Article
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Nature genetics - 1 Jan 2026
Quinodoz Mathieu, Rodenburg Kim, Cvackova Zuzana, Kaminska Karolina, de Bruijn Suzanne E, Iglesias-Romero Ana Belén, Boonen Erica G M, Ullah Mukhtar, Zomer Nick, Folcher Marc, Bijon Jacques, Holtes Lara K, Tsang Stephen H, Corradi Zelia, Freund K Bailey, Shliaga Stefanida, Panneman Daan M, Hitti-Malin Rebekkah J, Ali Manir, AlTalbishi Ala'a, Andréasson Sten, Ansari Georg, Arno Gavin, Astuti Galuh D N, Ayuso Carmen, Ayyagari Radha, Banfi Sandro, Banin Eyal, Barakat Tahsin Stefan, Barboni Mirella T S, Bauwens Miriam, Ben-Yosef Tamar, Bernard Virginie, Birch David G, Biswas Pooja, Blanco-Kelly Fiona, Bocquet Beatrice, Boon Camiel J F, Branham Kari, Bremond-Gignac Dominique, Britten-Jones Alexis Ceecee, Bujakowska Kinga M, Burin des Roziers Cyril, Cadena Elizabeth L, Calzetti Giacomo, Cancellieri Francesca, Cattaneo Luca, Chadderton Naomi, Charbel Issa Peter, Coutinho-Santos Luísa, Daiger Stephen P, De Baere Elfride, De Bruyne Marieke, de la Cerda Berta, De Roach John N, De Zaeytijd Julie, Derks Ronny, Dhaenens Claire-Marie, Dudakova Lubica, Duncan Jacque L, Farrar G Jane, Feltgen Nicolas, Fenner Beau J, Fernández-Caballero Lidia, Ferraz Sallum Juliana M, Gana Simone, Garanto Alejandro, Gardner Jessica C, Gilissen Christian, Gonzàlez-Duarte Roser, Goto Kensuke, Griffiths-Jones Sam, Haack Tobias B, Haer-Wigman Lonneke, Hardcastle Alison J, Hayashi Takaaki, Héon Elise, Hoefsloot Lies H, Hoischen Alexander, Holtan Josephine P, Hoyng Carel B, Ibanez Manuel Benjamin B, Inglehearn Chris F, Iwata Takeshi, Jensson Brynjar O, Jones Kaylie, Kalatzis Vasiliki, Kamakari Smaragda, Karali Marianthi, Kellner Ulrich, Klaver Caroline C W, Knézy Krisztina, Koenekoop Robert K, Kohl Susanne, Kominami Taro, Kühlewein Laura, Lamey Tina M, Leibu Rina, Leroy Bart P, Liskova Petra, Lopez Irma, López-Rodríguez Victor R de J, Mahieu Quinten, Mahroo Omar A, Manes Gaël, Mansard Luke, Martín-Gutiérrez M Pilar, Martins Nelson, Mauring Laura, McKibbin Martin, McLaren Terri L, Meunier Isabelle, Michaelides Michel, Millán José M, Mizobuchi Kei, Mukherjee Rajarshi, Nagy Zoltán Zsolt, Neveling Kornelia, Ołdak Monika, Oorsprong Michiel, Pan Yang, Papachristou Anastasia, Percesepe Antonio, Pfau Maximilian, Pierce Eric A, Place Emily, Ramesar Raj, Ramond Francis, Rasquin Florence Andrée, Rice Gillian I, Roberts Lisa, Rodríguez-Hidalgo María, Ruiz-Ederra Javier, Sabir Ataf H, Sajiki Ai Fujita, Sánchez-Barbero Ana Isabel, Sarma Asodu Sandeep, Sangermano Riccardo, Santos Cristina M, Scarpato Margherita, Scholl Hendrik P N, Sharon Dror, Signorini Sabrina G, Simonelli Francesca, Sousa Ana Berta, Stefaniotou Maria, Stefansson Kari, Stingl Katarina, Suga Akiko, Sulem Patrick, Sullivan Lori S, Szabó Viktória, Szaflik Jacek P, Taurina Gita, Thiadens Alberta A H J, Toomes Carmel, Tran Viet H, Tsilimbaris Miltiadis K, Tsoka Pavlina, Vaclavik Veronika, Vajter Marie, Valeina Sandra, Valente Enza Maria, Valentine Casey, Valero Rebeca, Valleix Sophie, van Aerschot Joseph, van den Born L Ingeborgh, Van Heetvelde Mattias, Verhoeven Virginie J M, Vincent Andrea L, Webster Andrew R, Whelan Laura, Wissinger Bernd, Yioti Georgia G, Yoshitake Kazutoshi, Zenteno Juan C, Zeuli Roberta, Zuleger Theresia, Landau Chaim, Jacob Allan I, Lin Siying, Cremers Frans P M, Lee Winston, Ellingford Jamie M, Stanek David, Roosing Susanne, Rivolta Carlo