Selected Publications

Merkevicius K, Smirnov D, Schlieben LD, Ganetzky R, Feichtinger RG, Jiang H, Fang F, Ebihara T, Murayama K, Ferrera G, Ardissone A, Rokicki D, Wesol-Kucharska D, Schröder S, Bauer P, Bertoli-Avella A, Østergaard E, Freisinger P, Janssen MCH, Wagner M, Abouyousef O, Alhaddad B, AlAbdi L, Alkuraya F, Alston CL, Baghdasaryan A, Barca D, Barić I, Bellusci M, Bevot A, Boltshauser E, Borggraefe I, Bouchereau J, Bruno C, Burnyte B, Calhoun A, Casas K, Coker M, Crushell E, De Lonlay P, Dionisi-Vici C, Distelmaier F, Falk MJ, Ferreira AC, Ferreira CR, Ficicioglu C, Fatma Gokçay G, Häberle J, Heath O, Hellenschmidt A, Hoefele J, Hoffmann GF, Honzik T, Huemer M, Janeiro P, Karaa A, Seher Kasapkara Ç, Kern I, Klepper J, Klopstock T, Knerr I, Koch J, Krumina Z, Lamperti C, Lebigot E, Liu Z, Maier EM, Martinelli D, McFarland R, Mendelsohn B, Molnar MJ, Mundy H, Nassogne MC, Oliveira A, Õunap K, Panicucci C, Parikh S, Peters H, Pichard S, Plecko B, Ramadža DP, Repetto GM, Rivera I, Rodenburg RJ, Rossi A, Schiff M, Seidemann K, Smith WE, Soares S, Siri B, Steinbrucker K, Striano P, Sykut-Cegielska J, Tal G, Taylor RW, Tsiakas K, Kalkan Ucar S, van Konijnenburg EH, Woidy M, Yaplito-Lee J, Yildiz Y, Zenker M, Zsidegh P, Westphal D, Sperl W, Meitinger T, Brown GK, Prokisch H, Mayr JA, Wortmann SB: The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency. Brain Nov 2025 Notes: online ahead of print.

Küry S, Stanton JE, van Woerden GM, Bosc-Rosati A, Hsieh TC, Bray L, Oloudé M, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel FG, Wolfgramm S, Florenceau L, Cuinat S, Marsac S, Verrès Y, Dangoumau A, Poirier L, Wentzensen IM, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter MS, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson LC, Costin C, Abdulrazak A, Jobling RK, Pappas J, Rabin R, Niyazov D, Chun-Hui Tsai A, Kovak K, Beck DB, Malicdan MCV, Adams DR, Wolfe L, Ganetzky RD, Muraresku CC, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Saif HA, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton MJ, Bryson LJ, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Langas SJ, McRae AM, Lessard MK, D'Agostino MD, De Bie I, Wegler M, Abou Jamra R, Kamphausen SB, Bothe V, Potocki L, Olinger E, Sznajer Y, Wiame E, Thompson ML, Schroeder MC, Gooch C, Smith RA, Pandya A, Busch LM, Völker U, Hammer E, Wende K, Cogné B, Isidor B, Meiler J, Ripoll C, Bigou S, Laumonnier F, Hildebrand PW, Eichler EE, McWalter K, Krawitz PM, Roux-Dalvai F, Elgersma Y, Marcoux J, Bousquet MP, Droit A, Poschmann J, Grabrucker AM, Bolduc FV, Bézieau S, Ebstein F, Krüger E.: Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. Nat Commun 16(1): 10545, Nov 2025 Notes: doi: 10.1038/s41467-025-65556-8.

Dore R, Chang CT, Declève A, Brunori G, Ludlam WG, Huang A, Movahedinia M, Damseh NS, Anwar I, Vahidi Mehrjardi MY, Ny A, Khorrami M, Kheirollahi M, Frederiksen H, Eghbal F, Mirjalili MR, Dehghani M, Karimiani EG, Oreshkov S, Alves C, Striano P, Suri M, Martinez-Agosto J, Ansar M, Zahid M, Akram S, Ansar M, Nelson SF; Undiagnosed Diseases Network; Antonarakis SE, Houlden H, Copmans D, Martemyanov KA, Maroofian R: ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy. Genet Med 27(9): 101506, Sept 2025 Notes: doi: 10.1016/j.gim.2025.101506. Epub 2025 Jun 23.

Kobren SN, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Corona RI, Carvalho Neto GV, Willett J, Berselli M, Ronchetti W, Nelson SF, Martinez-Agosto JA, Sherwood R, Krier J, Kohane IS; Undiagnosed Diseases Network; Sunyaev SR: Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations. Nat Commun 16(1): 7267, Aug 2025 Notes: doi: 10.1038/s41467-025-61712-2.

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, May 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 27(5): 101386, May 2025 Notes: doi: 10.1016/j.gim.2025.101386. Online ahead of print.

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.

Weisz-Hubshman M, Burrage LC, Jangam SV, Rosenfeld JA, von Hardenberg S, Bergmann A, Richter MF, Rydzanicz M, Ploski R, Stembalska A, Chung WK, Hernan RR, Lim FY, Brunet T, Syrbe S, Keren B, Heide S, Murdock DR, Dai H, Xia F, Ketkar S, Dawson B, Narayanan V, Graves HK; Undiagnosed Diseases Network; Wangler MF, Bacino C, Lee B: De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genet Med 27(4): 101369, Apr 2025 Notes: doi: 10.1016/j.gim.2025.101369. Epub 2025 Jan 28.

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.