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Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Among authors: yuan b. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Leegwater PA, et al. Among authors: yuan bq. Am J Hum Genet. 2001 Apr;68(4):831-8. doi: 10.1086/319519. Epub 2001 Mar 6. Am J Hum Genet. 2001. PMID: 11254442 Free PMC article.
TaSRT2 recognizes a viral protein to activate host immunity by increasing histone acetylation.
Zhong K, Jiang Y, Hu H, Yuan B, Wu M, Tu A, Xu G, Cai L, Liu T, Gao S, Li L, Liao Q, Guo L, Xia Y, Liu P, Cheng Y, Lin L, Zhang C, Chen J, Yang J. Zhong K, et al. Among authors: yuan b. Sci Bull (Beijing). 2024 Apr 27:S2095-9273(24)00313-X. doi: 10.1016/j.scib.2024.04.064. Online ahead of print. Sci Bull (Beijing). 2024. PMID: 38735788 No abstract available.
3,492 results