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: https://orcid.org/0000-0002-0817-1686, Thorburn, David R, Stroud, David A ORCID: https://orcid.org/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

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