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Tahsin Stefan Barakat

As seen in: Nature, Wiley Online Library, BioRxiv, Cell Press, The American Journal of Human Genetics
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Articles

Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

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By Daniel Greene, Rodrigo Mendez Verified, Rodrigo Matías Méndez, Jon Lees Verified, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti, Federico Ferraro, Cecilia Mancini, Rachel Schot, Frank Sleutels, Enrico Bertini, Devon E. Bonner, Arjan Bouman, Alice Brooks, Kimberly Ezell, Natalia Gomez-Ospina, Michael F. O’Donoghue, Lynette Rives, Vandana Shashi, Rebecca C. Spillmann, Mohamed Wafik, Kathleen Freson, Tahsin Stefan Barakat, Marco Tartaglia, Jonathan Bernstein, Andrew Mumford, Matthew Wheeler, Ernest Turro
| Nature Verified
Correction to: Nature Genetics https://doi.org/10.1038/s41588-026-02539-5, published online 30 March 2026. In the version of the article initially published, in Fig. 5a, the arrow at position 52 from “G” to “A” was missing. In Fig. 5b, the arrow at position 8 from “C” to “U” was missing, the “80” label at position 90 should have read “90”, and the “1,160” label at position 160 should have read “160”. These corrections have been made to the HTML and PDF versions of the article.
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Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

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By Daniel Greene, Rodrigo Mendez Verified, Rodrigo Matías Méndez, Jon Lees Verified, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti, Federico Ferraro, Cecilia Mancini, Rachel Schot, Frank Sleutels, Enrico Bertini, Devon E. Bonner, Arjan Bouman, Alice Brooks, Thomas A. Cassini, Kimberly Ezell, Natalia Gomez-Ospina, Michael F. O’Donoghue, Lynette Rives, Vandana Shashi, Rebecca C. Spillmann, Mohamed Wafik, Kathleen Freson, Tahsin Stefan Barakat, Marco Tartaglia, Jonathan Bernstein, Andrew Mumford, Matthew Wheeler, Ernest Turro
| Nature Verified
Abstract We recently showed that mutations in the snRNA genes RNU4-2 and RNU2-2 are prevalent causes of dominant neurodevelopmental disorders (NDDs). Here, by genetic association, we demonstrate the existence of a recessive form of RNU2-2 syndrome.
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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

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By Mathieu Quinodoz, Kim Rodenburg, Karolina Kaminska Verified, Suzanne de Bruijn, Ana Belén Iglesias-Romero, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K Holtes, Stephen Tsang, Zelia Corradi, K. Bailey Freund, Stefanida Shliaga, Daan Panneman, Rebekkah J. Hitti-Malin, Manir Dan Ali, Sten Andreasson, Gavin Arno, Galuh Astuti, Carmen Ayuso, Eyal Banin, Tahsin Stefan Barakat, Mirella Barboni, Miriam Bauwens, Tamar Ben-Yosef, Virginie Bernard, David Birch, Pooja Mittal Biswas, Fiona Blanco-Kelly, Béatrice Bocquet, Camiel Boon, Kari Branham, Dominique Brémond-Gignac, Alexis Ceecee Britten-Jones, Kinga M. Bujakowska, Elizabeth L Cadena, Giacomo Calzetti, Francesca Cancellieri, Luca Cattaneo, Naomi Chadderton, Peter Charbel Issa, Stephen P. Daiger, Elfride De Baere, Marieke De Bruyne, Julie De Zaeytijd, Ronny Derks, Claire-Marie Dhaenens, Lubica Dudakova, Jacque L. Duncan, G. Jane Farrar, Nicolas Feltgen, Beau J. Fenner, Lidia Fernández-Caballero, Simone Gana, Alejandro Garanto, Jessica Gardner Verified, Christian Gilissen, Kensuke Goto, Sam Griffiths-Jones, Tobias B. Haack, Lonneke Haer-Wigman, Alison Hardcastle, Takaaki Hayashi, Elise Heon, Lies H. Hoefsloot, Alexander Hoischen, Carel B. Hoyng, Chris F Inglehearn, Takeshi Iwata, Brynjar O. Jensson, Kaylie Jones, Vasiliki Kalatzis, Marianthi Karali, Ulrich Kellner, Caroline C. W. Klaver, Robert K. Koenekoop, Susanne F. Kohl, Taro Kominami, Laura Kühlewein, Tina M. Lamey, Bart P. Leroy, Petra Liskova, Irma Ribbon Lopez, Irma Hernández López, Omar A. Mahroo, M. Pilar Martin-Gutierrez, Nelson Martins, Laura Mauring, Martin McKibbin, Terri L. McLaren, Isabelle Meunier, Michel Michaelides, Jose Millan, Kei Mizobuchi, Rajarshi Mukherjee, Zoltan Zsolt Nagy, Kornelia Neveling, Monika Ołdak, Yang Pan, Anastasia Papachristou, Antonio Percesepe, Maximilian Pfau, Eric Pierce, Raj Ramesar, Francis Ramond, Florence Rasquin, Gillian I. Rice, Lisa Roberts, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Ataf H. Sabir, Ana Isabel Sánchez-Barbero, Asodu Sandeep Sarma, Riccardo Sangermano, Margherita Scarpato, Dror Sharon, Sabrina Signorini, Francesca Simonelli, Ana Berta Sousa, Maria Stefaniotou, Kari Stefansson, Katarina Stingl, Akiko Suga, Patrick Sulem, Lori Sullivan, Viktória Szabó, Jacek P. Szaflik, Gita Taurina, Carmel Toomes, Viet Tran, Miltiadis Tsilimbaris, Veronika Vaclavik, Marie Vajter, Sandra Valeina, Enza Maria Valente, Casey Valentine, Rebeca Valero, Mattias Van Heetvelde, Andrea L. Vincent, Andrew Webster Verified, Laura Whelan, Bernd Wissinger, Kazutoshi Yoshitake, Juan C Zenteno, Roberta Zeuli, Theresia Zuleger, Chaim Landau, Allan Jacob, Siying Lin, Winston Lee, Jamie M. Ellingford, David Stanek, Susanne Roosing, Zuzana Cvackova, Erica G. M. Boonen, Ala’a AlTalbishi, Georg Ansari, Radha Ayyagari, Sandro Banfi, Luísa Coutinho-Santos, Berta de la Cerda, John N. De Roach, Juliana M. Ferraz Sallum, Roser Gonzàlez-Duarte, Josephine P. Holtan, Smaragda Kamakari, Krisztina Knézy, Rina Leibu, Quinten Mahieu, Gaël Manes, Luke Mansard, Michiel Oorsprong, Ai Fujita Sajiki, Cristina M. Santos, Hendrik P. N. Scholl, Alberta A. H. J. Thiadens, Pavlina Tsoka, Sophie Valleix, Joseph van Aerschot, L. Ingeborgh van den Born, Virginie J. M. Verhoeven, Georgia G. Yioti, Frans P. M. Cremers
| Nature Verified
Abstract Small nuclear RNAs (snRNAs) combine with specific proteins to generate small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. U4 snRNA forms a duplex with U6 and, together with U5, contributes to the tri-snRNP spliceosomal complex. Variants in RNU4-2, which encodes U4, have recently been implicated in neurodevelopmental disorders.
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