Arthur Sorlin

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 14

Top Venues

European journal of human genetics : EJHG

Human mutation

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

Clinical genetics

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

Publications

Eleonore Viora-Dupont, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Damien Sanlaville, Patrick Edery, Gaëtan Lesca, Audrey Putoux, Linda Pons, Amandine Cadenes, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Myrtille Spetchian, Meriem Yousfi, Dominique Salvi, Elodie Gautier, Antonio Vitobello, Anne Sophie Denommé-Pichon, Ange-Line Bruel, Frédéric Tran Mau Them, Anne Faudet, Boris Keren, Audrey Labalme, Nicolas Chatron, Carine Abel, Sophie Dupuis-Girod, Alice Poisson, Julien Buratti, Cyril Mignot, Alexandra Afenjar, Sandra Whalen, Perrine Charles, Solveig Heide, Linda Mouthon, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Anne-Sophie Briffaut, Marie-Laure Asensio, Christophe Philippe, Christel Thauvin-Robinet, Delphine Héron, Massimiliano Rossi, Nicolas Meunier-Bellard, Marcela Gargiulo, Christine Peyron, Christine Binquet, Laurence Olivier-Faivre
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study). European journal of human genetics : EJHG (2024)
Eleonore Viora-Dupont, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Damien Sanlaville, Patrick Edery, Gaëtan Lesca, Audrey Putoux, Linda Pons, Amandine Cadenes, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Myrtille Spetchian, Meriem Yousfi, Dominique Salvi, Elodie Gautier, Antonio Vitobello, Anne Sophie Denommé-Pichon, Ange-Line Bruel, Frédéric Tran Mau Them, Anne Faudet, Boris Keren, Audrey Labalme, Nicolas Chatron, Carine Abel, Sophie Dupuis-Girod, Alice Poisson, Julien Buratti, Cyril Mignot, Alexandra Afenjar, Sandra Whalen, Perrine Charles, Solveig Heide, Linda Mouthon, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Anne-Sophie Briffaut, Marie-Laure Asensio, Christophe Philippe, Christel Thauvin-Robinet, Delphine Héron, Massimiliano Rossi, Nicolas Meunier-Bellard, Marcela Gargiulo, Christine Peyron, Christine Binquet, Laurence Olivier-Faivre
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study). European journal of human genetics : EJHG 32 (9) (2024)
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Tzung-Chien Hsieh, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas Johannes Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel, Sophie Möller, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Ingrid Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill Anne Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, C M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V Fabie, Raphael A Bernier, Tychele N Turner, Siddharth Srivastava, Kira A Dies, Lindsay Swanson, Carrie Costin, Rebekah K Jobling, John G Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B Beck, May Christine V Malicdan, David R Adams, Lynne Wolfe, Rebecca D Ganetzky, Colleen Muraresku, Davit Babikyan, Zdenek Sedlacek, Miroslava Hancarova, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Genevieve, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Hussain Sabir, Derek Lim, Mark Hamilton, Lisa Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna Maria Cueto-González, Eduardo Fidel Tizzano, David Gomez Andres, Marta Codina Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah Jurgensmeyer, Anne M McRae, Mathieu Kent Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Amélie Bosc-Rosati, Julien Marcoux, Marie-Pierre Bousquet, Jeremie Poschmann, Frederic Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Arnaud Droit, Ype Elgersma, Andreas Martin Grabrucker, Francois V Bolduc, Stephane Bezieau, Frédéric Ebstein, Elke Krüger
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv : the preprint server for health sciences (2024)
Jérémie Courraud, Camille Engel, Angélique Quartier, Nathalie Drouot, Ursula Houessou, Damien Plassard, Arthur Sorlin, Elise Brischoux-Boucher, Evan Gouy, Lionel Van Maldergem, Massimiliano Rossi, Gaëtan Lesca, Patrick Edery, Audrey Putoux, Frederic Bilan, Brigitte Gilbert-Dussardier, Isis Atallah, Vera M Kalscheuer, Jean-Louis Mandel, Amelie Piton
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome. Molecular psychiatry (2023)
Emilie Tisserant, Antonio Vitobello, Davide Callegarin, Simon Verdez, Ange-Line Bruel, Ludwig Serge Aho Glélé, Arthur Sorlin, Eleonore Viora-Dupont, Marina Konyukh, Nathalie Marle, Sophie Nambot, Sebastien Moutton, Caroline Racine, Aurore Garde, Julian Delanne, Frédéric Tran Mau Them, Christophe Philippe, Paul Kuentz, Marlène Poulleau, Muriel Payet, Charlotte Poe, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Anne-Laure Mosca-Boidron, Julien Thevenon, Yannis Duffourd, Patrick Callier
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH. Annals of human genetics 86 (4) (2022)
Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha E Shur, Kristin Barañano, Sonal Mahida, Anna Chassevent, Allison Schreiber, Angelika L Erwin, Karen W Gripp, Fatima Rehman, Saskia Brulleman, Róisín McCormack, Gwynna de Geus, Louisa Kalsner, Arthur Sorlin, Ange-Line Bruel, David A Koolen, Melissa K Gabriel, Mari Rossi, David R Fitzpatrick, Andrew O M Wilkie, Eduardo Calpena, David Johnson, Alice Brooks, Marjon van Slegtenhorst, Julie Fleischer, Daniel Groepper, Kristin Lindstrom, A Micheil Innes, Allison Goodwin, Jennifer Humberson, Amanda Noyes, Katherine G Langley, Aida Telegrafi, Amy Blevins, Jessica Hoffman, Maria J Guillen Sacoto, Jane Juusola, Kristin G Monaghan, Sumit Punj, Marleen Simon, Rolph Pfundt, Ype Elgersma, Tjitske Kleefstra
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Human mutation 42 (4) (2021)
Ilaria Parenti, Daphne Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A de Man, Heidi Cope, Vandana Shashi, null null, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frederic Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M B H van de Laar, Marjon A van Slegtenhorst, Philippe M Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J Louie, Michael J Lyons, Amy Dobson, Astrid S Plomp, M Mahdi Motazacker, Frank J Kaiser, Andrew T Timberlake, Sabine A Fuchs, Christel Depienne, Mignot Cyril
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human genetics 140 (7) (2021)
Aurore Garde, Laurent Guibaud, Alice Goldenberg, Florence Petit, Rodolphe Dard, Joelle Roume, Juliette Mazereeuw-Hautier, Nicolas Chassaing, Didier Lacombe, Fanny Morice-Picard, Annick Toutain, Stéphanie Arpin, Olivia Boccara, Renaud Touraine, Patricia Blanchet, Christine Coubes, Marjolaine Willems, Lucile Pinson, Philippe Khau Van Kien, Christine Chiaverini, Fabienne Giuliano, Jean-Luc Alessandri, Michèle Mathieu-Dramard, Gilles Morin, Anne-Claire Bursztejn, Cyril Mignot, Diane Doummar, Frederico Di Rocco, Jenny Cornaton, Claire Nicolas, Elodie Gautier, Maxime Luu, Marc Bardou, Arthur Sorlin, Christophe Philippe, Patrick Edery, Massimiliano Rossi, Virginie Carmignac, Christel Thauvin-Robinet, Pierre Vabres, Laurence Faivre
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. Clinical genetics 99 (5) (2021)
Aurore Garde, Jenny Cornaton, Arthur Sorlin, Sébastien Moutton, Claire Nicolas, Christine Juif, David Geneviève, Laurence Perrin, Philippe Khau-Van-Kien, Thomas Smol, Catherine Vincent-Delorme, Bertrand Isidor, Benjamin Cogné, Alexandra Afenjar, Boris Keren, Christine Coubes, Fabienne Prieur, Annick Toutain, Yann Trousselet, Solène Bourgouin, Coralie Gonin-Olympiade, Kim Giraudat, Amélie Piton, Bénédicte Gérard, Sylvie Odent, Fanny Tessier, Lola Lemasson, Solveig Heide, Anne-Claire Gelineau, Catherine Sarret, Anne Miret, Elise Schaefer, Juliette Piard, Rémi Mathevet, Marion Boucon, Ange-Line Bruel, Frederic Tran Mau-Them, Martin Chevarin, Antonio Vitobello, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations. Clinical genetics 99 (3) (2020)
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)
Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, Bénédicte Demeer, Judith St-Onge, Yannis Duffourd, Paul Kuentz, Jean-Benoît Courcet, Virginie Carmignac, Philippine Garret, Didier Bessis, Odile Boute, Alain-Marie Bron, Guillaume Captier, Esther Carmi, Bernard Devauchelle, David Geneviève, Catherine Gondry-Jouet, Laurent Guibaud, Arnaud Lafon, Michèle Mathieu-Dramard, Julien Thevenon, William B Dobyns, Geneviève Bernard, Satyamaanasa Polubothu, Francesca Faravelli, Veronica A Kinsler, Christel Thauvin, Laurence Faivre, Margaret Elizabeth Ross, Jean-Baptiste Rivière
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature genetics 51 (10) (2019)
Philippine Garret, Céline Bris, Vincent Procaccio, Patrizia Amati-Bonneau, Pierre Vabres, Nada Houcinat, Emilie Tisserant, François Feillet, Ange-Line Bruel, Virginie Carmignac, Christophe Philippe, Arthur Sorlin, Frédéric Tran Mau-Them, Antonio Vitobello, Jean-Marc Costa, Aïcha Boughalem, Detlef Trost, Laurence Olivier-Faivre, Christel Thauvin-Robinet, Yannis Duffourd
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light. Human mutation 40 (12) (2019)
Paul Kuentz, Judith St-Onge, Yannis Duffourd, Jean-Benoît Courcet, Virginie Carmignac, Thibaud Jouan, Arthur Sorlin, Claire Abasq-Thomas, Juliette Albuisson, Jeanne Amiel, Daniel Amram, Stéphanie Arpin, Tania Attie-Bitach, Nadia Bahi-Buisson, Sébastien Barbarot, Geneviève Baujat, Didier Bessis, Olivia Boccara, Maryse Bonnière, Odile Boute, Anne-Claire Bursztejn, Christine Chiaverini, Valerie Cormier-Daire, Christine Coubes, Bruno Delobel, Patrick Edery, Salima El Chehadeh, Christine Francannet, David Genevieve, Alice Goldenberg, Damien Haye, Bertrand Isidor, Marie-Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Ludovic Martin, Jelena Martinovic, Annabel Maruani, Michèle Mathieu-Dramard, Juliette Mazereeuw-Hautier, Caroline Michot, Mignot Cyril, Juliette Miquel, Fanny Morice-Picard, Florence Petit, Alice Phan, Massimiliano Rossi, Renaud Touraine, Alain Verloes, Marie Vincent, Catherine Vincent-Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Daphne Lehalle, Julien Thevenon, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Pierre Vabres, Jean-Baptiste Rivière
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. Genetics in medicine : official journal of the American College of Medical Genetics 19 (9) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Arthur Sorlin