Jeanne Amiel
Active 1963–2025
- 146
- Papers
- 23,445
- Citations
- 89
- h-index
- 140
- i10-index
Citations
Citation sources
Countries
Institutions
Fields
- Biochemistry, Genetics and Molecular Biology54.6%
- Medicine31.3%
- Neuroscience7.7%
- Immunology and Microbiology3.9%
- Nursing0.8%
- Agricultural and Biological Sciences0.4%
- Other1.3%
Topics
- RNA Research and Splicing3.6%
- Genetics and Neurodevelopmental Disorders3.2%
- Nuclear Structure and Function3%
- Genomic variations and chromosomal abnormalities2.4%
- Congenital gastrointestinal and neural anomalies2.2%
- Genomics and Rare Diseases2%
- Other83.6%
Coauthors
- Stanislas Lyonnet63
- Arnold Münnich44
- Tania Attié‐Bitach27
- Valérie Cormier‐Daire20
- Anna Pelet19
- Christopher T. Gordon17
- Loïc de Pontual14
- Laurence Faivre13
- Michel Vekemans13
- Marlène Rio12
- Nathalie Boddaert12
- Rémi Salomon10
- Alice Goldenberg9
- Delphine Héron9
- Delphine Trochet9
- G Mathé9
- L Schwarzenberg9
- M. Schneider9
- Robert M.W. Hofstra9
- Bertrand Isidor8
- Didier Lacombe8
- Laurence Colleaux8
- Martine Le Merrer8
- A Cattan7
All papers
- Lamin A Truncation in Hutchinson-Gilford Progeria
Authors: 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 cited by 1,474
- Targeted therapy in patients with PIK3CA-related overgrowth syndrome
Authors: 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 cited by 587
- NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation
Authors: Xavier Lahaye, Matteo Gentili, Aymeric Silvin, Cécile Conrad, Léa Picard, Mabel Jouve, Elina Zueva, Mathieu Maurin, Francesca Nadalin, Gavin J. Knott, Baoyu Zhao, Fenglei Du, Marlène Rio, Jeanne Amiel, Archa H. Fox, Pingwei Li, Lucie Etienne, Charles S. Bond, Laurence Colleaux, Nicolas Manel - Cell 2018 cited by 233
- Hirschsprung disease, associated syndromes and genetics: a review
Authors: 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 cited by 1,204
- Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma
Authors: 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 cited by 898
- Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
Authors: 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 cited by 860
- Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
Authors: Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gušić, Annabelle Chaussenot, Sylvie Bannwarth, Bérengère François, Emmanuelle C. Genin, Konstantina Fragaki, Catharina L.M. Volker-Touw, Christelle Vasnier, Valérie Serre, Koen L.I. van Gassen, Françoise Lespinasse, Susan Richter, Graeme Eisenhofer, Cécile Rouzier, Fanny Mochel, Anne de Saint Martin, Marie‐Thérèse Abi Wardé, Monique G.M. de Sain-van der Velde, Judith Jans, Jeanne Amiel, Žiga Avsec, Christian Mertes, Tobias B. Haack, Tim M. Strom, Thomas Meitinger, Penelope E. Bonnen, Robert W. Taylor, Julien Gagneur, Peter M. van Hasselt, Agnès Rötig, Agnès Delahodde, Holger Prokisch, Sabine A. Fuchs, Véronique Paquis‐Flucklinger - The American Journal of Human Genetics 2016 cited by 93
- Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
Authors: 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 cited by 436
- Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome
Authors: Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, Astrid Oudakker, Willy M. Nillesen, Alex Magee, David Geneviève, Valérie Cormier‐Daire, Hilde Van Esch, Jean‐Pierre Fryns, Ben C.J. Hamel, Erik A. Sistermans, Bert B.A. de Vries, Hans van Bokhoven - The American Journal of Human Genetics 2006 cited by 396
- A human mutation in Phox2b causes lack of CO 2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons
Authors: Véronique Dubreuil, Nélina Ramanantsoa, Delphine Trochet, V. Vaubourg, Jeanne Amiel, Jorge Gallego, Jean‐François Brunet, Christo Goridis - National Academy of Sciences, Proceedings of the National Academy of Sciences 2008 cited by 311
- Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Authors: Daniel O Dodd, Sabrina Méchaussier, Patricia L. Yeyati, Fraser McPhie, Jacob R. Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A. Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R. Fassad, David Parry, Peter A. Tennant, Alison Meynert, Gabrielle Wheway, Lucas Fares‐Taie, Holly A. Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A. Mohamed, Stuart Aitken, Philippe Gautier, Finn R. Reinholt, Robert A. Hirst, Chris O’Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer Wambach, Daniel J. Wegner, Anne B. Fulton, Margaret A. Kenna, Margaret Rosenfeld, Ingrid A. Holm, Alan J. Quigley, Emma A. Hall, Laura C. Murphy, Diane Cassidy, Alex von Kriegsheim, Diane M. Cassidy, Alex von Kriegsheim, Jean‐François Papon, Laurent Pasquier, Marlène Murris, James D. Chalmers, Claire Hogg, Kenneth Macleod, Don S. Urquhart, Stefan Unger, Timothy J. Aitman, Serge Amselem, Margaret W. Leigh, Michael R. Knowles, Heymut Omran, Hannah M. Mitchison, Alan Brown, Joseph A. Marsh, Julie P. I. Welburn, Shih-Chieh Ti, Amjad Horani, Jean‐Michel Rozet, Isabelle Perrault, Pleasantine Mill, Isabelle Perrault, Pleasantine Mill - Science 2024 cited by 45
- INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
Authors: Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Poojitha Sitaram, Laura A. Lee, Raja Fathalla, Baeth Al‐Rawashdeh, Osama H. Ababneh, Mohammad El-Khateeb, Nathalie Escande‐Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, Sudipto Roy, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner - Nature Communications 2022 cited by 35
- Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma
Authors: 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 cited by 349
- Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
Authors: 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 cited by 307
- De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Authors: 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 cited by 135
- Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Authors: Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong‐Hee Chae, Murim Choi, Karine Siquier-Pernet, Vincent Cantagrel, Jeanne Amiel, Elliot Stolerman, Sarah Barnett, Margot A. Cousin, Diana Castro, Kimberly S. McDonald, Brian Kirmse, Andrea H. Németh, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle C. Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, I. Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja Kristine Selmer, Roser Urreizti, A. García Oguiza, A. Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah McCurry, John E. Landers, Sameer Agnihotri, Elena Corina Andriescu, Shade Moody, Chanika Phornphutkul, María J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik‐Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey - Nature Communications 2021 cited by 52
- PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
Authors: Christel Thauvin‐Robinet, Martine Auclair, Laurence Duplomb, Martine Caron-Debarle, Magali Avila, Judith St‐Onge, Martine Le Merrer, Bernard Le Luyer, Delphine Héron, Michèle Mathieu‐Dramard, Pierre Bitoun, Jean‐Michel Petit, Sylvie Odent, Jeanne Amiel, Damien Picot, Virginie Carmignac, Julien Thévenon, Patrick Callier, Martine Laville, Yves Reznik, C. Fagour, Marie‐Laure Nunes, Jacqueline Capeau, Olivier Lascols, Frédéric Huet, Laurence Bonhomme‐Faivre, Corinne Vigouroux, Jean-Baptiste Rivière - The American Journal of Human Genetics 2013 cited by 204
- Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
Authors: Florence Petit, Fabienne Escande, A.‐S. Jourdain, Nicole Porchet, Jeanne Amiel, Bérénice Doray, Marie‐Ange Delrue, Elisabeth Flori, Chong Ae Kim, Sandrine Marlin, Stephen P. Robertson, Sylvie Manouvrier‐Hanu, Muriel Holder‐Espinasse - Clinical Genetics 2013 cited by 76
- Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4
Authors: Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina, Nathalie Collot, Viviane Baral, Sandrine Marlin, Tania Attié‐Bitach, Irina Giurgea, Laurent Skopinski, William Reardon, Annick Toutain, Pierre Sarda, Echaieb Anis, Marilyn Lackmy-Port-Lis, Renaud Touraine, Jeanne Amiel, Michel Goossens, Véronique Pingault - The American Journal of Human Genetics 2007 cited by 258
- Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
Authors: David A. Koolen, Jamie M. Kramer, Kornelia Neveling, Willy M. Nillesen, Heather Moore-Barton, Frances Elmslie, Annick Toutain, Jeanne Amiel, Valérie Malan, Anne Chun-Hui Tsai, Sau Wai Cheung, Christian Gilissen, Eugène T.P. Verwiel, Sarah Martens, Ton Feuth, Ernie M.H.F. Bongers, Petra de Vries, Hans Scheffer, Lisenka E.L.M. Vissers, Arjan P.M. de Brouwer, Han G. Brunner, Joris A. Veltman, Annette Schenck, Helger G. Yntema, Bert B.A. de Vries - Nature Genetics 2012 cited by 241
- Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
Authors: Alexander G. Marneros, Anita E. Beck, Emily H. Turner, Margaret J. McMillin, Matthew Edwards, Michael Field, Nara Lygia de Macena Sobreira, Ana Beatriz Alvarez Pérez, José Augusto Ribas Fortes, Anne Katrin Lampe, Maria Luisa Giovannucci Uzielli, Christopher T. Gordon, Ghislaine Plessis, Martine Le Merrer, Jeanne Amiel, Ernst Reichenberger, Kathryn M. Shively, Felecia Cerrato, Brian I. Labow, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad - The American Journal of Human Genetics 2013 cited by 90
- ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
Authors: Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau‐Them, Nolwenn Jean‐Marçais, Susan M. Hiatt, Gregory M. Cooper, Tatiana Tvrdik, Alison M. Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin‐Robinet, Xia Wang, Magalie S. Leduc, Meredith Phillips, Heather P. Crawford, Mary K. Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold, Christina Hung, David Viskochil, Sarah Dugan, Pınar Bayrak‐Toydemir, Géraldine Joly‐Hélas, Anne‐Marie Guerrot, Caroline Schluth‐Bolard, Marlène Rio, Ingrid M. Wentzensen, Kirsty McWalter, Rhonda E. Schnur, Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafał Płoski, Carlos A. Bacino, Heather C. Mefford, Laurence Faivre, Olaf A. Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram - The American Journal of Human Genetics 2019 cited by 68
- Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
Authors: Ange‐Line Bruel, Sophie Nambot, Virginie Quéré, Antonio Vitobello, Julien Thévenon, Mirna Assoum, Sébastien Moutton, Nada Houcinat, Daphné Lehalle, Nolwenn Jean‐Marçais, Orphanomix Physician’s Group, Alain Verloès, Alexandra Karsenti, Alice Goldenberg, Aurélia Jacquette, Béatrice Jouret, Béatrice Laudier, Christine Coubes, Christine Francannet, Daphné Lehalle, David Geneviève, Delphine Heron, Didier Lacombe, Elise Schaefer, Elodie Lacaze, Emmanuel Jacquemin, Fabienne Prieur, Fanny Laffarge, Florence Petit, François Feillet, Gilles Morin, Gwenaëlle Diene, James Lespinasse, Jeanne Amiel, Judith Melki, Laëtitia Lambert, Laurence Perrin, Lucile Pinson, Marie-Line Jacquemont, Marie-Pierre Cordier-Alex, Marine Lebrun, Marion Gérard-Blanluet, Marjolaine Willems, Massimiliano Rossi, Nicolas Chassaing, Nicole Philip, Renaud Touraine, Salima El-Chehadeh, Séverine Audebert-Bellanger, Sophie Blesson, Yline Capri, Martin Chevarin, Thibaud Jouan, Charlotte Pöe, Patrick Callier, Emilie Tisserand, Christophe Philippe, Frédéric Tran Mau‐Them, Yannis Duffourd, Laurence Faivre, Christel Thauvin‐Robinet - European Journal of Human Genetics 2019 cited by 62
- Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates
Authors: Emmanuelle Szenker‐Ravi, Tim Ott, Muznah Khatoo, Anne Moreau de Bellaing, Wei Xuan Goh, Yan Ling Chong, Anja Beckers, Darshini Kannesan, G. Louvel, Priyanka Anujan, Vydianathan Ravi, Carine Bonnard, Sébastien Moutton, Patric Schoen, Mélanie Fradin, Estelle Colin, André Mégarbané, Linda Daou, Ghassan Chéhab, Sylvie Di Filippo, Caroline Rooryck, Jean‐François Deleuze, Anne Boland, Nicolas Arribard, Rukiye Eker Ömeroğlu, Sumanty Tohari, Alvin Yu Jin Ng, Marlène Rio, Chun Teck Lim, Birgit Eisenhaber, Frank Eisenhaber, Byrappa Venkatesh, Jeanne Amiel, Hugues Roest Crollius, Christopher T. Gordon, Achim Gossler, Sudipto Roy, Tania Attié‐Bitach, Martin Blum, Patrice Bouvagnet, Bruno Reversade - Nature Genetics 2021 cited by 43
