23 February 2023

Van Haute, Lindsey ORCID: https://orcid.org/0000-0001-7809-1473, O’Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran ORCID: https://orcid.org/0000-0002-8879-6001, Hock, Daniella H ORCID: https://orcid.org/0000-0002-6940-4420, Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak ORCID: https://orcid.org/0000-0002-4106-409X, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola ORCID: https://orcid.org/0000-0002-6895-8819, Cappuccio, Gerarda, Caruana, Nikeisha ORCID: https://orcid.org/0000-0002-0817-1686, Dominik, Natalia, Goel, Himanshu, Helman, Guy ORCID: https://orcid.org/0000-0002-4784-7423, Houlden, Henry ORCID: https://orcid.org/0000-0002-2866-7777, Lenaers, Guy ORCID: https://orcid.org/0000-0003-2736-3349, Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A, Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio ORCID: https://orcid.org/0000-0002-9871-3126, Rebelo-Guiomar, Pedro ORCID: https://orcid.org/0000-0002-5060-7519, Simons, Cas ORCID: https://orcid.org/0000-0003-3147-8042, Vengalil, Seena ORCID: https://orcid.org/0000-0002-0629-9221, Zaki, Maha S ORCID: https://orcid.org/0000-0001-7840-0002, Ziegler, Alban, Thorburn, David ORCID: https://orcid.org/0000-0002-7725-9470, Stroud, David A ORCID: https://orcid.org/0000-0002-2048-3383, Maroofian, Reza, Christodoulou, John ORCID: https://orcid.org/0000-0002-8431-0641, Gustafsson, Claes ORCID: https://orcid.org/0000-0003-3531-8468, Nalini, Atchayaram, Lochmüller, Hanns, Minczuk, Michal ORCID: https://orcid.org/0000-0001-8242-1420 and Horvath, Rita ORCID: https://orcid.org/0000-0002-9841-170X (2023) TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature Communications, 14. ISSN 2041-1723

22 May 2025

Hock, Daniella H, Caruana, Nikeisha ORCID: https://orcid.org/0000-0002-0817-1686, Semcesen, Liana N, Lake, Nicole J, Formosa, Luke E ORCID: https://orcid.org/0000-0002-7740-6151, Amarasekera, Sumudu SC, Stait, Tegan, Tregoning, Simone, Frajman, Leah E, Bournazos, Adam M, Robinson, David RL, Ball, Megan, Reljic, Boris ORCID: https://orcid.org/0000-0002-4655-8478, Ryder, Bryony, Wallis, Mathew J, Vasudevan, Anand, Beck, Cara, Peters, Heidi, Lee, Joy, Tan, Natalie B, Freckmann, Mary-Louise, Harris, Madeleine, Martin, Ellenore M, McGrath, Pauline, Atthow, Catherine, Elbaum, Yoni, MacArthur, Daniel G, Balasubramaniam, Shanti, Siira, Stefan J, Simons, Cas ORCID: https://orcid.org/0000-0003-3147-8042, Sallevelt, Suzanne CEH, Ghaoui, Roula, Davis, Ryan L, Murray, Sean, Coman, David, Stojanovski, Diana, Filipovska, Aleksandra, Karlaftis, Vasiliki, Attard, Chantal, Monagle, Paul, Samarasinghe, Amanda, Brown, Rosie, Bi, Weimin, Lek, Monkol, McFarland, Robert, Taylor, Robert, Ryan, Michael T, Cooper, Sandra T, Stark, Zornitza, Christodoulou, John ORCID: https://orcid.org/0000-0002-8431-0641, Compton, Alison G, Thorburn, David ORCID: https://orcid.org/0000-0002-7725-9470 and Stroud, David A ORCID: https://orcid.org/0000-0002-2048-3383 (2025) Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases. Genome Medicine, 17 (1). ISSN 1756-994X