The future of mitochondrial medicine requires both lumping and splitting von Ganetzky, Rebecca D.

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Preventative Strategies in Congenital B12 Deficiency von Ganetzky, Rebecca D.

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8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease von Ganetzky, Rebecca D., Falk, Marni J.

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Becoming a Physician–Scientist: A View Looking Up From Base Camp von Ganetzky, Rebecca D.

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Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation von Ganetzky, Rebecca D., Markhard, Andrew L., Yee, Irene, Clever, Sheila, Cahill, Alan, Shah, Hardik, Grabarek, Zenon, To, Tsz-Leung, Mootha, Vamsi K.

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COXPD9 in an individual from Puerto Rico and literature review von Alsharhan, Hind, Muraresku, Colleen, Ganetzky, Rebecca D.

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MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases von Ganetzky, Rebecca D., Stendel, Claudia, McCormick, Elizabeth M., Zolkipli‐Cunningham, Zarazuela, Goldstein, Amy C., Klopstock, Thomas, Falk, Marni J.

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Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency von Fortin, Olivier, Christoffel, Kelsey, Shoaib, Abdullah B, Venkatesan, Charu, Cilli, Kate, Schroeder, Jason W, Alves, Cesar, Ganetzky, Rebecca D, Fraser, Jamie L

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Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish von Byrnes, James, Ganetzky, Rebecca, Lightfoot, Richard, Tzeng, Michael, Nakamaru-Ogiso, Eiko, Seiler, Christoph, Falk, Marni J.

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Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening von Peretz, Ryan H., Ah Mew, Nicholas, Vernon, Hilary J., Ganetzky, Rebecca D.

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Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature von Wild, K. Taylor, Goldstein, Amy C., Muraresku, Colleen, Ganetzky, Rebecca D.

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Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as... von Wongkittichote, Parith, Pantano, Cassandra, Bogush, Emily, Alves, Cesar Augusto P., Hong, Xinying, He, Miao, Demczko, Matthew M., Ganetzky, Rebecca D., Goldstein, Amy

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Corrigendum to “Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics” [J. Mass Spectrom. Adv. Clin. Lab 31 (2024) 49–58] von Kemperman, Robin H.J., Ganetzky, Rebecca D., Master, Stephen R.

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Cytokine signature profiles in acquired aplastic anemia and myelodysplastic syndromes von XINGMIN FENG, SCHEINBERG, Phillip, WU, Colin O, SAMSEL, Leigh, NUNEZ, Olga, PRINCE, Courtney, GANETZKY, Rebecca D, MCCOY, J. Philip, MACIEJEWSKI, Jaroslaw P, YOUNG, Neal S

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USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis von Barca, Emanuele, Ganetzky, Rebecca D, Potluri, Prasanth, Juanola-Falgarona, Marti, Gai, Xiaowu, Li, Dong, Jalas, Chaim, Hirsch, Yoel, Emmanuele, Valentina, Tadesse, Saba, Ziosi, Marcello, Akman, Hasan O, Chung, Wendy K, Tanji, Kurenai, McCormick, Elizabeth M, Place, Emily, Consugar, Mark, Pierce, Eric A, Hakonarson, Hakon, Wallace, Douglas C, Hirano, Michio, Falk, Marni J

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Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes von Nomakuchi, Tomoki T., Teferedegn, Eden Y., Li, Dong, Muirhead, Kayla J., Dubbs, Holly, Leonard, Jacqueline, Muraresku, Colleen, Sergio, Emily, Arnold, Kaley, Pizzino, Amy, Skraban, Cara M., Zackai, Elaine H., Wang, Kai, Ganetzky, Rebecca D., Vanderver, Adeline L., Ahrens‐Nicklas, Rebecca C., Bhoj, Elizabeth J. K.

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Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet von Bowen, Aaron B., Rapalino, Otto, Jaimes, Camilo, Ratai, Eva‐Maria, Zhong, Yingyi, Thiele, Elizabeth A., Kritzer, Amy, Ganetzky, Rebecca D., Gold, Nina B., Walker, Melissa A.

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Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics von Kemperman, Robin H.J., Ganetzky, Rebecca D., Master, Stephen R.

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Hospitalizations for mitochondrial disease across the lifespan in the U.S von McCormack, Shana E., Xiao, Rui, Kilbaugh, Todd J., Karlsson, Michael, Ganetzky, Rebecca D., Cunningham, Zarazuela Zolkipli, Goldstein, Amy, Falk, Marni J., Damrauer, Scott M.

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Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review von Gold, Jessica I, Gold, Nina B, DeLeon, Diva D, Ganetzky, Rebecca

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