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Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK. Lin SJ, et al. Among authors: pourkarimi e. Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35815345
Deep Proteome Analysis Identifies Age-Related Processes in C. elegans.
Narayan V, Ly T, Pourkarimi E, Murillo AB, Gartner A, Lamond AI, Kenyon C. Narayan V, et al. Among authors: pourkarimi e. Cell Syst. 2016 Aug;3(2):144-159. doi: 10.1016/j.cels.2016.06.011. Epub 2016 Jul 21. Cell Syst. 2016. PMID: 27453442 Free PMC article.
Stable-isotope labeling with amino acids in nematodes.
Larance M, Bailly AP, Pourkarimi E, Hay RT, Buchanan G, Coulthurst S, Xirodimas DP, Gartner A, Lamond AI. Larance M, et al. Among authors: pourkarimi e. Nat Methods. 2011 Aug 28;8(10):849-51. doi: 10.1038/nmeth.1679. Nat Methods. 2011. PMID: 21874007 Free PMC article.
19 results