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Patient-derived gene and protein expression signatures of NGLY1 deficiency.
Rauscher B, Mueller WF, Clauder-Münster S, Jakob P, Islam MS, Sun H, Ghidelli-Disse S, Boesche M, Bantscheff M, Pflaumer H, Collier P, Haase B, Chen S, Hoffman R, Wang G, Benes V, Drewes G, Snyder M, Steinmetz LM. Rauscher B, et al. Among authors: snyder m. J Biochem. 2022 Feb 21;171(2):187-199. doi: 10.1093/jb/mvab131. J Biochem. 2022. PMID: 34878535
Extensive variation in chromatin states across humans.
Kasowski M, Kyriazopoulou-Panagiotopoulou S, Grubert F, Zaugg JB, Kundaje A, Liu Y, Boyle AP, Zhang QC, Zakharia F, Spacek DV, Li J, Xie D, Olarerin-George A, Steinmetz LM, Hogenesch JB, Kellis M, Batzoglou S, Snyder M. Kasowski M, et al. Among authors: snyder m. Science. 2013 Nov 8;342(6159):750-2. doi: 10.1126/science.1242510. Epub 2013 Oct 17. Science. 2013. PMID: 24136358 Free PMC article.
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium; Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Enns GM, et al. Among authors: snyder m. Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20. Genet Med. 2014. PMID: 24651605 Free PMC article.
Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions.
Grubert F, Zaugg JB, Kasowski M, Ursu O, Spacek DV, Martin AR, Greenside P, Srivas R, Phanstiel DH, Pekowska A, Heidari N, Euskirchen G, Huber W, Pritchard JK, Bustamante CD, Steinmetz LM, Kundaje A, Snyder M. Grubert F, et al. Among authors: snyder m. Cell. 2015 Aug 27;162(5):1051-65. doi: 10.1016/j.cell.2015.07.048. Epub 2015 Aug 20. Cell. 2015. PMID: 26300125 Free PMC article.
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S, Dagan-Rosenfeld O, Zhou W, Sailani MR, Limcaoco P, Colbert E, Avina M, Wheeler J, Craig C, Salins D, Röst HL, Dunn J, McLaughlin T, Steinmetz LM, Bernstein JA, Snyder MP. Rego S, et al. Among authors: snyder mp. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003178. doi: 10.1101/mcs.a003178. Print 2018 Dec. Cold Spring Harb Mol Case Stud. 2018. PMID: 30487145 Free PMC article.
Chromatin Remodeling in Response to BRCA2-Crisis.
Gruber JJ, Chen J, Geller B, Jäger N, Lipchik AM, Wang G, Kurian AW, Ford JM, Snyder MP. Gruber JJ, et al. Among authors: snyder mp. Cell Rep. 2019 Aug 20;28(8):2182-2193.e6. doi: 10.1016/j.celrep.2019.07.057. Cell Rep. 2019. PMID: 31433991 Free PMC article.
2,381 results