Benjamin Cogné (Benjamin Cogne)

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 17

Top Venues

Journal of medical genetics

European journal of human genetics : EJHG

Nature genetics

Research square

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

Publications

Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Stéphane Zuily, Bruno Leheup, David Geneviève, Natacha Dreumont, Emmanuelle Schmitt, Myriam Bronner, Marc Muller, Marion Divoux, Marion Wandzel, Jean-Marie Ravel, Mylène Dexheimer, Aurélie Becker, Virginie Roth, Marjolaine Willems, Christine Coubes, Gaëlle Vieville, Françoise Devillard, Élise Schaefer, Sarah Baer, Amelie Piton, Bénédicte Gérard, Marie Vincent, Mathilde Nizon, Benjamin Cogné, Lyse Ruaud, Nathalie Couque, Audrey Putoux, Patrick Edery, Gaëtan Lesca, Nicolas Chatron, Marianne Till, Laurence Olivier-Faivre, Frédéric Tran-Mau-Them, Jean-Luc Alessandri, Marine Lebrun, Chloé Quélin, Sylvie Odent, Christèle Dubourg, Véronique David, Marie Faoucher, Cyril Mignot, Boris Keren, Élise Pisan, Alexandra Afenjar, Sophie Julia, Éric Bieth, Guillaume Banneau, Alice Goldenberg, Thomas Husson, Dominique Campion, Francois Lecoquierre, Gaël Nicolas, Camille Charbonnier, Anne De Saint Martin, Sophie Naudion, Manon Degoutin, Sophie Rondeau, Caroline Michot, Valérie Cormier-Daire, Abderrahim Oussalah, Carine Pourié, Laëtitia Lambert, Céline Bonnet
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients. Journal of medical genetics (2024)
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Stéphane Zuily, Bruno Leheup, David Geneviève, Natacha Dreumont, Emmanuelle Schmitt, Myriam Bronner, Marc Muller, Marion Divoux, Marion Wandzel, Jean-Marie Ravel, Mylène Dexheimer, Aurélie Becker, Virginie Roth, Marjolaine Willems, Christine Coubes, Gaëlle Vieville, Françoise Devillard, Élise Schaefer, Sarah Baer, Amelie Piton, Bénédicte Gérard, Marie Vincent, Mathilde Nizon, Benjamin Cogné, Lyse Ruaud, Nathalie Couque, Audrey Putoux, Patrick Edery, Gaëtan Lesca, Nicolas Chatron, Marianne Till, Laurence Olivier-Faivre, Frédéric Tran-Mau-Them, Jean-Luc Alessandri, Marine Lebrun, Chloé Quélin, Sylvie Odent, Christèle Dubourg, Véronique David, Marie Faoucher, Cyril Mignot, Boris Keren, Élise Pisan, Alexandra Afenjar, Sophie Julia, Éric Bieth, Guillaume Banneau, Alice Goldenberg, Thomas Husson, Dominique Campion, Francois Lecoquierre, Gaël Nicolas, Camille Charbonnier, Anne De Saint Martin, Sophie Naudion, Manon Degoutin, Sophie Rondeau, Caroline Michot, Valérie Cormier-Daire, Abderrahim Oussalah, Carine Pourié, Laëtitia Lambert, Céline Bonnet
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients. Journal of medical genetics 61 (9) (2024)
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Stéphane Zuily, Bruno Leheup, David Geneviève, Natacha Dreumont, Emmanuelle Schmitt, Myriam Bronner, Marc Muller, Marion Divoux, Marion Wandzel, Jean-Marie Ravel, Mylène Dexheimer, Aurélie Becker, Virginie Roth, Marjolaine Willems, Christine Coubes, Gaëlle Vieville, Françoise Devillard, Élise Schaefer, Sarah Baer, Amelie Piton, Bénédicte Gérard, Marie Vincent, Mathilde Nizon, Benjamin Cogné, Lyse Ruaud, Nathalie Couque, Audrey Putoux, Patrick Edery, Gaëtan Lesca, Nicolas Chatron, Marianne Till, Laurence Olivier-Faivre, Frédéric Tran-Mau-Them, Jean-Luc Alessandri, Marine Lebrun, Chloé Quélin, Sylvie Odent, Christèle Dubourg, Véronique David, Marie Faoucher, Cyril Mignot, Boris Keren, Élise Pisan, Alexandra Afenjar, Sophie Julia, Éric Bieth, Guillaume Banneau, Alice Goldenberg, Thomas Husson, Dominique Campion, Francois Lecoquierre, Gaël Nicolas, Camille Charbonnier, Anne De Saint Martin, Sophie Naudion, Manon Degoutin, Sophie Rondeau, Caroline Michot, Valérie Cormier-Daire, Abderrahim Oussalah, Carine Pourié, Laëtitia Lambert, Céline Bonnet
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients. Journal of medical genetics 61 (9) (2024)
David Picketts, Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin, Stephan Collins, Alban Ziegler, Emily Pao, Nora Oyama, Elise Brischoux-Boucher, Juliette Piard, Kristin Monaghan, Maria Guillen Sacoto, William B Dobyns, Kristen L Park, Daniel Fernández-Mayoralas, Alberto Fernández Jaén, Parul Jayakar, Alfredo Brusco, Vincenzo Antona, Elisa Giorgio, Malin Kvarnung, Bertrand Isidor, Solène Conrad, Benjamin Cogné, Wallid Deb, K E Stuurman, Katalin Sterbova, Noor Smal, Sarah Weckhuysen, Renske Oegema, A Micheil Innes, Maeson Latsko, Tawfeg Ben-Omran, Rebecca Yeh, Michael C Kruer, Somayeh Bakhtiari, Antigone Papavasiliou, Sébastien Moutton, Sophie Nambot, Sirisak Chanprasert, Sarah Paolucci, Kait Miller, Barbara Burton, Katherine Kim, Emily O'Heir, Zandre Bruwer, Kirsten Ann Donald, Tjitske Kleefstra, Amy Goldstein, Brad Angle, Kelly Bontempo, Peter Miny, Pascal Joset, Florence Demurger, Emma Hobson, Lewis Pang, Lori Carpenter, Dong Li, Dominique Bonneau, Bekim Sadikovic
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition. Research square (2023)
Kevin Riquin, Bertrand Isidor, Sandra Mercier, Mathilde Nizon, Estelle Colin, Dominique Bonneau, Laurent Pasquier, Sylvie Odent, Xavier Maximin Le Guillou Horn, Gwenaël Le Guyader, Annick Toutain, Vincent Meyer, Jean-François Deleuze, Olivier Pichon, Martine Doco-Fenzy, Stéphane Bézieau, Benjamin Cogné
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders. Journal of medical genetics (2023)
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders, Saskia Maas, Bénédicte Gerard, Thomas Smol, Catherine Vincent-Delorme, Benjamin Cogné, Bertrand Isidor, Marie Vincent, Ruxandra Bachmann-Gagescu, Anita Rauch, Pascal Joset, Giovanbattista Giovanni Battista Ferrero, Andrea Ciolfi, Thomas Husson, Anne-Marie Guerrot, Carlos A Bacino, Colleen Macmurdo, Stephanie S Thompson, Jill Anne Rosenfeld, Laurence Olivier-Faivre, Frédéric Tran Mau Them, Wallid Deb, Virginie Vignard, Pankaj B Agrawal, Jill A Madden, Alice Goldenberg, François Lecoquierre, Michael Zech, Holger Prokisch, Ján Necpál, Robert Jech, Juliane Winkelmann, Monika Turčanová Koprušáková, Vassiliki Konstantopoulou, John R Younce, Marwan Shinawi, Chloe Mighton, Charlotte Fung, Chantal Morel, Jordan Lerner- Ellis, Stephanie DiTroia, Magalie Barth, Dominique Bonneau, Ingrid Krapels, Sander Stegmann, Vyne van der Schoot, Theresa Brunet, Cornelia Bußmann, Cyril Mignot, Thomas Courtin, Claudia Ravelli, Boris Keren, Alban Ziegler, Linda Hasadsri, Pavel N Pichurin, Eric W Klee, Katheryn Grand, Pedro A Sanchez-Lara, Elke Krüger, Stéphane Bézieau, Hannah Klinkhammer, Peter Michael Krawitz, Evan E Eichler, Tartaglia Marco, Sébastien Küry, Tianyun Wang
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv : the preprint server for health sciences (2023)
Mythily Ganapathi, Leticia S Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito-Sanz, Susan M White, Katherine Lachlan, Priyanka Ahimaz, Anshuman Sewda, Lisa Bastarache, Amanda Thomas-Wilson, Joan M Stoler, Nuria C Bramswig, Júlia Baptista, Karen L Stals, Florence Demurger, Benjamin Cogné, Bertrand Isidor, Maria Francesca Bedeschi, Angela Peron, Jeanne Amiel, Elaine H Zackai, John P Schacht, Alejandro D Iglesias, Jenny Morton, Ariane Schmetz, null null, Verónica Seidel, Stephanie Lucia, Stephanie M Baskin, Isabelle Thiffault, Joy D Cogan, Christopher T Gordon, Wendy K Chung, Sarah Bowdin, Elizabeth Joyce Bhoj
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. European journal of human genetics : EJHG (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, Christele 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, Frédéric 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)
Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-Reum Han, Ho Min Kim, Marja Wessels, Carolina Alvarez, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P M de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph D Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K Grange, Marjolaine Willems, Michael C Kruer, Jaewon Ko, Amelie Piton, Ji Won Um
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. Nature communications 13 (1) (2022)
Quentin Testard, Xavier Vanhoye, Kevin Yauy, Marie-Emmanuelle Naud, Gaelle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Geneviève, Vincent Gatinois, Constance Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, Rodolphe Dard, Aude Tessier, Bérénice Hervé, François Vialard, Ines Harzallah, Renaud Touraine, Benjamin Cogné, Wallid Deb, Thomas Besnard, Olivier Pichon, Béatrice Laudier, Laurent Mesnard, Alice Doreille, Tiffany Busa, Chantal Missirian, Véronique Satre, Charles Coutton, Tristan Celse, Radu Harbuz, Laure Raymond, Jean-François Taly, Julien Thevenon
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases. Journal of medical genetics 59 (12) (2022)
Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stephane Bezieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hülya Kayserili, Kimberly A Kripps, Shareef A Nahas, Eric P Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogné, Aida Maria Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. Nature genetics 54 (8) (2022)
Leila Ghesh, Thomas Besnard, Mathilde Nizon, Eva Trochu, Gaëlle Landeau-Trottier, Flora Breheret, Christel Thauvin-Robinet, Ange-Line Bruel, Paul Kuentz, Christine Coubes, Laurence Cuisset, Cyril Mignot, Boris Keren, Stéphane Bézieau, Benjamin Cogné
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder. Human mutation 42 (5) (2021)
Marion Aubert-Mucca, Olivier Patat, Sandra Whalen, Lionel Arnaud, Giulia Barcia, Julien Buratti, Benjamin Cogné, Diane Doummar, Caroline Karsenty, Sandra Kenis, Eric Le Guern, Gaëtan Lesca, Caroline Nava, Mathilde Nizon, Amelie Piton, Stéphanie Valence, Laurent Villard, Sarah Weckhuysen, Boris Keren, Cyril Mignot
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome. Journal of medical genetics (2021)
Margot A Cousin, Blake A Creighton, Keith A Breau, Rebecca C Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J Edwards, Simone Afriyie, Julia C Bay, Kathryn M Harper, Alvaro A Beltran, Lorena J Munoz, Liset Falcon Rodriguez, Michael C Stankewich, Richard E Person, Yue Si, Elizabeth A Normand, Amy Blevins, Alison S May, Louise Bier, Vimla Aggarwal, Grazia M S Mancini, Marjon A van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer J MacKenzie, Eva Brilstra, Koen L I van Gassen, Richard H van Jaarsveld, Renske Oegema, Gretchen M Parsons, Paul Mark, Ingo Helbig, Sarah E McKeown, Robert Stratton, Benjamin Cogné, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T C Shieh, Amy Kritzer, Parul Jayakar, Evangeline Kurtz-Nelson, Raphael A Bernier, Tianyun Wang, Evan E Eichler, Ingrid M B H van de Laar, Allyn McConkie-Rosell, Marie T McDonald, Jennifer Kemppainen, Brendan C Lanpher, Laura E Schultz-Rogers, Lauren B Gunderson, Pavel N Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, null null, null null, Adriana S Beltran, Michael T Zimmermann, Brenda Temple, Sheryl S Moy, Eric W Klee, Queenie K-G Tan, Damaris N Lorenzo
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nature genetics 53 (7) (2021)
Daphne Lehalle, Pierre Vabres, Arthur Sorlin, Tatjana Bierhals, Magali Avila, Virginie Carmignac, Martin Chevarin, Erin Torti, Yuichi Abe, Tobias Bartolomaeus, Jill Clayton-Smith, Benjamin Cogné, Ivon Cusco, Laurence Duplomb, Eveline De Bont, Yannis Duffourd, Floor Duijkers, Orly Elpeleg, Aviva Fattal, David Geneviève, Maria J Guillen Sacoto, Anne Guimier, David J Harris, Maja Hempel, Bertrand Isidor, Thibaud Jouan, Paul Kuentz, Eriko Koshimizu, Klaske Lichtenbelt, Valerie Loik Ramey, Miriam Maik, Sakoto Miyakate, Yoshiko Murakami, Laurent Pasquier, Helio Pedro, Laurie Simone, Krista Sondergaard-Schatz, Judith St-Onge, Julien Thevenon, Irene Valenzuela, Rami Abou Jamra, Koen van Gassen, Mieke M van Haelst, Silvana van Koningsbruggen, Edgard Verdura, Christa Whelan Habela, Pia Zacher, Jean-Baptiste Rivière, Christel Thauvin-Robinet, Joerg Betschinger, Laurence Olivier-Faivre
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. Journal of medical genetics 57 (12) (2020)
Benjamin Cogné, Jamal-Eddine Bouameur, Gaëlle Hayot, Xenia Latypova, Sundararaghavan Pattabiraman, Amandine Caillaud, Karim Si-Tayeb, Thomas Besnard, Sébastien Küry, Caroline Chariau, Anne Gaignerie, Laurent David, Philippe Bordure, Daniel Kaganovich, Stephane Bezieau, Christelle Golzio, Thomas M Magin, Bertrand Isidor
A dominant vimentin variant causes a rare syndrome with premature aging. European journal of human genetics : EJHG 28 (9) (2020)
Alexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson, null null, null null
SETD1B-associated neurodevelopmental disorder. Journal of medical genetics 58 (3) (2020)

Benjamin Cogné.css-eqlu8i{font-size:small;padding-left:4px;} (Benjamin Cogne)

Publication Activity (10 Years)

Top Topics

Top Venues

Benjamin Cogné (Benjamin Cogne)