Hock, Daniella H

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Hock, Daniella H, Caruana, Nikeisha ORCID logoORCID: https://orcid.org/0000-0002-0817-1686, Semcesen, Liana N, Lake, Nicole J, Formosa, Luke E ORCID logoORCID: 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 logoORCID: 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 logoORCID: 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 logoORCID: https://orcid.org/0000-0002-8431-0641, Compton, Alison G, Thorburn, David ORCID logoORCID: https://orcid.org/0000-0002-7725-9470 and Stroud, David A ORCID logoORCID: 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

Van Hove, Johan LK, Friederich, Marisa W, Hock, Daniella H ORCID logoORCID: https://orcid.org/0000-0002-6940-4420, Stroud, David A ORCID logoORCID: https://orcid.org/0000-0002-2048-3383, Caruana, Nikeisha ORCID logoORCID: https://orcid.org/0000-0002-0817-1686, Christians, Uwe ORCID logoORCID: https://orcid.org/0000-0001-7297-147X, Schniedewind, Björn, Michel, Cole R, Reisdorph, Richard ORCID logoORCID: https://orcid.org/0000-0003-3162-0571, Lopez Gonzalez, Edwin DJ, Brenner, Charles ORCID logoORCID: https://orcid.org/0000-0002-4955-3226, Donovan, Tonia E, Lee, Jessica C, Chatfield, Kathryn C, Larson, Austin A, Baker, Peter Russell, McCandless, Shawn E ORCID logoORCID: https://orcid.org/0000-0001-5719-1520 and Moore Burk, Meghan F (2024) ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis. Mitochondrion, 78. ISSN 1567-7249

Blue, Elizabeth E, Huang, Samuel J, Khan, Alyna, Golden-Grant, Katie, Boyd, Brenna, Rosenthal, Elisabeth A, Gillentine, Madelyn A, Fleming, Leah R, Adams, David R, Wolfe, Lynne, Allworth, Aimee, Bamshad, Michael J, Caruana, Nikeisha ORCID logoORCID: https://orcid.org/0000-0002-0817-1686, Chanprasert, Sirisak, Chen, Jingheng, Dargie, Nitsuh, Doherty, Daniel, Friederich, Marisa W, Hisama, Fuki M, Horike-Pyne, Martha, Lee, Jessica C, Donovan, Tonia E, Hock, Daniella H, Leppig, Kathleen A, Miller, Danny E, Mirzaa, Ghayda, Ranchalis, Jane, Raskind, Wendy H, Michel, Cole R, Reisdorph, Richard, Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Stroud, David A ORCID logoORCID: https://orcid.org/0000-0002-2048-3383, Sybert, Virginia P, Wener, Mark H, Stergachis, Andrew B, Lam, Christina T, Jarvik, Gail P, Dipple, Katrina A, Van Hove, Johan LK and Glass, Ian A (2024) Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts. Rare, 2. ISSN 2950-0087

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

Robinson, David RL, Hock, Daniella H, Muellner-Wong, Linden, Kugapreethan, Roopasingam, Reljic, Boris ORCID logoORCID: https://orcid.org/0000-0002-4655-8478, Surgenor, Elliot E, Rodrigues, Carlos HM, Caruana, Nikeisha ORCID logoORCID: https://orcid.org/0000-0002-0817-1686 and Stroud, David A ORCID logoORCID: https://orcid.org/0000-0002-2048-3383 (2022) Applying Sodium Carbonate Extraction Mass Spectrometry to Investigate Defects in the Mitochondrial Respiratory Chain. Frontiers in Cell and Developmental Biology, 10. pp. 1-16. ISSN 2296-634X

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