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Papers共 71 篇Author StatisticsCo-AuthorSimilar Experts

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Dominant Variants in Major Spliceosome U4 and U5 Small Nuclear RNA Genes Cause Neurodevelopmental Disorders Through Splicing Disruption
Caroline Nava, Benjamin Cogne, Amandine Santini,Elsa Leitão,François Lecoquierre, Yuyang Chen,Sarah L Stenton,Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser,Boris Keren, Anne Faudet,Sylvie Forlani, Marie Faoucher, Kevin Uguen,Konrad Platzer,Alexandra Afenjar, Jean-Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoit Arveiler,Tania Attie-Bitach, Marion Aubert Mucca, Guillaume Banneau,Tahsin Stefan Barakat,Giulia Barcia,Stéphanie Baulac, Claire Beneteau, Fouzia Benkerdou, Virginie Bernard,Stéphane Bézieau,Dominique Bonneau,Marie-Noelle Bonnet-Dupeyron, Simon Boussion,Odile Boute, Elise Brischoux-Boucher, Samantha J Bryen,Julien Buratti, Tiffany Busa,Almuth Caliebe,Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon,Perrine Charles,John Christodoulou,Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault,Thomas Courtin, Madeline Couse,Charles Coutton, Isabelle Creveaux, Alissa M D'Gama,Benjamin Dauriat, Jean-Madeleine de Sainte Agathe,Giulia Del Gobbo, Andrée Delahaye-Duriez, Julian Delanne, Anne-Sophie Denommé-Pichon, Anne Dieux-Coeslier, Laura Do Souto Ferreira, Martine Doco-Fenzy, Stephan Drukewitz, Véronique Duboc,Christèle Dubourg,Yannis Duffourd, David Dyment,Salima El Chehadeh, Monique Elmaleh,Laurence Faivre, Samuel Fennelly, Hanna Fischer,Mélanie Fradin, Camille Galludec Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce-Samar,Alice Goldenberg, Romain Gonfreville Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras,John M Greally, Bianca Greiten, Paul Gueguen,Anne-Marie Guerrot,Saurav Guha,Anne Guimier,Tobias B Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz, Madeleine Harris,Julia Hentschel,Bénédicte Héron,Marc-Phillip Hitz,A Micheil Innes, Vincent Jadas, Louis Januel, Nolwenn Jean-Marçais,Vaidehi Jobanputra, Florence Jobic, Ludmila Jornea, Céline Jost,Sophie Julia,Frank J Kaiser, Daniel Kaschta, Sabine Kaya, Petra Ketteler, Bochra Khadija,Fabian Kilpert,Cordula Knopp,Florian Kraft, Ilona Krey, Marilyn Lackmy,Fanny Laffargue,Laetitia Lambert, Ryan Lamont,Vincent Laugel, Steven Laurie, Julie L Lauzon, Louis Lebreton,Marine Lebrun, Marine Legendre,Eric Leguern,Daphné Lehalle,Elodie Lejeune,Gaetan Lesca, Marion Lesieur-Sebellin, Jonathan Levy, Agnès Linglart,Stanislas Lyonnet, Kevin Lüthy, Alan S Ma, Corinne Mach,Jean-Louis Mandel, Lamisse Mansour-Hendili, Julien Marcadier, Victor Marin, Henri Margot, Valentine Marquet, Angèle May,Johannes A Mayr, Catherine Meridda, Vincent Michaud,Caroline Michot, Gwenael Nadeau,Sophie Naudion, Laetitia Nguyen,Mathilde Nizon, Frédérique Nowak,Sylvie Odent, Valerie Olin, Ikeoluwa A Osei-Owusu,Matthew Osmond,Katrin Õunap,Laurent Pasquier,Sandrine Passemard, Melissa Pauly, Olivier Patat, Marine Pensec, Laurence Perrin-Sabourin,Florence Petit, Christophe Philippe, Marc Planes,Annapurna Poduri,Céline Poirsier, Antoine Pouzet, Bradley Prince,Clément Prouteau,Aurora Pujol,Caroline Racine, Mélanie Rama, Francis Ramond, Kara Ranguin, Margaux Raway,André Reis,Mathilde Renaud,Nicole Revencu, Anne-Claire Richard, Lucile Riera-Navarro, Rocio Rius,Diana Rodriguez, Agustí Rodriguez-Palmero, Sophie Rondeau, Annika Roser-Unruh, Christelle Rougeot Jung,Hana Safraou,Véronique Satre,Pascale Saugier-Veber, Clément Sauvestre,Elise Schaefer, Wanqing Shao,Ina Schanze, Jan-Ulrich Schlump, Agatha Schlüter Martin,Caroline Schluth-Bolard,Sarah Schuhmann,Christopher Schröder, Monisha Sebastin,Sabine Sigaudy,Malte Spielmann,Marta Spodenkiewicz, Laura St Clair, Julie Steffann,Radka Stoeva,Harald Surowy, Mark A Tarnopolsky, Calina Todosi,Annick Toutain, Frédéric Tran Mau-Them, Astrid Unterlauft, Julien Van-Gils,Clémence Vanlerberghe,Georgia Vasileiou,Gabriella Vera, André Verdel,Alain Verloes, Yoann Vial,Cédric Vignal,Marie Vincent,Catherine Vincent-Delorme, Aline Vincent-Devulder,Antonio Vitobello,Sacha Weber,Marjolaine Willems, Khaoula Zaafrane-Khachnaoui,Pia Zacher, Lena Zeltner,Alban Ziegler,Wojciech P Galej,Hélène Dollfus, Christel Thauvin, Kym M Boycott, Pierre Marijon, Alban Lermine,Valérie Malan,Marlène Rio,Alma Kuechler,Bertrand Isidor,Séverine Drunat, Thomas Smol,Nicolas Chatron,Amélie Piton, Gael Nicolas,Matias Wagner,Rami Abou Jamra,Delphine Héron,Cyril Mignot, Pierre Blanc,Anne O'Donnell-Luria,Nicola Whiffin,Camille Charbonnier, Clément Charenton,Julien Thevenon,Christel Depienne
Nature geneticsno. 6 (2025): 1374-1388
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Artificial Intelligence-Driven Genotype–epigenotype–phenotype Approaches to Resolve Challenges in Syndrome Diagnosticsresearch in Context
Christopher C.Y. Mak,Hannah Klinkhammer,Sanaa Choufani, Nikola Reko, Angela K. Christman, Elise Pisan, Martin M.C. Chui, Mianne Lee, Fiona Leduc,Jennifer C. Dempsey, Pedro A. Sanchez-Lara, Hannah M. Bombei, John A. Bernat,Laurence Faivre, Frederic Tran Mau-Them, Irene Valenzuela Palafoll,Natalie Canham,Ajoy Sarkar,Yuri A. Zarate,Bert Callewaert, Ewelina Bukowska-Olech,Aleksander Jamsheer,Andreas Zankl,Marjolaine Willems, Laura Duncan,Bertrand Isidor, Benjamin Cogne,Odile Boute,Clémence Vanlerberghe,Alice Goldenberg, Elliot Stolerman, Karen J. Low, Vianney Gilard,Jeanne Amiel, Angela E. Lin,Christopher T. Gordon,Dan Doherty, Peter M. Krawitz,Rosanna Weksberg, Tzung-Chien Hsieh,Brian H.Y. Chung
EBioMedicine (2025): 105677
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Bi-allelic MED16 Variants Cause a MEDopathy with Intellectual Disability, Motor Delay, and Craniofacial, Cardiac, and Limb Malformations
Charlotte Guillouet, Valeria Agostini,Geneviève Baujat, Dario Cocciadiferro,Tommaso Pippucci,Marion Lesieur-Sebellin, Mathieu Georget,Ulrich Schatz,Christine Fauth,Raymond J Louie, Curtis Rogers, Jessica M Davis,Vassiliki Konstantopoulou,Johannes A Mayr,Arjan Bouman,Martina Wilke,Grace E VanNoy,Eleina M England, Kristen L Park, Kathleen Brown,Margarita Saenz,Antonio Novelli,Maria Cristina Digilio, Gioia Mastromoro, Mauro Ciro Antonio Rongioletti,Gerardo Piacentini,Rauan Kaiyrzhanov, Sughra Guliyeva, Lala Hasanova,Deborah Shears, Ishita Bhatnagar,Karen Stals, Oliver Klaas,Judit Horvath, University of Washington Center for Mendelian Genomics, Patrice Bouvagnet,P Dane Witmer, Gretchen MacCarrick, Katarina Cisarova,Jean-Marc Good, Svetlana Gorokhova,Odile Boute, Thomas Smol,Ange-Line Bruel,Olivier Patat, Julia R Broadbent, Tiong Y Tan, Natalie B Tan,Stanislas Lyonnet, Tiffany Busa, Claudio Graziano,Jeanne Amiel,Christopher T Gordon
American journal of human geneticsno. 4 (2025): 829-845
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Artificial Intelligence-Driven Genotype-Epigenotype-phenotype Approaches to Resolve Challenges in Syndrome Diagnostics
Christopher C Y Mak,Hannah Klinkhammer,Sanaa Choufani, Nikola Reko, Angela K Christman, Elise Pisan, Martin M C Chui, Mianne Lee, Fiona Leduc,Jennifer C Dempsey, Pedro A Sanchez-Lara, Hannah M Bombei, John A Bernat,Laurence Faivre, Frederic Tran Mau-Them, Irene Valenzuela Palafoll,Natalie Canham,Ajoy Sarkar,Yuri A Zarate,Bert Callewaert, Ewelina Bukowska-Olech,Aleksander Jamsheer,Andreas Zankl,Marjolaine Willems, Laura Duncan,Bertrand Isidor, Benjamin Cogne,Odile Boute,Clémence Vanlerberghe,Alice Goldenberg, Elliot Stolerman, Karen J Low, Vianney Gilard,Jeanne Amiel, Angela E Lin,Christopher T Gordon,Dan Doherty, Peter M Krawitz,Rosanna Weksberg, Tzung-Chien Hsieh,Brian H Y Chung
EBioMedicine (2025): 105677-105677
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Author Statistics

#Papers: 71

#Citation: 2374

H-Index: 23

G-Index: 48

Sociability: 7

Diversity: 2

Activity: 11

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