A novel spliceosomopathy caused by de novo SF3B3 variants
Luciana Musante, Pavel Janos, Giulia Pianigiani, Sara Cappelli, Alessandra Longo, Carolina Alves, Eva Mc Schwaibold, Matias Wagner, Gregory Costain, Run Fridriksdottir, Kari Stefansson, Patrick Sulem, Klaske D Lichtenbelt, Ellen van Binsbergen, Richard H van Jaarsveld, Alfredo Brusco, Lisa Pavinato, Elisa Biamino, Alessandra Spano, Clara C Hildebrandt, Yee-Ming Chan, Emily Groopman, Michal Berkenstadt, Daniel Koboldt, Rachel Williamson, Han G Brunner, Lisenka Elm Vissers, Pernille M Torring, Qin Hao, Bruce D Gelb, Elizabeth Goldmuntz, Kristen Reed, Emma C Bedoukian, Davide Vecchio, Emanuela Salzano, Maria Piccione, Caterina Zanus, Catia Mio, Evan E Eichler, Tianyun Wang, Wesley G Patterson, Kameryn M Butler, Mattie Piotrowski, Sandra Mercier, Benjamin Cogné, Ingrid M Wentzensen, Emanuele Buratti, Alessandra Magistrato, Flavio Faletra
Genome Medicine, 2026, vol. 18
Correction to
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B A de Vries, Richard H van Jaarsveld, Saskia M J Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, Francois Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J Prijoles, Roger E Stevenson, David B Everman, Wesley G Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J Benke, María Soledad Lopez Garcia, Renee Perrier, Sergio B Sousa, Pedro M Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A Schmanski, Omar Abdul-Rahman, Christophe Philippe, Ange-Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J Smits, Livia Garavelli, Stefano G Caraffi, Francesca Peluso, Daniëlle G M Bosch,
American Journal of Human Genetics, 2025, vol. 112, p.2814
Significance of incidental copy number variants in the Duchenne muscular dystrophy gene
Ieke B Ginjaar, Marjolein Kriek, Mariëtte J V Hoffer, Renske Oegema, Ellen van Binsbergen, Karin E M Diderich, Laura J C M van Zutven, Floor A M Duijkers, Alida C Knegt, Corrie E Erasmus, Nicole de Leeuw, Joke B G M Verheij, Trijnie Dijkhuizen, Hermine A van Duyvenvoorde
Neuromuscular Disorders, 2025, vol. 54
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, Marketa Vlckova, Sarka Bendova, Kristin G Monaghan, Lisa M Dyer, Yanmin Chen, Deanna Alexis Carere, Emma A M Te Bogt, Heather Fisher, Angela E Scheuerle, Stephanie Riley, Mahim Jain, Weiyi Mu, Joann N Bodurtha, Albertien M van Eerde, Marijn F Stokman, Nicola Longo, Meena Balasubramanian, Michael Spiller, Gregory Costain, Charlotte von der Lippe, Kristian Tveten, Marianne Jortveit, Øystein L Holla, Bertrand Isidor, Benjamin Cogné, Kevin E Glinton, Blake Vuocolo, Roberta Ann Sierra, Brad Angle, Kelly Bontempo, Klaas Koop, Rachel Rabin, John Pappas, David A Staffenberg, Pascal Joset, Peter Miny, Isabel Filges, Abdulrazak Alali, Kara Vitalone, Jill A Rosenfeld, Weimin Bi, Samuel Bradbrook, Renee Perrier, Subhadra Ramanathan, June-Anne Gold, María Palomares Bralo, María Ángeles Gómez-Cano, Ann Haskins Olney, Shelly Nielsen, Alban Ziegler, Dominique Bonneau, Clément Prouteau, Ange-Line Bruel, Charlotte Caille-Benigni, Laëtitia Lambert, Andrea C Yu, Nathaniel H Robin, Dana Goodloe, Jan Fischer, Joseph Porrmann, Yvonne D Hennig, Rami Abou Jamra, Isabella Herman, Ivy R Johnson, Lucas Hérissant, Guillaume Jouret, Koen L I van Gassen, Ellen van Binsbergen, Bert van der Zwaag, Alwin Kamermans, Renske Oegema, Zdenek Sedlacek, Michaela Fenckova, Richard H van Jaarsveld
Genetics in medicine : official journal of the American College of Medical Genetics, 2025, vol. 27
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy
Kohji Kato, Yosuke Nishio, Kirsty J McMillan, Aljazi Al-Maraghi, Hester Y Kroes, Mohamed S Abdel-Hamid, Emma Jones, Shrestha Shaw, Aya Yoshida, Shiomi Otsuji, Yuka Murofushi, Waleed Aamer, Ajaz A Bhat, Jehan AlRayahi, Ammira S Al-Shabeeb Akil, Elbay Aliyev, Ellen van Binsbergen, Etienne J Janssen, Kazi Mahnaz Mehrin, Hisashi Oishi, Ryosuke Kobayashi, Takuro Horii, Izuho Hatada, Akihiko Saito, Mitsuharu Hattori, Yoshihiko Kawano, Philip A Lewis, Kate J Heesom, Takeshi Takarada, Kazunobu Sawamoto, Masaki Matsushita, Tomoo Ogi, Rebeka Butkovic, Chris Danson, Kevin A Wilkinson, Khalid A Fakhro, Maha S Zaki, Shinji Saitoh, Peter J Cullen
Science translational medicine, 2025, vol. 17
Brain malformations and seizures by impaired chaperonin function of TRiC
Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil Zajt, Dimah Hasan, Ting-Ting Lee, Elisabetta Flex, Andreas Hentschel, A Micheil Innes, Bixia Zheng, Dong Sun Julia Suh, Cordula Knopp, Eva Lausberg, Jeremias Krause, Xiaomeng Zhang, Pamela Trapane, Riley Carroll, Martin McClatchey, Andrew E Fry, Lisa Wang, Sebastian Giesselmann, Hieu Hoang, Dustin Baldridge, Gary A Silverman, Francesca Clementina Radio, Enrico Bertini, Andrea Ciolfi, Katherine A Blood, Jean-Madeleine de Sainte Agathe, Perrine Charles, Gaber Bergant, Goran Čuturilo, Borut Peterlin, Karin Diderich, Haley Streff, Laurie Robak, Renske Oegema, Ellen van Binsbergen, John Herriges, Carol J Saunders, Andrea Maier, Stefan Wolking, Yvonne Weber, Hanns Lochmüller, Stefanie Meyer, Alberto Aleman, Kiran Polavarapu, Gael Nicolas, Alice Goldenberg, Lucie Guyant, Kathleen Pope, Katherine N Hehmeyer, Kristin G Monaghan, Annegret Quade, Thomas Smol, Roseline Caumes, Sarah Duerinckx, Chantal Depondt, Wim Van Paesschen, Claudine Rieubland, Claudia Poloni, Michel Guipponi, Severine Arcioni, Marije Meuwissen, Anna C Jansen, Jessica Rosenblum, Tobias B Haack, Miriam Bertrand, Lea Gerstner, Janine Magg, Olaf Riess, Jörg B Schulz, Norbert Wagner, Martin Wiesmann, Joachim Weis, Thomas Eggermann, Matthias Begemann, Andreas Roos, Martin Häusler, Tim Schedl, Marco Tartaglia, Juliane Bremer, Stephen C Pak, Judith Frydman, Miriam Elbracht, Ingo Kurth
Science (New York, N.Y.), 2024, vol. 386, p.516-525