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

Laurence Faivre の年別被引用数2002 年: 被引用 6 件2003 年: 被引用 11 件2004 年: 被引用 21 件2005 年: 被引用 28 件2006 年: 被引用 40 件2007 年: 被引用 51 件2008 年: 被引用 56 件2009 年: 被引用 85 件2010 年: 被引用 124 件2011 年: 被引用 150 件2012 年: 被引用 137 件2013 年: 被引用 156 件2014 年: 被引用 176 件2015 年: 被引用 210 件2016 年: 被引用 186 件2017 年: 被引用 225 件2018 年: 被引用 212 件2019 年: 被引用 867 件2020 年: 被引用 999 件2021 年: 被引用 1,071 件2022 年: 被引用 879 件2023 年: 被引用 616 件2024 年: 被引用 1,144 件2025 年: 被引用 433 件2026 年: 被引用 10 件

引用元

国・地域

この著者を引用した国・地域の世界地図アメリカ合衆国: 引用元論文 3,159 件、この内訳の 21.1%イギリス: 引用元論文 1,240 件、この内訳の 8.3%フランス: 引用元論文 969 件、この内訳の 6.5%ドイツ: 引用元論文 871 件、この内訳の 5.8%イタリア: 引用元論文 777 件、この内訳の 5.2%カナダ: 引用元論文 731 件、この内訳の 4.9%中国: 引用元論文 681 件、この内訳の 4.6%オランダ: 引用元論文 658 件、この内訳の 4.4%オーストラリア: 引用元論文 541 件、この内訳の 3.6%スペイン: 引用元論文 449 件、この内訳の 3%ベルギー: 引用元論文 386 件、この内訳の 2.6%日本: 引用元論文 329 件、この内訳の 2.2%
0%21.1%その他 27.8%

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

全論文

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  1. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  2. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  3. The revised Ghent nosology for the Marfan syndrome: Table 1

    著者: , , , , , , , , , , , , , - Journal of Medical Genetics 2010 被引用: 2,214

  4. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  5. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  6. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  7. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  8. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  9. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  10. The landscape of epilepsy-related GATOR1 variants

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  11. 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: , , , , , , , , , , , , , - European Journal of Human Genetics 2024 被引用: 110

  12. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  13. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  14. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

    著者: , , , , , , , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2016 被引用: 164

  15. A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  16. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  17. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

    著者: , , , , , , , , , , , , , , , , , - PLoS Biology 2016 被引用: 136

  18. Mutation spectrum and splicing variants in the OPA1 gene

    著者: , , , , , , , , - Human Genetics 2001 被引用: 380

  19. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Joan Brunet, Saundra S. Buys, Trinidad Caldés, Maria A. Caligo, Ian Campbell, Lise Lotte Christensen, Wendy K. Chung, Kathleen Claes, Chrystelle Colas, Pascaline Berthet, Chrystelle Colas, Marie‐Agnès Collonge‐Rame, Capucine Delnatte, Laurence Faivre, Sophie Giraud, Christine Lasset, Véronique Mari, Noura Mebirouk, Emmanuelle Mouret‐Fourme, Hélène Schuster, Dominique Stoppa‐Lyonnet, Julian Adlard, Munaza Ahmed, Antonis C. Antoniou, Daniel Barrowdale, Paul Brennan, Carole Brewer, Jackie Cook, Rosemarie Davidson, Douglas F. Easton, Rosalind A. Eeles, D. Gareth Evans, Debra Frost, Helen Hanson, Louise Izatt, Kai-Ren Ong, Lucy Side, Aoife O’Shaughnessy-Kirwan, Marc Tischkowitz, Lisa Walker, Marie‐Agnès Collonge‐Rame, Jackie Cook, Mary B. Daly, Rosemarie Davidson, Miguel de la Hoya, Robin De Putter, Capucine Delnatte, Peter Devilee, Orland Dı́ez, Yuan Chun Ding, Susan M. Domchek, Cecilia M. Dorfling, Martine Dumont, Rosalind A. Eeles, Bent Ejlertsen, Christoph Engel, D. Gareth Evans, Laurence Faivre, Lenka Foretová, Florentia Fostira, Michael Friedländer, Eitan Friedman, Debra Frost, Patricia A. Ganz, Judy E. Garber, Andrea Gehrig, Anne‐Marie Gerdes, Paul Gesta, Sophie Giraud, Gord Glendon ほか 139 名 - Genetics in Medicine 2020 被引用: 145

  20. Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Stefan Mundlos - Nature Communications 2022 被引用: 47

  21. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurélien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel G. Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Münnich, James R. Lupski, Christophe Philippe, Christel Thauvin‐Robinet, Laurence Faivre, Bekim Sadiković, Jérôme Govin, Bart Dermaut, Antonio Vitobello - The American Journal of Human Genetics 2023 被引用: 25

  22. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Boris Keren, Aurélia Jacquette, Laurence Faivre, Stéphane Bezieau, Bertrand Isidor, Angelika Rieß, Ute Moog, Sally Ann Lynch, Terri McVeigh, Orly Elpeleg, Marie Falkenberg Smeland, Madeleine Fannemel, Arie van Haeringen, Saskia M. Maas, Hermine E. Veenstra‐Knol, Meyke Schouten, Marjolein H. Willemsen, Carlo Marcelis, Charlotte W. Ockeloen, Ineke van der Burgt, Ilse Feenstra, Jasper van der Smagt, Aleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Domingo González‐Lamuño, Britt‐Marie Anderlid, Helena Malmgren, Magnus Nordenskjöld, Emma Clement, Jane A. Hurst, Kay Metcalfe, Sahar Mansour, Katherine Lachlan, Jill Clayton‐Smith, Laura G. Hendon, Omar Abdul‐Rahman, Eric M. Morrow, Clare McMillan, Jennifer Gerdts, Joseph Peeden, Samantha A. Schrier Vergano, Caitlin Valentino, Wendy K. Chung, Jillian R. Ozmore, Sandra Bedrosian‐Sermone, Anna Dennis, Kayla Treat, Susan Hughes, Nicole P. Safina, Jean‐Baptiste Le Pichon, Marianne McGuire, Elena Infante, Suneeta Madan‐Khetarpal, Sonal Desai, Paul J. Benke, Alyson Krokosky, Ingrid Cristian, Laura Baker, Karen W. Gripp, Holly A.F. Stessman, Jacob A. Eichenberger, Parul Jayakar, Amy Pizzino, Melanie A. Manning, Leah Slattery, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld ほか 3 名 - Biological Psychiatry 2018 被引用: 182

  23. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Pérez de Nanclares, Arrate Pereda, Isabel Llano‐Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin‐Robinet, Laurence Faivre, Aurore Garde, Benoît Mazel, Ange‐Line Bruel, Michael L. Tress, Eva H. Brilstra, Amena Smith Fine, Kylie Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi J.C. Stevens, Joost Nicolai, Gaëtan Lesca, Laurence Lion‐François, Damien Haye, Nicolas Chatron, Amélie Piton, Mathilde Nizon, Benjamin Cogné, Siddharth Srivastava, Jennifer A. Bassetti, Candace Muss, Karen W. Gripp, Rebecca Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andrés Moreno-De-Luca, Shelagh Joss, Mark Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gécz, Mark Corbett - Genetics in Medicine 2022 被引用: 50

  24. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

    著者: , , , , , , , , , , , , , , , , , , , , , , , , - Genetics in Medicine 2017 被引用: 197