Didier Lacombe

1992–2025 年に発表

別表記
Didier, Lacombe
145
論文数
18,310
被引用数
85
h 指数
141
i10 指数

被引用数

Didier Lacombe の年別被引用数1993 年: 被引用 1 件1995 年: 被引用 2 件1996 年: 被引用 1 件1997 年: 被引用 15 件1998 年: 被引用 15 件1999 年: 被引用 14 件2000 年: 被引用 35 件2001 年: 被引用 27 件2002 年: 被引用 48 件2003 年: 被引用 71 件2004 年: 被引用 104 件2005 年: 被引用 101 件2006 年: 被引用 117 件2007 年: 被引用 108 件2008 年: 被引用 134 件2009 年: 被引用 148 件2010 年: 被引用 147 件2011 年: 被引用 139 件2012 年: 被引用 145 件2013 年: 被引用 156 件2014 年: 被引用 175 件2015 年: 被引用 179 件2016 年: 被引用 165 件2017 年: 被引用 121 件2018 年: 被引用 126 件2019 年: 被引用 475 件2020 年: 被引用 542 件2021 年: 被引用 528 件2022 年: 被引用 385 件2023 年: 被引用 265 件2024 年: 被引用 425 件2025 年: 被引用 175 件2026 年: 被引用 2 件1994 年は被引用が無いため表示していません

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 2,275 件、この内訳の 24.6%イギリス: 引用元論文 800 件、この内訳の 8.7%フランス: 引用元論文 663 件、この内訳の 7.2%イタリア: 引用元論文 505 件、この内訳の 5.5%ドイツ: 引用元論文 500 件、この内訳の 5.4%中国: 引用元論文 463 件、この内訳の 5%カナダ: 引用元論文 439 件、この内訳の 4.7%オランダ: 引用元論文 410 件、この内訳の 4.4%オーストラリア: 引用元論文 281 件、この内訳の 3%日本: 引用元論文 264 件、この内訳の 2.9%ベルギー: 引用元論文 236 件、この内訳の 2.6%スペイン: 引用元論文 236 件、この内訳の 2.5%
0%24.6%その他 23.5%

分野

  • Biochemistry, Genetics and Molecular Biology60.4%
  • Medicine26.5%
  • Neuroscience6.4%
  • Immunology and Microbiology5.1%
  • Nursing0.4%
  • Agricultural and Biological Sciences0.4%
  • その他0.8%

トピック

  • Wnt/β-catenin signaling in development and cancer3.2%
  • Genetics and Neurodevelopmental Disorders3.2%
  • Genomic variations and chromosomal abnormalities2.7%
  • Genomics and Rare Diseases2.6%
  • Bone Metabolism and Diseases2.1%
  • Epigenetics and DNA Methylation2%
  • その他84.2%

共著者

全論文

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  1. 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

  2. LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , B. Floege, M. L. Halfhide, Bryan Hall, Raoul C. M. Hennekam, Tatsuo Hirose, Anneke Jans, Harald Jüppner, Chong Ae Kim, Kim M. Keppler‐Noreuil, A. Kohlschuetter, Didier Lacombe, Marie Lambert, Emmanuelle Lemyre, Tom G.W. Letteboer, Leena Peltonen, Raj Ramesar, Marta Romanengo, Hannu Somer, Elisabeth Steichen‐Gersdorf, B Steinmann, Beth Sullivan, Andrea Superti‐Furga, Walter Swoboda, M. J. van den Boogaard, Wim Van Hul, Miikka Vikkula, Marcela Votruba, Bernhard Zabel, Teresa García, Roland Baron, Bjørn R. Olsen, Matthew L. Warman - Cell 2001 被引用: 2,248

  3. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Christopher Rittey, R. Curtis Rogers, Amparo Sanchís, John B.P. Stephenson, Uta Tacke, Marianne Till, John Tolmie, Pam Tomlin, Thomas Voït, Bernhard Weschke, C. Geoffrey Woods, Pierre Lebon, David T. Bonthron, Chris P. Ponting, Andrew P. Jackson - Nature Genetics 2006 被引用: 673

  4. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Fiona Francis, Renzo Guerrini, Nicholas J. Cowan, Nadia Bahi‐Buisson, Jamel Chelly - Nature Genetics 2013 被引用: 498

  5. Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , John Dean, Corinne De Laet, Claudine De Praeter, Catherine Déry, Colin D. Ferrie, Kim Flintoff, Suzanna G.M. Frints, Àngels García‐Cazorla, Blanca Gener, Cyril Goizet, Françoise Goutières, Andrew Green, Agnès Guët, Ben C.J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. M. Hennekam, Marie Husson, Andrew P. Jackson, Rasieka Jayatunga, Yong‐hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen Kingston, Joerg Klepper, Marjo S. van der Knaap, Andrew J. Kornberg, Dieter Kotzot, W Kratzer, Didier Lacombe, Lieven Lagae, P. Landrieu, Giovanni Lanzi, Andrea Leitch, Ming Lim, John H. Livingston, Charles Marques Lourenço, E G Hermione Lyall, Sally Ann Lynch, Michael J. Lyons, Daphna Marom, John P. McClure, Robert McWilliam, Serge B. Melançon, Leena Mewasingh, Marie‐Laure Moutard, Ken K. Nischal, John R. Østergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Roland, Elisabeth Rosser, Kevin Rostásy, Agathe Roubertie, Amparo Sanchís, Raphael Schiffmann, Sabine Scholl‐Bürgi, Sunita Seal, Stavit A. Shalev, Concepción Sierra Córcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B.P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John Tolmie ほか 18 名 - The American Journal of Human Genetics 2007 被引用: 450

  6. AGC1/2, the mitochondrial aspartate-glutamate carriers

    著者: , , , , , , - Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 2016 被引用: 125

  7. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

    著者: , , , , , , , , - Clinical Genetics 2019 被引用: 164

  8. Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Claire Fieschi, Jean Michon, Vladimir P. Bermudez, Laurent Abel, Jean‐Pierre de Villartay, Frédéric Geissmann, Stuart G. Tangye, Jerard Hurwitz, Éric Vivier, Jean‐Laurent Casanova, Agata Smogorzewska, Emmanuelle Jouanguy - Journal of Clinical Investigation 2017 被引用: 144

  9. Ubiquitin-Dependent Degradation of Mitochondrial Proteins Regulates Energy Metabolism

    著者: , , , , , , , , , - Cell Reports 2018 被引用: 147

  10. High glucose repatterns human podocyte energy metabolism during differentiation and diabetic nephropathy

    著者: , , , , , , , , , , , , , , - The FASEB Journal 2016 被引用: 101

  11. Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease

    著者: , , , , , , , , - Clinical Genetics 2021 被引用: 89

  12. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Cédric Le Caignec, Christa Lese Martin, Katrin Männik, Andres Metspalu, Cyril Mignot, Pratik Mukherjee, Michael J. Owen, Marzia Passeggeri, Caroline Rooryck, Jill A. Rosenfeld, Sarah Spence, Kyle J. Steinman, Jennifer Tjernagel, Mieke M. van Haelst, Yiping Shen, Bogdan Draganski, Elliott H. Sherr, David H. Ledbetter, Marianne B. M. van den Bree, J. Beckmann, John E. Spiro, Alexandre Reymond, Sébastien Jacquemont, Wendy K. Chung - JAMA Psychiatry 2015 被引用: 296

  13. Molecular characterization of a series of 990 index patients with albinism

    著者: , , , , , , , , , , - Pigment Cell & Melanoma Research 2018 被引用: 153

  14. Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

    著者: , , , - Genes 2021 被引用: 94

  15. A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

    著者: , , , , , , , , , , , , , , , , , , , - Nature Genetics 1997 被引用: 679

  16. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

    著者: , , , , , , , , , , , , , , , , , , , , , , , - Human Mutation 2010 被引用: 241

  17. Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloès, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit, Bernd Wollnik - Human Mutation 2016 被引用: 192

  18. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth‐Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban, Yi-Shin Chang, Maxwell Cheong, Vivian Chow, Zili D. Chu, Darina Chudnovskaya, Lauren Cornew, Corby L. Dale, John Dell, Allison G. Dempsey, Trent D. DesChamps ほか 90 名 - Biological Psychiatry 2018 被引用: 91

  19. Metabolic Reprogramming in Amyotrophic Lateral Sclerosis

    著者: , , , , , , , , , , , - Scientific Reports 2018 被引用: 83

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 2021 被引用: 34

  21. Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Jeanette C. Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje W.M. van Bon, Conny van Ravenswaaij, Bruce H. Wainer, Andrew E. Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean‐Baptiste Rivière, William B. Dobyns, Daniela T. Pilz - European Journal of Human Genetics 2014 被引用: 174

  22. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , - European Journal of Human Genetics 2024 被引用: 62

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 62

  24. Mitochondrial functions and rare diseases

    著者: , , , , - Molecular Aspects of Medicine 2020 被引用: 61