Jeanne Amiel

Active 1963–2025

146
Papers
23,445
Citations
89
h-index
140
i10-index

Citations

Citations per year for Jeanne Amiel1965: 2 citations1966: 1 citations1967: 3 citations1968: 4 citations1969: 6 citations1970: 8 citations1971: 9 citations1972: 15 citations1973: 9 citations1974: 12 citations1975: 6 citations1976: 4 citations1977: 3 citations1978: 4 citations1979: 2 citations1980: 4 citations1981: 4 citations1982: 6 citations1983: 3 citations1984: 3 citations1985: 5 citations1986: 5 citations1987: 4 citations1989: 2 citations1990: 5 citations1991: 2 citations1993: 4 citations1994: 2 citations1995: 2 citations1996: 28 citations1997: 31 citations1998: 60 citations1999: 66 citations2000: 100 citations2001: 95 citations2002: 91 citations2003: 119 citations2004: 145 citations2005: 137 citations2006: 121 citations2007: 187 citations2008: 157 citations2009: 188 citations2010: 190 citations2011: 180 citations2012: 197 citations2013: 199 citations2014: 178 citations2015: 182 citations2016: 169 citations2017: 150 citations2018: 179 citations2019: 553 citations2020: 534 citations2021: 607 citations2022: 395 citations2023: 254 citations2024: 437 citations2025: 138 citations2026: 2 citations1988: no citations, so this year is not shown1992: no citations, so this year is not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 2,407 citing papers, 27.4% of this breakdownUnited Kingdom: 730 citing papers, 8.3% of this breakdownFrance: 660 citing papers, 7.5% of this breakdownGermany: 578 citing papers, 6.6% of this breakdownChina: 448 citing papers, 5.1% of this breakdownItaly: 378 citing papers, 4.3% of this breakdownNetherlands: 374 citing papers, 4.2% of this breakdownCanada: 328 citing papers, 3.7% of this breakdownAustralia: 254 citing papers, 2.9% of this breakdownSpain: 245 citing papers, 2.8% of this breakdownJapan: 230 citing papers, 2.6% of this breakdownBelgium: 180 citing papers, 2% of this breakdown
0%27.4%Other 22.6%

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

All papers

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  1. Lamin A Truncation in Hutchinson-Gilford Progeria

    Authors: , , , , , , , , , , - Science 2003 cited by 1,474

  2. Targeted therapy in patients with PIK3CA-related overgrowth syndrome

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Laurent Guibaud, Christine Broissand, Jeanne Amiel, Christophe Legendre, Fabiola Terzi, Guillaume Canaud - Nature 2018 cited by 587

  3. NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation

    Authors: , , , , , , , , , , , , , , , , , , , - Cell 2018 cited by 233

  4. Hirschsprung disease, associated syndromes and genetics: a review

    Authors: , , , , , , , , , , , , , , , , , , , , , , , - Journal of Medical Genetics 2007 cited by 1,204

  5. Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

    Authors: , , , , , , , , , , , , , , , - Nature 2008 cited by 898

  6. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

    Authors: , , , , , , , , , , , , , - Nature Genetics 2003 cited by 860

  7. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  8. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , David Fitzpatrick, Stanislas Lyonnet - Nature Genetics 2009 cited by 436

  9. Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

    Authors: , , , , , , , , , , , , , - The American Journal of Human Genetics 2006 cited by 396

  10. A human mutation in Phox2b causes lack of CO 2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons

    Authors: , , , , , , , - National Academy of Sciences, Proceedings of the National Academy of Sciences 2008 cited by 311

  11. Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  12. INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , - Nature Communications 2022 cited by 35

  13. Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma

    Authors: , , , , , , , , , , , , - The American Journal of Human Genetics 2004 cited by 349

  14. Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

    Authors: , , , , , , , , , , , , , , , , , - Nature Genetics 2011 cited by 307

  15. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  16. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  17. PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2013 cited by 204

  18. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

    Authors: , , , , , , , , , , , , - Clinical Genetics 2013 cited by 76

  19. Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

    Authors: , , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2007 cited by 258

  20. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2012 cited by 241

  21. Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

    Authors: , , , , , , , , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2013 cited by 90

  22. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  23. Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  24. Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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