A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion

by Witte, Franziska, Ruiz-Orera, Jorge, Mattioli, Camilla Ciolli, Blachut, Susanne, Adami, Eleonora, Schulz, Jana Felicitas, Schneider-Lunitz, Valentin, Hummel, Oliver, Patone, Giannino, Mücke, Michael Benedikt, Šilhavý, Jan, Heinig, Matthias, Bottolo, Leonardo, Sanchis, Daniel, Vingron, Martin, Chekulaeva, Marina, Pravenec, Michal, Hubner, Norbert, van Heesch, Sebastiaan
Published 2022

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

by Zhang, Xiaolei, Walsh, Roddy, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Govind, Risha, Li, Nicholas, Ahmad, Mian, Mazzarotto, Francesco, Roberts, Angharad, Theotokis, Pantazis I., Mazaika, Erica, Allouba, Mona, de Marvao, Antonio, Pua, Chee Jian, Day, Sharlene M., Ashley, Euan, Colan, Steven D., Michels, Michelle, Pereira, Alexandre C., Jacoby, Daniel, Ho, Carolyn Y., Olivotto, Iacopo, Gunnarsson, Gunnar T., Jefferies, John L., Semsarian, Chris, Ingles, Jodie, O’Regan, D.P., Aguib, Yasmine, Yacoub, Magdi H., Cook, Stuart A., Barton, Paul J. R., Bottolo, Leonardo, Ware, James S.
Published 2022