Publications

Van de Vondel L, Lee GS, De Winter J, Matsuzaki S, Sandoval A, Ramirez JF, Monticelli A, Lee S, Horvath R, de Bleecker J, Züchner S, Humphries KM, Baets J, Yoon WH. Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy. JIMD Rep. 2026 Jul;67(4):e70103. doi: 10.1002/jmd2.70103. eCollection 2026 Jul. PubMed PMID: 42266417; PubMed Central PMCID: PMC13244069.

Ezer S, Yanovsky-Dagan S, Granit A, McDougal M, Hwang T, Antman I, Karni R, Yoon WH, Saada A, Inbal A, Harel T. Allele-specific antisense oligonucleotide treatment rescues atad3- associated phenotype in zebrafish. bioRxiv. 2026 May 23;. doi: 10.64898/2026.05.20.726050. PubMed PMID: 42239176; PubMed Central PMCID: PMC13228611.

Pehlivan D, Sandoval A, Maroofian R, Lecoquierre F, Al Shamsi AM, Lee GS, Yesilbas O, Taylor P, McDougal MB, Bahrambeigi V, Aryani O, Ramirez JF, Salih KH, Al Alam C, Morsy H, Hussien H, Omar T, Abdelrazek IM, Brehin AC, Marafi D, Kalayci T, Rahma JA, Talbeya JK, Dabbah H, Verspyck E, Moosavian T, Fatih JM, Mitani T, Akay G, Calame DG, Guerrot AM, Chung WK, Houlden H, Lupski JR, Shalata A, Yoon WH. Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities. Am J Hum Genet. 2026 Mar 5;113(3):548-561. doi: 10.1016/j.ajhg.2026.01.017. Epub 2026 Feb 23. PubMed PMID: 41734767; PubMed Central PMCID: PMC13087469.

Bae T, Park Y, LaGrone A, Suvakov M, Zhang P, Park H, Remmen HV, Lupski JR, Harel T, Kim JJ, Abyzov A, Yoon WH. Allele-specific correction of ATAD3A pathogenic variants via template-free CRISPR-Cas9 editing and gene conversion. bioRxiv. 2025 Oct 24;. doi: 10.1101/2025.10.23.684255. PubMed PMID: 41280066; PubMed Central PMCID: PMC12633334.

Muñoz-Oreja M, Sandoval A, Bruland O, Perez-Rodriguez D, Fernandez-Pelayo U, de Arbina AL, Villar-Fernandez M, Hernández-Eguiazu H, Hernández I, Park Y, Goicoechea L, Pascual-Frías N, Garcia-Ruiz C, Fernandez-Checa J, Martí-Carrera I, Gil-Bea FJ, Hasan MT, Gegg ME, Bredrup C, Knappskog PM, Gereñu-Lopetegui G, Varhaug KN, Bindoff LA, Spinazzola A, Yoon WH, Holt IJ. Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation. Brain.2024 May 3;147(5):1899-1913. doi: 10.1093/brain/awae018. PubMed PMID: 38242545; PubMed Central PMCID: PMC11068212.

Panda A, Suvakov M, Mariani J, Drucker KL, Park Y, Jang Y, Kollmeyer TM, Sarkar G, Bae T, Kim JJ, Yoon WH, Jenkins RB, Vaccarino FM, Abyzov A. Clonally Selected Lines After CRISPR-Cas Editing Are Not Isogenic. CRISPR J. 2023 Apr;6(2):176-182. doi: 10.1089/crispr.2022.0050. PubMed PMID: 37071670; PubMed Central PMCID: PMC10123805.

Whittle EF, Chilian M, Karimiani EG, Progri H, Buhas D, Kose M, Ganetzky RD, Toosi MB, Torbati PN, Badv RS, Shelihan I, Yang H, Elloumi HZ, Lee S, Jamshidi Y, Pittman AM, Houlden H, Ignatius E, Rahman S, Maroofian R, Yoon WH, Carroll CJ. Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities. Genet Med. 2023 Feb;25(2):100332. doi: 10.1016/j.gim.2022.11.001. Epub 2022 Dec 15. PubMed PMID: 36520152; PubMed Central PMCID: PMC9905285.

Chilian M, Vargas Parra K, Sandoval A, Ramirez J, Yoon WH. CRISPR/Cas9-mediated tissue-specific knockout and cDNA rescue using sgRNAs that target exon-intron junctions in Drosophila melanogaster. STAR Protoc. 2022 Sep 16;3(3):101465. doi: 10.1016/j.xpro.2022.101465. eCollection 2022 Sep 16. PubMed PMID: 35719725; PubMed Central PMCID: PMC9204798.

Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A, Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. Am J Hum Genet. 2021 Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19. PubMed PMID: 34800363; PubMed Central PMCID: PMC8715183.

Yap ZY, Park YH, Wortmann SB, Gunning AC, Ezer S, Lee S, Duraine L, Wilichowski E, Wilson K, Mayr JA, Wagner M, Li H, Kini U, Black ED, Monaghan KG, Lupski JR, Ellard S, Westphal DS, Harel T, Yoon WH. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Genome Med. 2021 Apr 12;13(1):55. doi: 10.1186/s13073-021-00873-3. PubMed PMID: 33845882; PubMed Central PMCID: PMC8042885.

Yap ZY, Strucinska K, Matsuzaki S, Lee S, Si Y, Humphries K, Tarnopolsky MA, Yoon WH. A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease. J Inherit Metab Dis. 2021 Mar;44(2):388-400. doi: 10.1002/jimd.12248. Epub 2020 Jun 24. PubMed PMID: 32383294; PubMed Central PMCID: PMC7647956.
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Zhao M, Kao CS, Arndt C, Tran DD, Cho WI, Maksimovic K, Chen XXL, Khan M, Zhu H, Qiao J, Peng K, Hong J, Xu J, Kim D, Kim JR, Lee J, van Bruggen R, Yoon WH, Park J. Knockdown of genes involved in axonal transport enhances the toxicity of human neuromuscular disease-linked MATR3 mutations in Drosophila. FEBS Lett. 2020 Sep;594(17):2800-2818. doi: 10.1002/1873-3468.13858. Epub 2020 Jun 28. PubMed PMID: 32515490.

Gunning AC, Strucinska K, Muñoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Fernandez Pelayo U, Jones AWE, Taylor RW, Misra VK, Yoon WH, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ, Ellard S. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet. 2020 Feb 6;106(2):272-279. doi: 10.1016/j.ajhg.2020.01.007. Epub 2020 Jan 30. PubMed PMID: 32004445; PubMed Central PMCID: PMC7010973.

Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22. PubMed PMID: 29478781; PubMed Central PMCID: PMC6117612.

Selected Publications

Yoon WH, Sandoval H, Nagarkar-Jaiswal S, Jaiswal M, Yamamoto S, Haelterman NA, Putluri N, Putluri V, Sreekumar A, Tos T, Aksoy A, Donti T, Graham BH, Ohno M, Nishi E, Hunter J, Muzny DM, Carmichael J, Shen J, Arboleda VA, Nelson SF, Wangler MF, Karaca E, Lupski JR, Bellen HJ. Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 4;93(1):115-131. Epub 2016 Dec 22. PMID: 28017472, PMCID: PMC5242142

Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 6;99(4):831-845. Epub 2016 Sep 15. PMID: 27640307, PMCID: PMC5065660

Haelterman NA, Yoon WH, Sandoval H, Jaiswal M, Shulman JM, Bellen HJ. A mitocentric view of Parkinson’s disease. Annu Rev Neurosci. 2014;37:137-59. Review. PMID: 24821430, PMCID: PMC4659514

Montell DJ, Yoon WH, Starz-Gaiano M. Group choreography: mechanisms orchestrating the collective movement of border cells. Nat Rev Mol Cell Biol. 2012 Oct;13(10):631-45. PMID: 23000794 PMCID: PMC4099007

Yoon WH, Meinhardt H, Montell DJ. miRNA-mediated feedback inhibition of JAK/STAT morphogen signalling establishes a cell fate threshold. Nat Cell Biol. 2011 Aug 21;13(9):1062-9. PMID: 21857668 PMCID: PMC3167036