Selected Publications

Carli S, Levarlet A, Diodato D, Bertini ES, Martinelli D, Malandrini A, Lopergolo D, Gallus GN, Ganetzky R, La Morgia C, Carelli V, Primiano G, Domínguez-González C, Serrano-Lorenzo P, Martín MA, Ardissone A, Lamperti C, Nicoletta V, Klopstock T, Distelmaier F, Zeng L, Büchner B, Mancuso M, Schuelke M, Prigione A, Garone C: Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8. Neurology 104(7): e213462, Apr 2025 Notes: doi: 10.1212/WNL.0000000000213462. Epub 2025 Mar 20.

Demczko MM, Ganetzky RD, Tormey C, Ku BC, Blowey B, Lavelle J, Goldstein A: Improving acute care for Primary Mitochondrial Disease: Development of a publicly available clinical care pathway. Mol Genet Metab 144(4): 109058, Apr 2025 Notes: doi: 10.1016/j.ymgme.2025.109058. Epub 2025 Feb 21.

Zerafati-Jahromi G, Oxman E, Hoang HD, Charng W, Kotla T, Yuan W, Ishibashi K, Sebaoui S, Luedtke K, Winrow B, Ganetzky RD, Ruiz A, Manso-Basúz C, Spataro N, Kannu P, Athey T, Peroutka C, Barnes C, Sidlow R, Anadiotis G, Magnussen K, Valenzuela I, Moles-Fernandez A, Berger S, Grant CL, Vilain E, Arnadottir GA, Sulem P, Sulem TS, Stefansson K, Massey S, Ginn N, Poduri A, D'Gama AM, Valentine R, Trowbridge SK, Murali CN, Franciskovich R, Tran Y, Webb BD, Keppler-Noreuil KM, Hall AL, McGivern B, Monaghan KG, Sacoto MJG, Baldridge D, Silverman GA, Sonika Dahiya S, Turner TN, Schedl T, Corbin JG, Pak SC, Zohn IE, Gurnett CA: Sequence variants in HECTD1 result in a variable neurodevelopmental disorder. Am J Hum Genet 112(3): 537-553, Mar 2025 Notes: doi: 10.1016/j.ajhg.2025.01.001. Epub 2025 Jan 28.

Cheung ACT, Di Pietro E, Argyriou C, Bareke E, D'Souza Y, Dua Puri R, Muhammed Shabeer P, Ganetzky R, Goldstein A, Vanderver A, Mohan S, Majewski J, Yergeau C, Braverman N: Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders. Mol Genet Metab 145(1): 109080, Mar 2025 Notes: doi: 10.1016/j.ymgme.2025.109080. Online ahead of print.

Ganetzky R, Stanley KD, MacMullen LE, George-Sankoh I, Wang J, Goldstein A, Xiao R, Falk MJ: Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS). Genet Med Page: 101386, Feb 2025 Notes: doi: 10.1016/j.gim.2025.101386. Online ahead of print.

Ivaniuk A, Anselm IA, Bowen A, Cohen BH, Eminoglu FT, Estrella J, Gallagher EC, Ganetzky RD, Gannon J, Gorman GS, Greene C, Gropman AL, Haas RH, Hirano M, Kapoor S, Karaa A, Koenig MK, Kornblum C, Kose E, Larson A, Lichter-Konecki U, Lopriore P, Michelangelo Mancuso M, McFarland R, Myat Moe A, Morava E, Ng YS, Saneto RP, Scaglia F, Sue CM, Tarnopolsky M, Walker MA, Parikh S; as the Hong Kong Mitochondrial Diseases Interest Group; Cheuk-Wing F, Wong T, Belaramani K, Chan C, Chan W, Chan WL, Cheung H, Cheung K, Chang S, Cheung S, Cheung T, Cheung Y, Josephine Chong SJ, Chow CJ, Chung HB, Fan SF, Fok WJ, Fong K, Fung TS, Hui K, Hui T, Hui J, Ko CH, Kwan M, Kwok MA, Kwok SJ, Lai M, Lam Y, Lam C, Lau M, Law CE, Law H, Lee W, Lee HH, Leung K, Leung K, Li S, Ling TS, Liu KT, Lo F, Lui C, Luk C, Luk H, Ma C, Ma K, Ma K, Mew Y, Mo A, Hg S, Poon WG, Sheng B, Szeto CC, Tai ST, Tang J, Tse CA, Tsung LL, Wong HJ, Wong WM, Wong K, Wong SS, Wong CV, Wong WS, Wong CF, Wu S, Wu HJ Yau M, Yau KE, Yeung W, Yeung HJ, Yip KE, Wu H, Young PT, Yuan G, Yuen YL, Yuen C: Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey. Neurology 104(4): e209779, Feb 2025 Notes: doi: 10.1212/WNL.0000000000209779. Epub 2025 Jan 30.

Christian T, Maharjan S, Yin S, Yamaki Y, Masuda I, Li F, Muraresku C, Clever S, Ganetzky RD, Hou Y: A kinetic model for compound heterozygous pathogenic variants in Tyrosyl-tRNA synthetase gene YARS2-Associated neonatal phenotype. J Biol Chem 301(1): 108092, Jan 2025 Notes: doi: 10.1016/j.jbc.2024.108092. Epub 2024 Dec 13.

Gold JI, Strong A, Gold NB, Yudkoff M, Szalda D, Jan S, Schwartz LA, Ganetzky RD: Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine disease. J Inherit Metab Dis 48(1): E12827, Jan 2025 Notes: doi: 10.1002/jimd.12827. Epub 2024 Dec 10.

Christian T, Maharjan S, Yin S, Yamaki Y, Masuda I, Li F, Muraresku C, Clever S, Rebecca D. : A Kinetic Model for Compound Heterozygous Pathogenic Variants in Tyrosyl-tRNA Synthetase Gene YARS2-Associated Neonatal Phenotype. J Biol Chem. Page: 108092, Dec 2024 Notes: doi: 10.1016/j.jbc.2024.108092. Online ahead of print.

Nomakuchi TT, Teferedegn EY, Li D, Muirhead KJ, Dubbs H, Leonard J, Muraresku C, Sergio E, Arnold K, Pizzino A, Skraban CM, Zackai EH, Wang K, Ganetzky RD, Vanderver AL, Ahrens-Nicklas RC, Bhoj EJ.: Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes. Am J Med Genet A. 194(12): e63817, Dec 2024 Notes: doi: 10.1002/ajmg.a.63817. Epub 2024 Jul 19.