paul D. Sponseller, B P Wordsworth, Anne M. De Paepe - Journal of Medical Genetics 2010 被引用: 2,214
- Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
著者: Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson, Gabriella Forte, Beverley Anderson, Giada Ariaudo, Brigitte Bader‐Meunier, Eileen Baildam, Roberta Battini, Michael W. Beresford, Manuela Casarano, Mondher Chouchane, Rolando Cimaz, Abigail E. Collins, Nuno Cordeiro, Russell C. Dale, Joyce Davidson, Liesbeth De Waele, Isabelle Desguerre, Laurence Faivre, Elisa Fazzi, Bertrand Isidor, Lieven Lagae, Andrew Latchman, Pierre Lebon, Chumei Li, John H. Livingston, Charles Marques Lourenço, Maria Margherita Mancardi, Alice Masurel‐Paulet, Iain B. McInnes, Manoj P. Menezes, Cyril Mignot, James O’Sullivan, Simona Orcesi, Paolo Picco, Enrica Riva, Robert A. Robinson, Diana Rodriguez, E. Salvatici, Christiaan Scott, Marta Szybowska, John Tolmie, Adeline Vanderver, Catherine Vanhulle, José Pedro Vieira, Kate Webb, Robyn Whitney, Simon G. Williams, Lynne A. Wolfe, Sameer M. Zuberi, Sun Hur, Yanick J. Crow - Nature Genetics 2014 被引用: 591
- Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
著者: Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M. A. M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković - Human Genetics and Genomics Advances 2021 被引用: 157
- Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
著者: Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, Bethany Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan, Charles J. Sheehan, Fernando C. Alsina, Brieana Fregeau, Kimberly A. Aldinger, Ching Moey, Iryna Lobach, Alexandra Afenjar, Dusica Babovic‐Vuksanovic, Stéphane Bezieau, Patrick R. Blackburn, Jens Bunt, Lydie Bürglen, Philippe M. Campeau, Perrine Charles, Brian Hon‐Yin Chung, Benjamin Cogné, Cynthia J. Curry, Daniela D’Agostino, Nataliya Di Donato, Laurence Faivre, Delphine Héron, A. Micheil Innes, Bertrand Isidor, Boris Keren, Amy Kimball, Eric W. Klee, Paul Kuentz, Sébastien Küry, Dominique Martin‐Coignard, Ghayda Mirzaa, Cyril Mignot, Noriko Miyake, Naomichi Matsumoto, Atsushi Fujita, Caroline Nava, Mathilde Nizon, Diana Rodriguez, Lot Snijders Blok, Christel Thauvin‐Robinet, Julien Thévenon, Marie Vincent, Alban Ziegler, William B. Dobyns, Linda J. Richards, A. James Barkovich, Stephen N. Floor, Debra L. Silver, Elliott H. Sherr - Neuron 2020 被引用: 222
- Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
著者: Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, F Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchâteau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil, Javier Lacunza, Daniela Giachino, Natascia Cerrato, Raphaël P. Martins, Óscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Héctor Barajas-Martínez, Britt Maria Beckmann, Ingrid P.C. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, M. Benjamin Shoemaker, Bas J. Boukens, Doris Škorić‐Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller‐Nurasyid, KORA-Study Group, Konstantin Strauch, Annette Peters, Holger Schulz, Lars Schwettmann, Reiner Leidl, Margit Heier, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Éric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bezieau, Barry London, Jacob Tfelt‐Hansen, Dan M. Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G.A. Volders, Maarten P. van den Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean‐Marc Dupuis ほか 57 名 - Nature Genetics 2022 被引用: 142
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
著者: Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A.C. ’t Hoen, Antonio Vitobello, Julia M. Schulze‐Hentrich, Olaf Rieß, Han G. Brunner, Anthony J. Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloès, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris A. Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltrán, Holm Graeßner, T. Haack, Birte Zurek, Kornelia Ellwanger, German Demidov, Marc Sturm, Christoph Keßler, Melanie Wayand, Carlo Wilke, Andreas Traschütz, Lüdger Schöls, Holger Hengel, Peter Heutink, Han G. Brunner, Hans Scheffer, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldız, Tjitske Kleefstra, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Volker Straub, C. Marini Bettolo, Sabine Specht, Jill Clayton‐Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Émilie Tisserant, Ange‐Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltrán, Marta Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvò, Carles García, Marcos Fernandez-Callejo, Carles Hernandéz-Ferrer, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros‐Facer, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem ほか 123 名 - European Journal of Human Genetics 2021 被引用: 103
- Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
著者: Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckevičienė, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S. Fletcher, Florian Cherick, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M. A. M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Delphine Héron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković - Human Mutation 2022 被引用: 80
- The landscape of epilepsy-related GATOR1 variants
著者: Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaëtan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Édouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand‐Sorbets, Georg Dorfmüller, Sanjay M. Sisodiya, Simona Balestrini, Natasha E. Schoeler, Laura Hernández-Hernández, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, C. L. P. Deckers, Bianca Berghuis, Ilse Wegner, E. Niks, Floor E. Jansen, Kees P. J. Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, M. Jacquemont, Caroline Nava, Éric Leguern, Sophie Julia, Antonio Gambardella, G. D’Orsi, Giovanni Crichiutti, Laurence Faivre, Véronique Darmency, Barbora Beňová, Pavel Kršek, Arnaud Biraben, Anne-Sophie Lèbre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R. Nordli, Kristin Lindstrom, Pasquale Striano, Lysa Boissé Lomax, Courtney Kiss, Fabrice Bartoloméi, Anne Lépine, An‐Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard‐Mousnier, Julien Thévenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller‐Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostásy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. Møller, Stéphanie Baulac - Genetics in Medicine 2018 被引用: 239
- Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey
著者: Fatoumata Faye, Claudia Crocione, Roberta Anido de Peña, Simona Bellagambi, Luciana Escati Peñaloza, Amy Hunter, Lene Arnett Jensen, Cor Oosterwijk, Eva Schoeters, Daniel de Vicente, Laurence Faivre, Michael Wilbur, Yann Le Cam, Jessie Dubief - European Journal of Human Genetics 2024 被引用: 110
- Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
著者: Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E.L.M. Vissers, Magnus Nordenskjöld, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gécz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep S. Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celanie K. Christensen, Kerry White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch‐Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, R. Frank Kooy, Marije Meuwissen, Alice Basinger, Mary K. Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond‐Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez‐Rangel, Paul A. Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie M. Vento, Divya Vats, L. Manace Benman, Shane McKee, Ghayda Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen Simon, Koen L.I. van Gassen, Kara Simpson, Robert F. Stratton, Shakir Syed, Julien Thévenon, Irene Valenzuela, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, John Acampado, Andrea J. Ace, Alpha Amatya, Irina Astrovskaya, Asif Bashar ほか 163 名 - Genome Medicine 2021 被引用: 117
- Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
著者: Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Guðmar Þorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B.A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández‐Aranda, José Manuel Fernández‐Real, Mónica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo‐Riitta Järvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. van Haelst, Sergi Villatoro Gomez, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie‐Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoı̂t Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Béri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiésa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean‐Marie Cuisset, J. Cuvellier, Albert David, Bénédicte de Fréminville, Bruno Delobel, Marie‐Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco‐Fenzy, Séverine Drunat, Bénédicte Duban‐Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gérard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna‐Liisa Hartikainen, Delphine Héron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez‐Múrcia, Géraldine Joly Helas ほか 81 名 - Nature 2011 被引用: 480
- BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription
著者: Cristina Dias, Sara B. Estruch, Sarah A. Graham, Jeremy F. McRae, Stephen J. Sawiak, Jane A. Hurst, Shelagh Joss, Susan Holder, Jenny E.V. Morton, Claire Turner, Julien Thévenon, Kelly Mellul, Gabriela Sánchez-Andrade, Ximena Ibarra-Soria, Pelagia Derizioti, Rui F. Santos, Song‐Choon Lee, Laurence Faivre, Tjitske Kleefstra, Pentao Liu, M.E. Hurles, Simon E. Fisher, Darren W. Logan - The American Journal of Human Genetics 2016 被引用: 164
- A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
著者: Corine Bertolotto, Fabienne Lesueur, Sandy Giuliano, Thomas Strub, Mahaut de Lichy, Karine Bille, Philippe Dessen, Benoit d’Hayer, Hamida Mohamdi, Audrey Remenieras, E. Maubec, Arnaud de la Fouchardière, Vincent Molinié, P. Vabres, Stéphane Dalle, Nicolas Poulalhon, Tanguy Martin‐Denavit, L. Thomas, Pascale Andry-Benzaquen, N. Dupin, F. Boitier, Annick Rossi, Jean‐Luc Perrot, B. Labeille, Caroline Robert, Bernard Escudier, Olivier Caron, Laurence Brugières, Simon Saule, Betty Gardie, Sophie Gad, Stéphane Richard, Jérôme Couturier, Bin Tean Teh, Paola Ghiorzo, Lorenza Pastorino, Susana Puig, Célia Bádenas, Håkan Olsson, Christian Ingvar, Etienne Rouleau, Rosette Lidereau, Philippe Bahadoran, Philippe Vielh, Eve Corda, Hélène Blanché, Diana Zélénika, Pilar Galán, The French Familial Melanoma Study Group, F. Aubin, Bertrand Bachollet, Céline Becuwe, Pascaline Berthet, Yves Jean Bignon, Valérie Bonadona, Jean‐Louis Bonafé, Marie‐Noëlle Bonnet‐Dupeyron, F. Cambazard, J. Chevrant‐Breton, Isabelle Coupier, S. Dalac, Liliane Demange, M. D’Incan, Catherine Dugast, Laurence Faivre, Lynda Vincent-Fétita, Marion Gauthier-Villars, Brigitte Gilbert, Florent Grange, Jean‐Jacques Grob, Philippe Humbert, Nicolas Janin, Pascal Joly, Delphine Kérob, Christine Lasset, Dominique Leroux, J. Levang, Jean‐Marc Limacher, C. Bulaï Livideanu, Michel Longy, Alain Lortholary, Dominique Stoppa-Lyonnet, Sandrine Mansard, L Mansuy, Karine Marrou, Christine Matéus, Christine Maugard, Nicolás Meyer, Catherine Noguès, P Souteyrand, Laurence Venat‐Bouvet, Hélène Zattara, Valérie Chaudru, Gilbert Lenoir, Mark Lathrop, Irwin Davidson, Marie-Françoise Avril, Florence Démenais, Robert Ballotti, Brigitte Bressac–de Paillerets - Nature 2011 被引用: 522
- Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
著者: Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Männik, Arjun Krishnan, M. Elizabeth McCready, Olivier Pichon, Cédric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Currò, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin‐Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bućan, Susan Zeesman, Małgorzata J.M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Perrine Charles, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles E. Schwartz, Corrado Romano, Erik A. Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan - Genetics in Medicine 2018 被引用: 221
- MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone
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