Didier Lacombe

Active 1992–2025

Also published as
Didier, Lacombe
145
Papers
18,310
Citations
85
h-index
141
i10-index

Citations

Citations per year for Didier Lacombe1993: 1 citations1995: 2 citations1996: 1 citations1997: 15 citations1998: 15 citations1999: 14 citations2000: 35 citations2001: 27 citations2002: 48 citations2003: 71 citations2004: 104 citations2005: 101 citations2006: 117 citations2007: 108 citations2008: 134 citations2009: 148 citations2010: 147 citations2011: 139 citations2012: 145 citations2013: 156 citations2014: 175 citations2015: 179 citations2016: 165 citations2017: 121 citations2018: 126 citations2019: 475 citations2020: 542 citations2021: 528 citations2022: 385 citations2023: 265 citations2024: 425 citations2025: 175 citations2026: 2 citations1994: no citations, so this year is not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 2,275 citing papers, 24.6% of this breakdownUnited Kingdom: 800 citing papers, 8.7% of this breakdownFrance: 663 citing papers, 7.2% of this breakdownItaly: 505 citing papers, 5.5% of this breakdownGermany: 500 citing papers, 5.4% of this breakdownChina: 463 citing papers, 5% of this breakdownCanada: 439 citing papers, 4.7% of this breakdownNetherlands: 410 citing papers, 4.4% of this breakdownAustralia: 281 citing papers, 3% of this breakdownJapan: 264 citing papers, 2.9% of this breakdownBelgium: 236 citing papers, 2.6% of this breakdownSpain: 236 citing papers, 2.5% of this breakdown
0%24.6%Other 23.5%

Fields

  • Biochemistry, Genetics and Molecular Biology60.4%
  • Medicine26.5%
  • Neuroscience6.4%
  • Immunology and Microbiology5.1%
  • Nursing0.4%
  • Agricultural and Biological Sciences0.4%
  • Other0.8%

Topics

  • 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%
  • Other84.2%

Coauthors

All papers

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 334

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 2,248

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 673

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Fiona Francis, Renzo Guerrini, Nicholas J. Cowan, Nadia Bahi‐Buisson, Jamel Chelly - Nature Genetics 2013 cited by 498

  5. Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 18 more - The American Journal of Human Genetics 2007 cited by 450

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

    Authors: , , , , , , - Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 2016 cited by 125

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

    Authors: , , , , , , , , - Clinical Genetics 2019 cited by 164

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 144

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

    Authors: , , , , , , , , , - Cell Reports 2018 cited by 147

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

    Authors: , , , , , , , , , , , , , , - The FASEB Journal 2016 cited by 101

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

    Authors: , , , , , , , , - Clinical Genetics 2021 cited by 89

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 296

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

    Authors: , , , , , , , , , , - Pigment Cell & Melanoma Research 2018 cited by 153

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

    Authors: , , , - Genes 2021 cited by 94

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

    Authors: , , , , , , , , , , , , , , , , , , , - Nature Genetics 1997 cited by 679

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , - Human Mutation 2010 cited by 241

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 192

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 90 more - Biological Psychiatry 2018 cited by 91

  19. Metabolic Reprogramming in Amyotrophic Lateral Sclerosis

    Authors: , , , , , , , , , , , - Scientific Reports 2018 cited by 83

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 34

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 174

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , - European Journal of Human Genetics 2024 cited by 62

  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. Mitochondrial functions and rare diseases

    Authors: , , , , - Molecular Aspects of Medicine 2020 cited by 61