Martin Chevarin (M Chevarin)

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 13

Top Venues

European journal of human genetics : EJHG

The British journal of dermatology

Genetics in medicine : official journal of the American College of Medical Genetics

Pathogens (Basel, Switzerland)

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

Publications

Paul Kuentz, Camille Engel, Mathieu Laeng, Martin Chevarin, Yannis Duffourd, Jéhanne Martel, Juliette Piard, Fanny Morice-Picard, Hélène Aubert, Didier Bessis, Guerrot Anne Marie, Annabel Maruani, Olivia Boccara, Mazereeuw-Hautier Juliette, Hagen Ott, Alice Phan, Eve Puzenat, Chloe Quelin, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Pierre Vabres
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome. The British journal of dermatology 191 (2) (2024)
Paul Kuentz, Camille Engel, Mathieu Laeng, Martin Chevarin, Yannis Duffourd, Jéhanne Martel, Juliette Piard, Fanny Morice-Picard, Hélène Aubert, Didier Bessis, Guerrot Anne Marie, Annabel Maruani, Olivia Boccara, Mazereeuw-Hautier Juliette, Hagen Ott, Alice Phan, Eve Puzenat, Chloe Quelin, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Pierre Vabres
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome. The British journal of dermatology 191 (2) (2024)
Robin Wijngaard, German Demidov, Luke O'Gorman, Jordi Corominas-Galbany, Burcu Yaldiz, Wouter Steyaert, Elke de Boer, Lisenka E L M Vissers, Erik-Jan Kamsteeg, Rolph Pfundt, Hilde Swinkels, Amber den Ouden, Iris B A W Te Paske, Richarda M de Voer, Laurence Faivre, Anne Sophie Denommé-Pichon, Yannis Duffourd, Antonio Vitobello, Martin Chevarin, Volker Straub, Ana Topf, Anneke J van der Kooi, Francesca Magrinelli, Clarissa Rocca, Michael G Hanna, Jana Vandrovcova, null null, Stephan Ossowski, Steven Laurie, Christian Gilissen
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples. European journal of human genetics : EJHG (2023)
Robin Wijngaard, German Demidov, Luke O'Gorman, Jordi Corominas-Galbany, Burcu Yaldiz, Wouter Steyaert, Elke de Boer, Lisenka E L M Vissers, Erik-Jan Kamsteeg, Rolph Pfundt, Hilde Swinkels, Amber den Ouden, Iris B A W Te Paske, Richarda M de Voer, Laurence Faivre, Anne Sophie Denommé-Pichon, Yannis Duffourd, Antonio Vitobello, Martin Chevarin, Volker Straub, Ana Topf, Anneke J van der Kooi, Francesca Magrinelli, Clarissa Rocca, Michael G Hanna, Jana Vandrovcova, null null, Stephan Ossowski, Steven Laurie, Christian Gilissen
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples. European journal of human genetics : EJHG (2023)
Eloïse Bailly, Stéphane Valot, Anne Vincent, Yannis Duffourd, Nadège Grangier, Martin Chevarin, Damien Costa, Romy Razakandrainibe, Loïc Favennec, Louise Basmaciyan, Frédéric Dalle
Evaluation of Next-Generation Sequencing Applied to Cryptosporidium parvum and Cryptosporidium hominis Epidemiological Study. Pathogens (Basel, Switzerland) 11 (8) (2022)
Philippine Garret, Martin Chevarin, Antonio Vitobello, Simon Verdez, Cyril Fournier, Alain Verloes, Emilie Tisserant, Pierre Vabres, Orlane Prevel, Christophe Philippe, Anne Sophie Denommé-Pichon, Ange-Line Bruel, Frédéric Tran Mau Them, Hana Safraou, Aïcha Boughalem, Jean-Marc Costa, Detlef Trost, Christel Thauvin-Robinet, Laurence Faivre, Yannis Duffourd
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort. European journal of human genetics : EJHG (2022)
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frédéric Tran Mau Them, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Julian Delanne, Martin Chevarin, Charlotte Pöe, Julien Thevenon, Daphné Lehalle, Nolween Jean-Marçais, Paul Kuentz, Laetitia Lambert, Salima El Chehadeh, Elise Schaefer, Marjolaine Willems, Fanny Laffargue, Christine Francannet, Mélanie Fradin, Dominique Gaillard, Sophie Blesson, Alice Goldenberg, Yline Capri, Paul Sagot, Thierry Rousseau, Emmanuel Simon, Christine Binquet, Marie-Laure Ascencio, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Antonio Vitobello, Christel Thauvin-Robinet
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? European journal of human genetics : EJHG 30 (8) (2022)
Virginie Carmignac, G Salomon, M Severino-Freire, Y Duffourd, Martin Chevarin, P Vabres, Mazereeuw-Hautier Juliette
Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome. The British journal of dermatology (2021)
Aurélien Juven, Sophie Nambot, Amelie Piton, Nolwenn Jean-Marçais, Alice Masurel, Patrick Callier, Nathalie Marle, Anne-Laure Mosca-Boidron, Paul Kuentz, Christophe Philippe, Martin Chevarin, Yannis Duffourd, Elodie Gautier, Arnold Munnich, Marlène Rio, Sophie Rondeau, Salima El Chehadeh, Élise Schaefer, Bénédicte Gérard, Sonia Bouquillon, Catherine Vincent Delorme, Christine Francannet, Fanny Laffargue, Laetitia Gouas, Bertrand Isidor, Marie Vincent, Sophie Blesson, Fabienne Giuliano, Olivier Pichon, Cédric Le Caignec, Hubert Journel, Laurence Perrin-Sabourin, Jennifer Fabre-Teste, Dominique Martin, Gaelle Vieville, Klaus Dieterich, Didier Lacombe, Anne Sophie Denommé-Pichon, Christel Thauvin-Robinet, Laurence Faivre
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20. European journal of human genetics : EJHG 28 (8) (2020)
Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thevenon, Ange-Line Bruel, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Alice Goldenberg, Nathalie Le Meur, Aude Charollais, Cyril Mignot, Florence Petit, Massimiliano Rossi, Julia Metreau, Valérie Layet, Daniel Amram, Odile Boute-Bénéjean, Elizabeth Bhoj, Margot A Cousin, Teresa M Kruisselbrink, Brendan C Lanpher, Eric W Klee, Elise Fiala, Dorothy K Grange, Wendy S Meschino, Susan M Hiatt, Gregory M Cooper, Hilde Olivié, Wendy E Smith, Meghan Dumas, Anna Lehman, null null, Cara Inglese, Mathilde Nizon, Renzo Guerrini, Annalisa Vetro, Eitan S Kaplan, Dolores Miramar, Julien Van Gils, Patricia Fergelot, Olaf Bodamer, Johanna C Herkert, Sander Pajusalu, Katrin Õunap, James J Filiano, Thomas Smol, Amelie Piton, Bénédicte Gérard, Sandra Chantot-Bastaraud, Thierry Bienvenu, Dong Li, Jane Juusola, Koen Devriendt, Frederic Bilan, Charlotte Poé, Martin Chevarin, Thibaud Jouan, Emilie Tisserant, Jean-Baptiste Rivière, Frédéric Tran Mau-Them, Christophe Philippe, Yannis Duffourd, William B Dobyns, Robert F Hevner, Christel Thauvin-Robinet
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. European journal of human genetics : EJHG 28 (6) (2020)
Ange-Line Bruel, Sophie Nambot, Virginie Quéré, Antonio Vitobello, Julien Thevenon, Mirna Assoum, Sébastien Moutton, Nada Houcinat, Daphné Lehalle, Nolwenn Jean-Marçais, null null, Martin Chevarin, Thibaud Jouan, Charlotte Poë, Patrick Callier, Emilie Tisserand, Christophe Philippe, Frédéric Tran Mau Them, Yannis Duffourd, Laurence Faivre, Christel Thauvin-Robinet
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing. European journal of human genetics : EJHG 27 (10) (2019)
Francois Lecoquierre, Yannis Duffourd, Antonio Vitobello, Ange-Line Bruel, Benoit Urteaga, Christine Coubes, Philippine Garret, Sophie Nambot, Martin Chevarin, Thibaud Jouan, Sebastien Moutton, null null, Frédéric Tran-Mau-Them, Christophe Philippe, Arthur Sorlin, Laurence Olivier-Faivre, Christel Thauvin-Robinet
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Christel Thauvin-Robinet, Julien Thevenon, Sophie Nambot, Julian Delanne, Paul Kuentz, Ange-Line Bruel, Aline Chassagne, Elodie Cretin, Aurore Pelissier, Chritine Peyron, Elodie Gautier, Daphné Lehalle, Nolwenn Jean-Marçais, Patrick Callier, Anne-Laure Mosca-Boidron, Antonio Vitobello, Arthur Sorlin, Frédéric Tran Mau-Them, Christophe Philippe, Pierre Vabres, Laurent Demougeot, Charlotte Poé, Thibaud Jouan, Martin Chevarin, Mathilde Lefebvre, Marc Bardou, Emilie Tisserant, Maxime Luu, Christine Binquet, Jean-François Deleuze, Céline Verstuyft, Yannis Duffourd, Laurence Faivre
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. European journal of human genetics : EJHG 27 (8) (2019)

Martin Chevarin.css-eqlu8i{font-size:small;padding-left:4px;} (M Chevarin)

Publication Activity (10 Years)

Top Topics

Top Venues

Martin Chevarin (M Chevarin)