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Nicolas Chatron (N Chatron, Nicolas Chassaing)

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 26

Top Venues

Clinical genetics

European journal of human genetics : EJHG

Human mutation

Prenatal diagnosis

This page only lists publications with an associated author ORCID identifier.

Publications

Federico Di Rocco, Massimiliano Rossi, Isabelle Verlut, Alexandru Szathmari, Pierre Aurélien Beuriat, Nicolas Chatron, Julie Chauvel-Picard, Carmine Mottolese, Pauline Monin, Matthieu Vinchon, Sofia Guernouche, Corinne Collet
Clinical interest of molecular study in cases of isolated midline craniosynostosis. European journal of human genetics : EJHG (2023)
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Kévin Uguen, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Isabelle Perthus, Gwenaël Le Gudayer, Damien Haye, Marie-Noëlle Bonnet Dupeyron, Audrey Putoux, Fabienne Raskin-Champion, Marianne Till, Nicolas Chatron, Bérénice Doray, Claire Bardel, Christine Vinciguerra, Damien Sanlaville, Caroline Schluth-Bolard
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Clinical genetics 103 (4) (2023)
Yonika A Larasati, Gonzalo P Solis, Alexey Koval, Silja T Griffiths, Ragnhild Berentsen, Ingvild Aukrust, Gaetan Lesca, Nicolas Chatron, Dorothée Ville, Christian M Korff, Vladimir L Katanaev
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R. Cells 12 (20) (2023)
Federico Di Rocco, Massimiliano Rossi, Isabelle Verlut, Alexandru Szathmari, Pierre Aurélien Beuriat, Nicolas Chatron, Julie Chauvel-Picard, Carmine Mottolese, Pauline Monin, Matthieu Vinchon, Sofia Guernouche, Corinne Collet
Clinical interest of molecular study in cases of isolated midline craniosynostosis. European journal of human genetics : EJHG (2023)
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Kévin Uguen, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Isabelle Perthus, Gwenaël Le Gudayer, Damien Haye, Marie-Noëlle Bonnet Dupeyron, Audrey Putoux, Fabienne Raskin-Champion, Marianne Till, Nicolas Chatron, Bérénice Doray, Claire Bardel, Christine Vinciguerra, Damien Sanlaville, Caroline Schluth-Bolard
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Clinical genetics 103 (4) (2023)
Malek Bouassida, Matthieu Egloff, Jonathan Levy, Nicolas Chatron, Laura Bernardini, Gwenaël Le Guyader, Anne-Claude Tabet, Caroline Schluth-Bolard, Francesco Brancati, Maria Grazia Giuffrida, Rodolphe Dard, Juliette Clorennec, Juliette Coursimault, François Vialard, Bérénice Hervé
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review. European journal of human genetics : EJHG (2023)
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Kévin Uguen, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Isabelle Perthus, Gwenaël Le Gudayer, Damien Haye, Marie-Noëlle Bonnet Dupeyron, Audrey Putoux, Fabienne Raskin-Champion, Marianne Till, Nicolas Chatron, Bérénice Doray, Claire Bardel, Christine Vinciguerra, Damien Sanlaville, Caroline Schluth-Bolard
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Clinical genetics 103 (4) (2023)
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Amy L Schneider, Emily S Bonkowski, Edith P Almanza Fuerte, Miranda Galey, Joy Goffena, Sophia B Gibson, Talia J Allan, Denis M Nyaga, Nico Lieffering, Heather C Mefford, Emily V Walker, Daniel Darnell, Scott R Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Monika Weisz Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette Grant Sadleir, Danny E Miller, Ingrid Eileen Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature. medRxiv : the preprint server for health sciences (2023)
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Séverine Audebert-Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noëlle Bonnet-Dupeyron, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chatron, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier-Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean-François Deleuze, Florence Demurger, Anne Sophie Denommé-Pichon, Christel Depienne, Anne Dieux, Christèle Dubourg, Patrick Edery, Salima El Chehadeh, Laurence Faivre, Patricia Fergelot, Mélanie Fradin, Aurore Garde, David Genevieve, Brigitte Gilbert-Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne-Marie Guerrot, Anne Guimier, Inès Harzalla, Delphine Héron, Bertrand Isidor, Didier Lacombe, Xavier Maximin Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Stanislas Lyonnet, Godelieve Morel, Nolwenn Jean-Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent Pasquier, Laurine Perrin, Florence Petit, Veronique Pingault, Amelie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quélin, Sylvia Quemener-Redon, Mélanie Rama, Marlène Rio, Massimiliano Rossi, Elise Schaefer, Sophie Rondeau, Pascale Saugier-Veber, Thomas Smol, Sabine Sigaudy, Renaud Touraine, Frederic Tran Mau-Them, Aurélien Trimouille, Julien Van Gils, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. European journal of human genetics : EJHG (2023)
Giuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, Chiara Auwerx, Sylvain Pradervand, Gilles Willemin, Kendra Hoekzema, Xander Nuttle, Jacqueline Chrast, Marie C Sadler, Eleonora Porcu, null null, Yann Hérault, Bertrand Isidor, Brigitte Gilbert-Dussardier, Evan E Eichler, Zoltan Kutalik, Alexandre Reymond
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts. NPJ genomic medicine 8 (1) (2023)
Giuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, Chiara Auwerx, Sylvain Pradervand, Gilles Willemin, Kendra Hoekzema, Xander Nuttle, Jacqueline Chrast, Marie C Sadler, Eleonora Porcu, null null, Yann Hérault, Bertrand Isidor, Brigitte Gilbert-Dussardier, Evan E Eichler, Zoltan Kutalik, Alexandre Reymond
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts. NPJ genomic medicine 7 (1) (2022)
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Kévin Uguen, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Isabelle Perthus, Gwenaël le Gudayer, Damien Haye, Marie-Noëlle Bonnet Dupeyron, Audrey Putoux, Fabienne Raskin-Champion, Marianne Till, Nicolas Chatron, Bérénice Doray, Claire Bardel, Christine Vinciguerra, Damien Sanlaville, Caroline Schluth-Bolard
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Clinical genetics (2022)
Sara Cabet, Alexandre Vasiljevic, Audrey Putoux, Audrey Labalme, Damien Sanlaville, Nicolas Chatron, Gaetan Lesca, Laurent Guibaud
Prenatal imaging features related to RAC3 pathogenic variant and differential diagnoses. Prenatal diagnosis 42 (4) (2022)
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Kévin Uguen, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Isabelle Perthus, Gwenaël Le Gudayer, Damien Haye, Marie-Noëlle Bonnet Dupeyron, Audrey Putoux, Fabienne Raskin-Champion, Marianne Till, Nicolas Chatron, Bérénice Doray, Claire Bardel, Christine Vinciguerra, Damien Sanlaville, Caroline Schluth-Bolard
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Clinical genetics (2022)
Yohann Jourdy, Nicolas Chatron, Mathilde Fretigny, Amy Dericquebourg, Damien Sanlaville, Christine Vinciguerra
Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6. Journal of thrombosis and haemostasis : JTH 20 (10) (2022)
Roseline Vibert, Cyril Mignot, Boris Keren, Sandra Chantot-Bastaraud, Marie-France Portnoï, Marie-Christine Nouguès, Marie-Laure Moutard, Anne Faudet, Sandra Whalen, Damien Haye, Catherine Garel, Nicolas Chatron, Massimiliano Rossi, Catherine Vincent-Delorme, Odile Boute, Bruno Delobel, Joris Andrieux, Françoise Devillard, Charles Coutton, Jacques Puechberty, Céline Pebrel-Richard, Cindy Colson, Marion Gerard, Chantal Missirian, Sabine Sigaudy, Tiffany Busa, Martine Doco-Fenzy, Valérie Malan, Marlène Rio, Bérénice Doray, Damien Sanlaville, Jean-Pierre Siffroi, Delphine Héron, Solveig Heide
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: genotype-phenotype correlation for anomalies of the corpus callosum. Clinical genetics (2021)
Judith Halewa, Sylviane Marouillat, Manon Dixneuf, Rose-Anne Thépault, Dévina C Ung, Nicolas Chatron, Bénédicte Gérard, Jamal Ghoumid, Gaëtan Lesca, Marianne Till, Thomas Smol, Nathalie Couque, Lyse Ruaud, Valérie Chune, Sarah Grotto, Alain Verloes, Marie-Laure Vuillaume, Annick Toutain, Martine Raynaud, Frederic Laumonnier
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder. Human mutation 42 (7) (2021)
L Allach El Khattabi, S Brun, P Gueguen, Nicolas Chatron, E Guichoux, S Schutz, J Nectoux, A Sorlin, M Quere, J Boudjarane, V Tsatsaris, L Mandelbrot, C Schluth-Bolard, J M Dupont, C Rooryck, null null
Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 54 (2) (2020)
Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean-Michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre-Antoine Rollat-Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tisserant, Frédéric Tran Mau-Them, Vincent Danjean, Marc Delepine, Marianne Till, Vincent Meyer, Stanislas Lyonnet, Anne-Laure Mosca-Boidron, Julien Thevenon, Laurence Olivier-Faivre, Christel Thauvin-Robinet, Caroline Schluth-Bolard, Anne Boland, Robert Olaso, Patrick Callier, Serge Romana, Jean-François Deleuze, Damien Sanlaville
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization. Molecular genetics & genomic medicine 8 (3) (2020)
Oriane Marmontel, Pierre Antoine Rollat-Farnier, Anne-Sophie Wozny, Sybil Charrière, Xavier Vanhoye, Thomas Simonet, Nicolas Chatron, Delphine Collin-Chavagnac, Séverine Nony, Sabrina Dumont, Muriel Mahl, Chantal Jacobs, Alexandre Janin, Cyrielle Caussy, Pierre Poinsot, Igor Tauveron, Claire Bardel, Gilles Millat, Noël Peretti, Philippe Moulin, Christophe Marçais, Mathilde Di Filippo
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia. Clinical genetics 98 (6) (2020)
Godelieve Morel, Céline Duhamel, Simon Boussion, Frédéric Frénois, Gaetan Lesca, Nicolas Chatron, Audrey Labalme, Damien Sanlaville, Patrick Edery, Julien Thevenon, Laurence Faivre, Alice Fassier, Olivier Prodhomme, Fabienne Escande, Sylvie Manouvrier, Florence Petit, David Geneviève, Massimiliano Rossi
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability. Human mutation 41 (9) (2020)
Nicolas Chatron, M Till, C Abel, C Bardel, F Ramond, D Sanlaville, C Schluth-Bolard
Detection of rare autosomal trisomies through non-invasive prenatal testing: benefits for pregnancy management. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 53 (1) (2019)
Nicolas Chatron, Kevin Cassinari, Olivier Quenez, Stéphanie Baert-Desurmont, Claire Bardel, Marie-Pierre Buisine, Eduardo Calpena, Yline Capri, Jordi Corominas Galbany, Flavie Diguet, Patrick Edery, Bertrand Isidor, Audrey Labalme, Cedric Le Caignec, Jonathan Lévy, François Lecoquierre, Pierre Lindenbaum, Olivier Pichon, Pierre-Antoine Rollat-Farnier, Thomas Simonet, Pascale Saugier-Veber, Anne-Claude Tabet, Annick Toutain, Andrew O M Wilkie, Gaetan Lesca, Damien Sanlaville, Gaël Nicolas, Caroline Schluth-Bolard
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis. Human mutation 40 (11) (2019)
Marguerite Hureaux, Selima Ben Miled, Nicolas Chatron, Aurelie Coussement, Bettina Bessières, Matthieu Egloff, Charlotte Mechler, Julien Stirnemann, Vassilis Tsatsaris, Giulia Barcia, Catherine Turleau, Yves Ville, Ferechte Encha-Razavi, Tania Attie-Bitach, Valérie Malan
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects. Prenatal diagnosis 39 (11) (2019)
Nicolas Chatron, Laure Raymond, Caroline Schluth-Bolard, Claire Bardel, Cyril Huissoud, Marc Nouchy, Damien Sanlaville, Mona Massoud
Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies". Prenatal diagnosis 39 (7) (2019)
Katrine Marie Johannesen, Diana Mitter, Robert Janowski, Christian Roth, Joseph Toulouse, Anne-Lise Poulat, Dorothee M Ville, Nicolas Chatron, Eva Brilstra, Karin Geleijns, Alfred Peter Born, Scott McLean, Kimberly Nugent, Gareth S Baynam, Cathryn Poulton, Lauren Dreyer, Dylan Gration, Solveig Schulz, Andrea Dieckmann, Katherine L Helbig, Andreas Merkenschlager, Rami Abou Jamra, Anja Finck, Elena Gardella, Henrik Hjalgrim, Ghayda M Mirzaa, Francesco Brancati, Tatjana Bierhals, Jonas Denecke, Maja Hempel, Johannes R Lemke, Guido Rubboli, Petra Muschke, Renzo Guerrini, Annalisa Vetro, Dierk Niessing, Gaëtan Lesca, Rikke Steensjerre Moller
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Neurology. Genetics 5 (6) (2019)

Nicolas Chatron.css-eqlu8i{font-size:small;padding-left:4px;} (N Chatron, Nicolas Chassaing)

Publication Activity (10 Years)

Top Topics

Top Venues

Nicolas Chatron (N Chatron, Nicolas Chassaing)