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论文共 288 篇作者统计合作学者相似作者

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Detecting Monogenic Obesity: A Systematic Exome-Wide Workup of over 500 Individuals
Robert Künzel, Helene Faust,Linnaeus Bundalian,Matthias Blüher,Mariami Jasaszwili,Anna Kirstein, Albrecht Kobelt,Antje Körner,Denny Popp, Eric Wenzel,Rami Abou Jamra,Johannes R Lemke, Torsten Schöneberg,Robert Stein,Antje Garten,Diana Le Duc
International journal of obesity (2005) (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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Heterozygous UBR5 Variants Result in a Neurodevelopmental Syndrome with Developmental Delay, Autism, and Intellectual Disability
Pascale Sabeh, Samantha A. Dumas,Claudia Maios, Hiba Daghar, Marek Korzeniowski,Justine Rousseau,Matthew Lines,Andrea Guerin,John J. Millichap,Megan Landsverk,Theresa Grebe,Kristin Lindstrom,Jonathan Strober, Tarik Ait Mouhoub,Christiane Zweier,Michelle Steinraths,Moritz Hebebrand,Bert Callewaert,Rami Abou Jamra, Monika Kautza-Lucht,Meret Wegler,Paul Kruszka,Candy Kumps, Ehud Banne, Marta Biderman Waberski,Anne Dieux,Sarah Raible,Ian Krantz,Livija Medne,Kieran Pechter, Laurent Villard,Renzo Guerrini,Claudia Bianchini,Carmen Barba, Davide Mei, Xavier Blanc, Christine Kallay,Emmanuelle Ranza, Xiao-Ru Yang,Emily O'Heir,Kirsten A. Donald,Serini Murugasen,Zandre Bruwer, Muge Calikoglu, Jennifer M. Mathews,Marion Lesieur-Sebellin, Genevieve Baujat,Nicolas Derive, Tyler Mark Pierson,Jill R. Murrell,Amelle Shillington,Clothilde Ormieres,Sophie Rondeau,Andre Reis, Alberto Fernandez-Jaen,Ping Yee Billie Au,David A. Sweetser,Lauren C. Briere,Nathalie Couque,Laurence Perrin, Jennifer Schymick,Paul Gueguen,Mathilde Lefebvre, Michael Van Andel, Jane Juusola, Stylianos E. Antonarakis, Ethud Banne, J. Alex Parker, Barrington G. Burnett, Philippe M. Campeau
AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2025)
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Identification and Characterization of Short-Chain Dehydrogenase/reductase 3 (DHRS3) Deficiency, a Retinoic Acid Embryopathy of Humans
Akiko Soneda Hashimoto,Jianshi Yu, Christina Williams, Karin Gaudenz, Parisa Varshosaz, Ruonan Zhao, Nageswara Pilli, Tian Liu, Jonathon Russell, Rebecca S Tooze, Stephen R F Twigg,Siddharth Banka, Elizabeth Sweeney, Simon J McGowan, Samantha J L Knight,Jenny C Taylor, Tawfiq Jamal Froukh, M Irene Valenzuela Palafoll, Núria Martínez-Gil, Mar Costa-Roger, Maria Teresa Villarreal-Molina, Esther Lieberman Hernandez,Rami Abou Jamra, Felix Gattermann, Margarete Koch-Hogrebe,Dagmar Wieczorek, Paul A Trainor,Alexander R Moise, Andrew O M Wilkie,Maureen A Kane
Genetics in medicine open (2025): 103427-103427
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HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Clara Houdayer,A Marie Phillips, Marie Chabbert,Jennifer Bourreau,Reza Maroofian,Henry Houlden,Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin,Boris Keren,Perrine Charles, Thomas Smol, Audrey Riquet,Lynn Pais,Anne O'Donnell-Luria, Grace E VanNoy,Allan Bayat,Rikke S Møller,Kern Olofsson,Rami Abou Jamra,Steffen Syrbe,Majed Dasouki,Laurie H Seaver, Jennifer A Sullivan,Vandana Shashi, Fowzan S Alkuraya, Alexis F Poss, J Edward Spence,Rhonda E Schnur,Ian C Forster, Chaseley E Mckenzie,Cas Simons, Min Wang,Penny Snell,Kavitha Kothur, Michael Buckley,Tony Roscioli, Noha Elserafy,Benjamin Dauriat,Vincent Procaccio, Daniel Henrion,Guy Lenaers,Estelle Colin,Nienke E Verbeek, Koen L Van Gassen,Claire Legendre,Dominique Bonneau, Christopher A Reid, Katherine B Howell,Alban Ziegler,Christian Legros
Annals of neurology (2025)
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Diagnosis of Angelman Syndrome, with 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling
Mathis Hildonen, Marco Ferilli, Ilona Krey, Oona Kohnen, Camilla Cappelletti,Konrad Platzer,Andrea Ciolfi,Rami Abou Jamra,Marco Tartaglia,Zeynep Tümer
Clinical genetics (2025)
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Biallelic Loss-of-function Variants in ZNF142 Are Associated with a Robust DNA Methylation Signature Affecting a Limited Number of Genomic Loci
Mathis Hildonen,Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Chadi Al Alam,David J Amor,Tahsin Stefan Barakat,Valérie Benoit, Ohad Shmuel Birk,Bert Callewaert, Ana Cazurro-Gutiérrez, Matthias De Wachter, Martine Doco-Fenzy,Paulino Gómez-Puertas, Trine Bjørg Hammer,Rami Abou Jamra,Rauan Kaiyrzhanov, Shinichi Kameyama,Boris Keren,Christina Kresge, Ilona Krey,Damien Lederer, Iñigo Marcos-Alcalde,Reza Maroofian,Naomichi Matsumoto,Takeshi Mizuguchi, Lip-Hen Moey,Angela Morgan, Francina Munell,Konrad Platzer,Beth A Pletcher, David Ros-Pardo, Lynne Rumping, Katalin Szakszon,Kristof Van Schil, Edgard Verdura,Julie Vogt,Evangeline Wassmer,Mina Zamani,Zeynep Tümer,Marco Tartaglia
European journal of human genetics EJHG (2025)
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作者统计

#Papers: 287

#Citation: 7582

H-Index: 45

G-Index: 81

Sociability: 8

Diversity: 3

Activity: 67

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