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Papers共 247 篇Author StatisticsCo-AuthorSimilar Experts

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Saturation Genome Editing of RNU4-2 Reveals Distinct Dominant and Recessive Neurodevelopmental Disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji,Elsa Leitão, Ruebena Dawes, Yuyang Chen,Alexander Jm Blakes,Cas Simons, Rocio Rius, Javeria R Alvi,Florence Amblard,Christina Austin-Tse, Sarah Baer, Elsa V Balton,Pierre Blanc,Daniel G Calame,Charles Coutton, Chloe A Cunningham, Nitsuh Dargie,Katrina M Dipple, Haowei Du,Salima El Chehadeh, Ian Glass,Joseph G Gleeson, Olivier Grunewald,Paul Gueguen, Radu Harbuz, Marie-Line Jacquemont,Richard J Leventer, Pierre Marijon, Olfa Messaoud,Tipu Sultan, Christel Thauvin,Catherine Vincent-Delorme,Elif Yilmaz Gulec,Julien Thevenon, Rodrigo Mendez, Daniel G MacArthur,Christel Depienne,Caroline Nava,Nicola Whiffin, Gregory M Findlay
medRxiv the preprint server for health sciences (2025)
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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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Genome Sequencing Identify Chromosome 9 Inversions Disrupting ENG in 2 Unrelated HHT Families
M. Tusseau,M. Eyries,N. Chatron,F. Coulet,A. Guichet,E. Colin,B. Demeer,H. Maillard,J. Thevenon,C. Lavigne, V. Saillour, C. Paris, J. M. De St Agathe, M. Pujalte,A. Guilhem,S. Dupuis-Girod,G. Lesca
European Journal of Medical Geneticspp.104919-104919, (2024)
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Author Statistics

#Papers: 247

#Citation: 6290

H-Index: 46

G-Index: 72

Sociability: 8

Diversity: 3

Activity: 41

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