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Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.
Zarouchlioti C, Efthymiou S, Facchini S, Dominik N, Bhattacharyya N, Liu S, Costa MA, Szabo A, Sadan AN, Jun AS, Bugiardini E, Houlden H, Cortese A, Skalicka P, Dudakova L, Muthusamy K, Cheetham ME, Hardcastle AJ, Liskova P, Tuft SJ, Davidson AE. Zarouchlioti C, et al. Among authors: muthusamy k. EBioMedicine. 2024 Oct;108:105328. doi: 10.1016/j.ebiom.2024.105328. Epub 2024 Sep 14. EBioMedicine. 2024. PMID: 39278108 Free PMC article.
Comparison of capillary electrophoresis-based methods for the analytical characterization of purity and stability of in vitro transcribed mRNA.
Mantri P, Juneja B, Henderson S, Koufos E, Moon Y, Dayeh DM, Di Grandi D, Fu Y, Muthusamy K, Ihnat PM, Palackal N, Pyles EA. Mantri P, et al. Among authors: muthusamy k. J Pharm Biomed Anal. 2024 Oct 15;249:116352. doi: 10.1016/j.jpba.2024.116352. Epub 2024 Jul 14. J Pharm Biomed Anal. 2024. PMID: 39029354 Free article.
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. Lam C, et al. Among authors: muthusamy k. Mol Genet Metab. 2024 Aug;142(4):108509. doi: 10.1016/j.ymgme.2024.108509. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38959600
208 results