Didier Lacombe
Active 1992–2025
- Also published as
- Didier, Lacombe
- 145
- Papers
- 18,310
- Citations
- 85
- h-index
- 141
- i10-index
Citations
Citation sources
Countries
Institutions
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
- Benoı̂t Arveiler19
- Laurence Faivre19
- Alain Verloès17
- Bertrand Isidor16
- Albert David15
- Valérie Cormier‐Daire15
- Hélène Dollfus14
- Sylvie Odent14
- Odile Boute13
- Alice Goldenberg12
- Christine Francannet12
- Delphine Héron12
- Julien Van‐Gils12
- Rodrigue Rossignol12
- Cyril Goizet11
- Aurélien Trimouille10
- Caroline Rooryck10
- Clarisse Baumann10
- Dominique Bonneau10
- Geneviève Baujat10
- Marie‐Ange Delrue10
- Patricia Fergelot10
- Alexandra Afenjar9
- Annick Toutain9
All papers
- Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Authors: Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, Mouna Barat‐Houari, Nathalie Ruiz-Pallares, Jean‐Christophe Andrau, Didier Lacombe, Julien Van‐Gils, Patricia Fergelot, Christèle Dubourg, Valérie Cormier‐Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Véber, Gaël Nicolas, Gaëtan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin‐Robinet, Frédéric Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel M. A. M. Mannens, Peter Henneman, Raoul C. Hennekam, Guillaume Velasco, Claire Francastel, 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 2020 cited by 334
- LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
Authors: Yaoqin Gong, Roger B. Slee, Naomi Fukai, Georges Rawadi, Sergio Roman‐Roman, Anthony M. Reginato, Hongwei Wang, Tim Cundy, F. H. Glorieux, Dorit Lev, Margaret Zacharin, Konrad Oexle, J. R. Marcelino, W. Suwairi, Shauna Heeger, G. Sabatakos, Suneel Apte, William N. Adkins, Jeremy Allgrove, Mine Arslan‐Kirchner, Jennifer Batch, Peter Beighton, Graeme C. Black, Richard G. Boles, Laurence M. Boon, C Borrone, HG Brunner, Georges F. Carle, Bruno Dallapiccola, Anne De Paepe, 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
- Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
Authors: Yanick J. Crow, Andrea Leitch, Bruce E. Hayward, Anna Garner, Rekha Parmar, Elen Griffith, Manir Ali, Colin A. Semple, Jean Aicardi, Riyana Babul‐Hirji, Clarisse Baumann, Peter Baxter, Enrico Bertini, Kate Chandler, David Chitayat, D. Cau, Catherine Déry, Elisa Fazzi, Cyril Goizet, Mary D. King, Joerg Klepper, Didier Lacombe, Giovanni Lanzi, Hermione Lyall, María Luisa Martínez‐Frías, Michèle Mathieu, C McKeown, Anne Monier, Yvette Oade, Oliver Quarrell, 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
- Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Authors: Karine Poirier, Nicolas Lebrun, Loïc Broix, Guoling Tian, Yoann Saillour, Cécile Boscheron, Elena Parrini, Stéphanie Valence, Benjamin Saint Pierre, Madison Oger, Didier Lacombe, David Geneviève, Elena Fontana, Francesca Darra, Claude Cancès, Magalie Barth, Dominique Bonneau, Bernardo Dalla Bernadina, Sylvie Nguyen, Cyril Gitiaux, Philippe Parent, Vincent des Portes, Jean Michel Pedespan, Victoire Legrez, Laetitia Castelnau-Ptakine, Patrick Nitschké, Thierry Hieu, Cécile Masson, Diana Zélénika, Annie Andrieux, Fiona Francis, Renzo Guerrini, Nicholas J. Cowan, Nadia Bahi‐Buisson, Jamel Chelly - Nature Genetics 2013 cited by 498
- Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
Authors: Gillian Rice, Teresa Patrick, Rekha Parmar, Claire Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward Blair, Nenad Blau, David T. Bonthron, Tracy A. Briggs, Louise Brueton, Han G. Brunner, Christopher J. Burke, Ian Carr, Daniel R. Carvalho, Kate Chandler, H.‐J. Christen, Peter Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, 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
- AGC1/2, the mitochondrial aspartate-glutamate carriers
Authors: Nívea Dias Amoêdo, Giuseppe Punzi, Émilie Obre, Didier Lacombe, Anna Grassi, Ciro Leonardo Pierri, Rodrigue Rossignol - Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 2016 cited by 125
- Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients
Authors: Dominique P. Germain, Alain Fouilhoux, Stéphane Decramer, M. Tardieu, Pascal Pillet, Marc Fila, Serge Rivera, Georges Deschênes, Didier Lacombe - Clinical Genetics 2019 cited by 164
- Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency
Authors: Julien Cottineau, Molly C. Kottemann, Francis P. Lach, Young‐Hoon Kang, Frédéric Vely, Elissa K. Deenick, Tomi Lazarov, Laure Gineau, Yi Wang, Andrea Farina, Marie Chansel, Lazaro Lorenzo, Christelle Pipéroglou, S. Cindy, Patrick Nitschké, Aziz Belkadi, Yuval Itan, Bertrand Boisson, Fabienne Jabot‐Hanin, Capucine Pïcard, Jacinta Bustamante, Céline Eidenschenk, Soraya Boucherit, Nathalie Aladjidi, Didier Lacombe, Pascal Barat, Waseem Qasim, Jane A. Hurst, Andrew J. Pollard, Holm H. Uhlig, 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
- Ubiquitin-Dependent Degradation of Mitochondrial Proteins Regulates Energy Metabolism
Authors: Julie Lavie, Harmony De Belvalet, Sessinou Sonon, Ana Mãdãlina Ion, Elodie Dumon, Su Melser, Didier Lacombe, Jean‐William Dupuy, Claude Lalou, Giovanni Bénard - Cell Reports 2018 cited by 147
- High glucose repatterns human podocyte energy metabolism during differentiation and diabetic nephropathy
Authors: Toshiyuki Imasawa, Toshiyuki Imasawa, Émilie Obre, Nadège Bellancé, Julie Lavie, Tomoko Imasawa, Tomoko Imasawa, Claire Rigothier, Yahsou Delmas, Christian Combe, Didier Lacombe, Giovanni Bénard, Stéphane Claverol, Marc Bonneu, Rodrigue Rossignol - The FASEB Journal 2016 cited by 101
- Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease
Authors: Dominique P. Germain, Thierry Levade, Eric Hachulla, Bertrand Knebelmann, Didier Lacombe, Vanessa Leguy Seguin, Karine Nguyen, Esther Noël, Jean‐Pierre Rabès - Clinical Genetics 2021 cited by 89
- Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
Authors: Debra D’Angelo, Sébastien Lebon, Qixuan Chen, Sandra Martin-Brevet, LeeAnne Green Snyder, Loyse Hippolyte, Ellen Hanson, Anne Maillard, W. Andrew Faucett, Aurélien Macé, Aurélie Pain, Raphael Bernier, Samuel J. R. A. Chawner, Albert David, Joris Andrieux, Elizabeth Aylward, Geneviève Baujat, Inês Caldeira, Philippe Conus, Carrina Ferrari, Francesca Forzano, Marion Gérard, Robin P. Goin‐Kochel, P. Ellen Grant, Jill V. Hunter, Bertrand Isidor, Aurélia Jacquette, Aia Elise Jønch, Boris Keren, Didier Lacombe, 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
- Molecular characterization of a series of 990 index patients with albinism
Authors: Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud, Perrine Pennamen, Aurélien Trimouille, Laëtitia Gaston, Solène Monfermé, Didier Lacombe, Caroline Rooryck, Fanny Morice‐Picard, Benoı̂t Arveiler - Pigment Cell & Melanoma Research 2018 cited by 153
- Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Authors: Julien Van‐Gils, Frédérique Magdinier, Patricia Fergelot, Didier Lacombe - Genes 2021 cited by 94
- A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family
Authors: Sonia Abdelhak, Vasiliki Kalatzis, Roland Heilig, Sylvie Compain, Delphine Samson, C. Vincent, Dominique Weil, Corinne Cruaud, Iman Sahly, Michel Leibovici, Maria Bitner‐Glindzicz, Mary C. Francis, Didier Lacombe, Jacqueline Vigneron, R Charachon, Katia Boven, P Bedbeder, Nicole Van Regemorter, Jean Weissenbach, Christine Petit - Nature Genetics 1997 cited by 679
- NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
Authors: Éric Pasmant, Audrey Sabbagh, Gill Spurlock, Ingrid Laurendeau, Elisa Grillo, Marie-José Hamel, Ludovic Martin, S. Barbarot, Bruno Leheup, Diana Rodriguez, Didier Lacombe, Hélène Dollfus, Laurent Pasquier, Bertrand Isidor, S. Ferkal, Jean Soulier, Marc Sanson, Anne Dieux‐Coëslier, Ivan Bièche, Béatrice Parfait, Michel Vidaud, P. Wolkenstein, Meena Upadhyaya, Dominique Vidaud - Human Mutation 2010 cited by 241
- Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2
Authors: Nina Bögershausen, Vincent Gâtinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Şimşek‐Kiper, Mouna Barat‐Houari, Nursel Elçioğlu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoğlu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier‐Daire, Damien Sanlaville, Fabienne Giuliano, Kim‐Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroğlu, 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
- Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
Authors: Sandra Martin-Brevet, Borja Rodríguez‐Herreros, Jared A. Nielsen, Clara Moreau, Claudia Modenato, Anne Maillard, Aurélie Pain, Sonia Richetin, Aia Elise Jønch, Abid Qureshi, Nicole R. Zürcher, Philippe Conus, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean‐Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, 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
- Metabolic Reprogramming in Amyotrophic Lateral Sclerosis
Authors: Marion Szelechowski, Nívea Dias Amoêdo, Émilie Obre, Clémence Leger, Louise Allard, Marc Bonneu, Stéphane Claverol, Didier Lacombe, Stéphane H. R. Oliet, S. Chevallier, Gwendal Le Masson, Rodrigue Rossignol - Scientific Reports 2018 cited by 83
- Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Authors: Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, Groupe DI France, Mouna Barat‐Houari, Nathalie Ruiz-Pallares, Jean‐Christophe Andrau, Didier Lacombe, Julien Van‐Gils, Patricia Fergelot, Christèle Dubourg, Valérie Cormier‐Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Véber, Gaël Nicolas, Gaëtan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin‐Robinet, Frédéric Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel M. A. M. Mannens, Peter Henneman, Raoul C. M. Hennekam, Guillaume Velasco, Claire Francastel, 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
- Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Authors: Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon, Marjolijn C.J. Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han G. Brunner, Débora Romeo Bertola, Nicolas Chassaing, Albert David, Koenraad Devriendt, Pirayeh Eftekhari, Valérie Drouin‐Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge L. Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela E. Lin, Grazia M.S. Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, G Morin, Marjan M. Nezarati, Małgorzata J.M. Nowaczyk, 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
- Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
Authors: Hélène Dollfus, Marc R. Liliën, Pietro Maffei, Alain Verloès, Jean Muller, Giacomo Maria Bacci, Metin Cetiner, Erica L T van den Akker, Monika Grudzinska Pechhacker, Francesco Testa, Didier Lacombe, Marijn F. Stokman, Francesca Simonelli, Aurélie Gouronc, Amélie Gavard, Mieke M. van Haelst, Jens Koenig, Sylvie Rossignol, Carsten Bergmann, Miriam Zacchia, Bart P. Leroy, Héléna Mosbah, Albertien M. van Eerde, Djalila Mekahli, Aude Servais, Christine Poitou, Diana Valverde - European Journal of Human Genetics 2024 cited by 62
- 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
- Mitochondrial functions and rare diseases
Authors: Laetitia Dard, Wendy Blanchard, Christophe Hubert, Didier Lacombe, Rodrigue Rossignol - Molecular Aspects of Medicine 2020 cited by 61
