Stanislas Lyonnet
1989–2025 年に発表
- 173
- 論文数
- 28,899
- 被引用数
- 97
- h 指数
- 168
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology57.1%
- Medicine28.9%
- Neuroscience8.3%
- Immunology and Microbiology3.4%
- Agricultural and Biological Sciences0.6%
- Computer Science0.4%
- その他1.3%
トピック
- Congenital heart defects research3.1%
- RNA Research and Splicing2.8%
- Genetics and Neurodevelopmental Disorders2.8%
- Genomic variations and chromosomal abnormalities2.3%
- Nuclear Structure and Function2.3%
- Congenital gastrointestinal and neural anomalies1.9%
- その他84.8%
共著者
- Arnold Münnich72
- Jeanne Amiel63
- Valérie Cormier‐Daire33
- Tania Attié‐Bitach29
- Anna Pelet26
- Michel Vekemans24
- Laurence Faivre17
- Marlène Rio14
- Loïc de Pontual13
- Rémi Salomon13
- Christopher T. Gordon12
- Martine Le Merrer12
- Didier Lacombe11
- Laurence Colleaux11
- Nathalie Boddaert11
- Damien Sanlaville10
- Patrick Nitschké10
- Robert M.W. Hofstra10
- Christine Bôle‐Feysot9
- Claire Nihoul‐Feketé9
- Geneviève Baujat9
- Patrick Edery9
- Sophie Saunier9
- Annick Toutain8
全論文
- Lamin A Truncation in Hutchinson-Gilford Progeria
著者: Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Pierre Cau, Claire Navarro, Jeanne Amiel, Irène Boccaccio, Stanislas Lyonnet, Colin L. Stewart, Arnold Münnich, Martine Le Merrer, Nicolas Lévy - Science 2003 被引用: 1,474
- Targeted therapy in patients with PIK3CA-related overgrowth syndrome
著者: Quitterie Venot, Thomas Blanc, Smail Hadj Rabia, Laureline Berteloot, Sophia Ladraa, Jean–Paul Duong Van Huyen, Estelle Blanc, Simon C. Johnson, Clément Hoguin, O. Boccara, Sabine Sarnacki, Nathalie Boddaert, Stéphanie Pannier, Frank Martinez, Sato Magassa, Junna Yamaguchi, Bertrand Knebelmann, Pierre Merville, Nicolas Grenier, Dominique Joly, Valérie Cormier‐Daire, Caroline Michot, Christine Bole‐Feysot, Arnaud Picard, V. Soupre, Stanislas Lyonnet, Jérémy Sadoine, Lotfi Slimani, Catherine Chaussain, Cécile Laroche-Raynaud, Laurent Guibaud, Christine Broissand, Jeanne Amiel, Christophe Legendre, Fabiola Terzi, Guillaume Canaud - Nature 2018 被引用: 587
- Diagnosis support systems for rare diseases: a scoping review
著者: Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Bertrand Knebelmann, Rémi Salomon, Stanislas Lyonnet, Sophie Saunier, Anita Burgun - Orphanet Journal of Rare Diseases 2020 被引用: 108
- Nuclear Outsourcing of RNA Interference Components to Human Mitochondria
著者: Simonetta Bandiera, Silvia Rüberg, M Girard, Nicolas Cagnard, Sylvain Hanein, Dominique Chrétien, Arnold Münnich, Stanislas Lyonnet, Alexandra Henrion‐Caude - PLoS ONE 2011 被引用: 301
- Hirschsprung disease, associated syndromes and genetics: a review
著者: Jeanne Amiel, Eileen Sproat-Emison, M.‐M. Garcia‐Barceló, Francesca Lantieri, Grzegorz Burzynski, Salud Borrego, Anna Pelet, Stacey Arnold, Xiaoping Miao, Paola Griseri, A S Brooks, Guillermo Antiñolo, Loïc de Pontual, Mathieu Clément‐Ziza, Arnold Münnich, Carl Kashuk, Kristen M. West, Kenneth KY Wong, Stanislas Lyonnet, Aravinda Chakravarti, Paul KH Tam, Isabella Ceccherini, Robert M.W. Hofstra, Raquel M. Fernández - Journal of Medical Genetics 2007 被引用: 1,204
- Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma
著者: Isabelle Janoueix‐Lerosey, Delphine Lequin, Laurence Brugières, Agnès Ribeiro, Loïc de Pontual, Valérie Combaret, Virginie Raynal, Alain Puisieux, Gudrun Schleiermacher, Gaëlle Pierron, Dominique Valteau‐Couanet, Thierry Frébourg, Jean Michon, Stanislas Lyonnet, Jeanne Amiel, Olivier Delattre - Nature 2008 被引用: 898
- Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
著者: Jeanne Amiel, Béatrice Laudier, Tania Attié‐Bitach, Ha Trang, Loïc de Pontual, Blanca Gener, Delphine Trochet, Heather Etchevers, Pierre F. Ray, Michel Simonneau, Michel Vekemans, Arnold Münnich, Claude Gaultier, Stanislas Lyonnet - Nature Genetics 2003 被引用: 860
- Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease
著者: S. Hadj‐Rabia, Lekbir Baala, P. Vabres, Dominique Hamel‐Teillac, Emmanuel Jacquemin, Monique Fabrè, Stanislas Lyonnet, Y. De Prost, Arnold Münnich, Michelle Hadchouel, Asma Smahi - Gastroenterology 2004 被引用: 413
- Mutation update for the CSB / ERCC6 and CSA / ERCC8 genes involved in Cockayne syndrome
著者: Vincent Laugel, C Dalloz, M. Durand, Florence Sauvanaud, Ulrik Kristensen, M.-C. Vincent, Laurent Pasquier, S. Odent, Valérie Cormier‐Daire, Blanca Gener, Edward S. Tobias, John Tolmie, Dominique Martin‐Coignard, Valérie Drouin‐Garraud, D. Héron, Hubert Journel, Emmanuel Raffo, Jacqueline Vigneron, Stanislas Lyonnet, Victoria Murday, D. Gubser-Mercati, Benoît Funalot, L A Brueton, Jaime Sánchez del Pozo, Esteban Muñoz, AR Gennery, Mustafa A. Salih, Mehrdad Noruzinia, Katrina Prescott, Lina Ramos, Zornitza Stark, Karen Fieggen, B. Chabrol, P. Sardá, Patrick Edery, Agnès Bloch‐Zupan, Heather Fawcett, D Pham, J.M. Egly, Alan R. Lehmann, Alain Sarasin, Hélène Dollfus - Human Mutation 2009 被引用: 228
- Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin
著者: András N. Spaan, Anna‐Lena Neehus, Emmanuel Laplantine, Frederik Staels, Masato Ogishi, Yoann Seeleuthner, Franck Rapaport, Keenan A. Lacey, Erika Van Nieuwenhove, Maya Chrabieh, David Hum, Mélanie Migaud, Araksya Izmiryan, Lazaro Lorenzo, Tatiana Kochetkov, Dani A. C. Heesterbeek, Bart W. Bardoel, Ashley Dumont, Kerry Dobbs, Solenne Chardonnet, Søren Heissel, Timour Baslan, Peng Zhang, Rui Yang, Dusan Bogunovic, Herman F. Wunderink, Pieter‐Jan Haas, Henrik Molina, Griet Van Buggenhout, Stanislas Lyonnet, Luigi D. Notarangelo, Mikko Seppänen, Robert Weil, Gisela Seminario, Héctor Gomez-Tello, Carine Wouters, Mehrnaz Mesdaghi, Mohammad Shahrooei, Xavier Bossuyt, Erdal Sağ, Rezan Topaloğlu, Seza Özen, Helen L. Leavis, Maarten M. J. van Eijk, Liliana Bezrodnik, Lizbeth Blancas‐Galicia, Alain Hovnanian, Aude Nassif, Brigitte Bader‐Meunier, Bénédicte Neven, Isabelle Meyts, Rik Schrijvers, Anne Puel, Jacinta Bustamante, Ivona Aksentijevich, Daniel L. Kastner, Victor J. Torres, Stéphanie Humblet‐Baron, Adrian Liston, Laurent Abel, Bertrand Boisson, Jean‐Laurent Casanova - Science 2022 被引用: 69
- Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome
著者: S. Gerber, Kamil J. Alzayady, Lydie Bürglen, Dominique Brémond‐Gignac, Valentina Marchesin, Olivier Roche, Marlène Rio, Benoît Funalot, Raphaël Calmon, Alexandra Dürr, Vera Lúcia Gil‐da‐Silva‐Lopes, Maria Fernanda Ribeiro Bittar, Christophe Orssaud, Bénédicte Héron, Edward Ayoub, Patrick Berquin, Nadia Bahi‐Buisson, Christine Bole, Cécile Masson, Arnold Münnich, Matias Simons, Marion Delous, Hélène Dollfus, Nathalie Boddaert, Stanislas Lyonnet, Josseline Kaplan, Patrick Calvas, David I. Yule, Jean‐Michel Rozet, Lucas Fares‐Taie - The American Journal of Human Genetics 2016 被引用: 147
- Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
著者: Sabina Benko, Judy Fantes, Jeanne Amiel, Dirk-Jan Kleinjan, Sophie Thomas, Jacqueline Ramsay, Negar Jamshidi, Abdelkader Essafi, Simon J. H. Heaney, Christopher T. Gordon, David J. McBride, Christelle Golzio, Malcolm E Fisher, Paul Perry, Véronique Abadie, Carmen Ayuso, Muriel Holder‐Espinasse, Nicky Kilpatrick, Melissa Lees, Arnaud Picard, I. Karen Temple, Paul Q. Thomas, Marie-Paule Vazquez, Michel Vekemans, Hugues Roest Crollius, Nicholas D. Hastie, Arnold Münnich, Heather Etchevers, Anna Pelet, Peter G. Farlie, David Fitzpatrick, Stanislas Lyonnet - Nature Genetics 2009 被引用: 436
- A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
著者: Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt, Esther Pohl, Yun Li, Esther Milz, Marcel Martin, Holger Thiele, Janine Altmüller, Yasemin Alanay, Hülya Kayserili, Ludger Klein‐Hitpaß, Stefan Böhringer, Andreas Wollstein, Beate Albrecht, Koray Boduroğlu, Almuth Caliebe, Krystyńa Chrzańowska, Özgür Çoğulu, Francesca Cristofoli, Johanna Christina Czeschik, Koenraad Devriendt, Maria Teresa Dotti, Nursel Elçioğlu, Blanca Gener, Timm O. Goecke, Małgorzata Krajewska‐Walasek, Encarna Guillén‐Navarro, Joussef Hayek, Gunnar Houge, Esra KAYA KILIÇ, Pelin Özlem Şimşek‐Kiper, Vanesa López‐González, Alma Kuechler, Stanislas Lyonnet, Francesca Mari, Annabella Marozza, Michèle Mathieu Dramard, Barbara Mikat, G Morin, Fanny Morice‐Picard, Ferda Özkınay, Anita Rauch, Alessandra Renieri, Sigrid Tinschert, Gülen Eda Ütine, Catheline Vilain, Rossella Vivarelli, Christiane Zweier, Peter Nürnberg, Sven Rahmann, Joris Vermeesch, Hermann‐Josef Lüdecke, Michael Zeschnigk, Bernd Wollnik - Human Molecular Genetics 2013 被引用: 228
- FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
著者: Antoine Paul, Anthony Drecourt, Floriane Petit, D. Dupin Deguine, Christelle Vasnier, Myriam Oufadem, Cécile Masson, Crystel Bonnet, Saber Masmoudi, Isabelle Mosnier, L. Mahieu, D. Bouccara, Josseline Kaplan, Georges Challe, C. Domange, Fanny Mochel, Olivier Sterkers, S. Gerber, Patrick Nitschké, Christine Bôle‐Feysot, Laurence Jonard, Souad Gherbi, Oriane Mercati, Ines Aïssa, Stanislas Lyonnet, Agnès Rötig, Agnès Delahodde, Sandrine Marlin - The American Journal of Human Genetics 2017 被引用: 91
- Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
著者: Li Qy, Newbury-Ecob Ra, Terrett Ja, David I. Wilson, Andrew R.J. Curtis, Yi Ch, Tom Gebuhr, Bullen Pj, Robson Sc, Tom Strachan, Damien Bonnet, Stanislas Lyonnet, Young Id, J. A. Raeburn, Buckler Aj, Law Dj, J. David Brook - Nature Genetics 1997 被引用: 929
- miR-122, a paradigm for the role of microRNAs in the liver
著者: M Girard, Emmanuel Jacquemin, Arnold Münnich, Stanislas Lyonnet, Alexandra Henrion‐Caude - Journal of Hepatology 2008 被引用: 376
- Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
著者: Andrew K. Sobering, Laura Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stéphanie Moortgat, John M. Graham, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch‐Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Véronique Pingault, Sandrine Marlin, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Alexander Holt, Oleksandra Petryna, Helen V. Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun‐Hui Tsai, Katherine R. Yearwood, Elysa Marco, C. Nowak, Jessica Douglas, Håkon Håkonarson, Elizabeth Bhoj - Human Genetics and Genomics Advances 2022 被引用: 26
- Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells
著者: Ludovic de Beaucoudrey, Anne Puel, Orchidée Filipe‐Santos, Aurélie Cobat, Pegah Ghandil, Maya Chrabieh, Jacqueline Feinberg, Horst von Bernuth, Arina Samarina, Lucile Jannière, Claire Fieschi, Jean‐Louis Stephan, Cathérine Boileau, Stanislas Lyonnet, Guillaume Jondeau, Valérie Cormier‐Daire, Martine Le Merrer, C. Hoarau, Yvon Lebranchu, Olivier Lortholary, Marie‐Olivia Chandesris, François Tron, Eleonora Gambineri, Lucia Bianchi, Carlos Rodríguez‐Gallego, Simona Eva Zitnik, Julia Vasconcelos, Margarida Guedes, Artur Bonito Vítor, László Maródi, Helen Chapel, Brenda Reid, Chaim M. Roifman, David Nadal, Janine Reichenbach, Isabel Caragol, Ben‐Zion Garty, Figen Doğu, Yıldız Çamcıoğlu, Sanyie Gülle, Özden Sanal, Alain Fischer, Laurent Abel, Brigitta Stockinger, Capucine Pïcard, Jean‐Laurent Casanova - The Journal of Experimental Medicine 2008 被引用: 430
- Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma
著者: Delphine Trochet, Franck Bourdeaut, Isabelle Janoueix‐Lerosey, Anne Deville, Loïc de Pontual, Gudrun Schleiermacher, Carole Coze, Nicole Philip, Thierry Frébourg, Arnold Münnich, Stanislas Lyonnet, Olivier Delattre, Jeanne Amiel - The American Journal of Human Genetics 2004 被引用: 349
- Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
著者: Robert Lyle, Frédérique Béna, Sarantis Gagos, Corinne Gehrig, Gipsy Lopez, Albert Schinzel, James Lespinasse, Armand Bottani, Sophie Dahoun, Laurence Taine, Martine Doco‐Fenzy, Pascale Cornillet‐Lefèbvre, Anna Pelet, Stanislas Lyonnet, Annick Toutain, Laurence Colleaux, Jürgen Horst, Ingo Kennerknecht, Nobuaki Wakamatsu, Maria Descartes, Judy Franklin, L. Florentin-Arar, Sophia Kitsiou, Emilie Ait‐Yahya, Maher Costantine, Pierre‐Marie Sinet, Jean Maurice Delabar, Stylianos E. Antonarakis - European Journal of Human Genetics 2008 被引用: 327
- Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
著者: Loïc de Pontual, Evelyn Yao, Patrick Callier, Laurence Faivre, Valérie Drouin, Sandra Cariou, Arie van Haeringen, David Geneviève, Alice Goldenberg, Myriam Oufadem, Sylvie Manouvrier, Arnold Münnich, Joana A. Vidigal, Michel Vekemans, Stanislas Lyonnet, Alexandra Henrion‐Caude, Andrea Ventura, Jeanne Amiel - Nature Genetics 2011 被引用: 307
- Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6
著者: Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, Soumaya Mougou-Zrelli, Bettina Grattagliano‐Bessières, Maryse Bonnière, Sophie Delahaye, Arnold Munnich, Férechté Encha-Razavi, Stanislas Lyonnet, Michel Vekemans, Tania Attié‐Bitach, Heather Etchevers - The American Journal of Human Genetics 2007 被引用: 200
- De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
著者: Christopher T. Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-ichiro Yoshiura, Myriam Oufadem, Tamara Beck, Ruth McGowan, Alex Magee, Janine Altmüller, Camille Dion, Hölger Thiele, Alexandra D. Gurzau, Peter Nürnberg, Dieter Meschede, W. Mühlbauer, Nobuhiko Okamoto, Vinod Varghese, Rachel Irving, Sabine Sigaudy, Denise Williams, S. Faisal Ahmed, Carine Bonnard, Mung Kei Kong, Ilham Ratbi, Nawfal Fejjal, Meriem Fikri, Siham Chafai Elalaoui, Hallvard Reigstad, Christine Bôle‐Feysot, Patrick Nitschké, Nicola Ragge, Nicolas Lévy, Gökhan Tunçbi̇lek, Audrey S.M. Teo, Michael L. Cunningham, Abdelaziz Sefiani, Hülya Kayserili, James M. Murphy, Chalermpong Chatdokmaiprai, Axel M. Hillmer, Duangrurdee Wattanasirichaigoon, Stanislas Lyonnet, Frédérique Magdinier, Asif Javed, Marnie E. Blewitt, Jeanne Amiel, Bernd Wollnik, Bruno Reversade - Nature Genetics 2017 被引用: 135
- RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
著者: Nina Bögershausen, I-Chun Tsai, Esther Pohl, Pelin Özlem Şimşek‐Kiper, Filippo Beleggia, E. Ferda Perçin, Katharina Keupp, Angela Matchan, Esther Milz, Yasemin Alanay, Hülya Kayserili, Yicheng Liu, Siddharth Banka, Andrea Kranz, Martin Zenker, Dagmar Wieczorek, Nursel Elçioğlu, Paolo Prontera, Stanislas Lyonnet, Thomas Meitinger, Aengus Stewart, Dian Donnai, Tim M. Strom, Koray Boduroğlu, Gökhan Yigit, Yun Li, Nicholas Katsanis, Bernd Wollnik - Journal of Clinical Investigation 2015 被引用: 86
