January 2022

Van Bergen, Nicole J, Hock, Daniella H, Spencer, Lucy, Massey, Massey, Stait, Tegan, Stark, Zornitza, Lunke, Sebastian, Roesley, Ain, Peters, Heidi, Lee, Joy Yaplito, Fevre, Anna Le, Heath, Oliver, Mignone, Cristina, Yang, Joseph Yuan-Mou, Ryan, Monique M, D’arcy, Colleen, Nash, Margot, Smith, Sile, Caruana, Nikeisha ORCID: 0000-0002-0817-1686, Thorburn, David R, Stroud, David A ORCID: 0000-0002-2048-3383, White, Susan M, Christodoulou, John and Brown, Natasha J (2022) Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function. International Journal of Molecular Sciences, 23 (2). ISSN 1661-6596

23 February 2023

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