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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. 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.
The CCT chaperonin and actin modulate the ER and RNA-binding protein condensation during oogenesis and maintain translational repression of maternal mRNA and oocyte quality.
Elaswad MT, Gao M, Tice VE, Bright CG, Thomas GM, Munderloh C, Trombley NJ, Haddad CN, Johnson UG, Cichon AN, Schisa JA. Elaswad MT, et al. Among authors: munderloh c. Mol Biol Cell. 2024 Oct 1;35(10):ar131. doi: 10.1091/mbc.E24-05-0216. Epub 2024 Aug 21. Mol Biol Cell. 2024. PMID: 39167497 Free PMC article.
The CCT chaperonin and actin modulate the ER and RNA-binding protein condensation during oogenesis to maintain translational repression of maternal mRNA and oocyte quality.
Elaswad MT, Gao M, Tice VE, Bright CG, Thomas GM, Munderloh C, Trombley NJ, Haddad CN, Johnson UG, Cichon AN, Schisa JA. Elaswad MT, et al. Among authors: munderloh c. bioRxiv [Preprint]. 2024 Jul 4:2024.07.01.601596. doi: 10.1101/2024.07.01.601596. bioRxiv. 2024. Update in: Mol Biol Cell. 2024 Oct 1;35(10):ar131. doi: 10.1091/mbc.E24-05-0216 PMID: 39005301 Free PMC article. Updated. Preprint.