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Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans.
Ni M, Solmonson A, Pan C, Yang C, Li D, Notzon A, Cai L, Guevara G, Zacharias LG, Faubert B, Vu HS, Jiang L, Ko B, Morales NM, Pei J, Vale G, Rakheja D, Grishin NV, McDonald JG, Gotway GK, McNutt MC, Pascual JM, DeBerardinis RJ. Ni M, et al. Among authors: gotway gk. Cell Rep. 2019 Apr 30;27(5):1376-1386.e6. doi: 10.1016/j.celrep.2019.04.005. Cell Rep. 2019. PMID: 31042466 Free PMC article.
Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment.
Abou Haidar L, Harris RC, Pachnis P, Chen H, Gotway GK, Ni M, DeBerardinis RJ. Abou Haidar L, et al. Among authors: gotway gk. Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006295. doi: 10.1101/mcs.a006295. Print 2023 Dec. Cold Spring Harb Mol Case Stud. 2024. PMID: 37709555 Free PMC article.
An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
Cai L, Vu HS, Gu W, Chen H, Franklin J, Haidar LA, Wu Z, Pan C, Cai F, Nguyen P, Ko B, Yang C, Zacharias LG, Sudderth J, Montgomery S, Uhles C, Fisher H, Hudnall J, Hornbuckle C, Quinn C, Michel D, Umaña L, Scheuerle A, McNutt MC, Gotway GK, Afroze B, Ni M, DeBerardinis R. Cai L, et al. Among authors: gotway gk. bioRxiv [Preprint]. 2023 Dec 12:2023.12.11.571124. doi: 10.1101/2023.12.11.571124. bioRxiv. 2023. PMID: 38168314 Free PMC article. Preprint.