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Clinical whole-exome sequencing: are we there yet?
Atwal PS, Brennan ML, Cox R, Niaki M, Platt J, Homeyer M, Kwan A, Parkin S, Schelley S, Slattery L, Wilnai Y, Bernstein JA, Enns GM, Hudgins L. Atwal PS, et al. Among authors: cox r. Genet Med. 2014 Sep;16(9):717-9. doi: 10.1038/gim.2014.10. Epub 2014 Feb 13. Genet Med. 2014. PMID: 24525916 Free 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: cox r. 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.
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.
Yang H, Douglas G, Monaghan KG, Retterer K, Cho MT, Escobar LF, Tucker ME, Stoler J, Rodan LH, Stein D, Marks W, Enns GM, Platt J, Cox R, Wheeler PG, Crain C, Calhoun A, Tryon R, Richard G, Vitazka P, Chung WK. Yang H, et al. Among authors: cox r. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000562. doi: 10.1101/mcs.a000562. Cold Spring Harb Mol Case Stud. 2015. PMID: 27148574 Free PMC article.
Fmo induction as a tool to screen for pro-longevity drugs.
Huang S, Cox RL, Tuckowski A, Beydoun S, Bhat A, Howington MB, Sarker M, Miller H, Ruwe E, Wang E, Li X, Gardea EA, DeNicola D, Peterson W, Carrier JM, Miller RA, Sutphin GL, Leiser SF. Huang S, et al. Among authors: cox rl. Geroscience. 2024 May 24. doi: 10.1007/s11357-024-01207-y. Online ahead of print. Geroscience. 2024. PMID: 38787463
Host defence peptide plectasin targets bacterial cell wall precursor lipid II by a calcium-sensitive supramolecular mechanism.
Jekhmane S, Derks MGN, Maity S, Slingerland CJ, Tehrani KHME, Medeiros-Silva J, Charitou V, Ammerlaan D, Fetz C, Consoli NA, Cochrane RVK, Matheson EJ, van der Weijde M, Elenbaas BOW, Lavore F, Cox R, Lorent JH, Baldus M, Künzler M, Lelli M, Cochrane SA, Martin NI, Roos WH, Breukink E, Weingarth M. Jekhmane S, et al. Among authors: cox r. Nat Microbiol. 2024 May 23. doi: 10.1038/s41564-024-01696-9. Online ahead of print. Nat Microbiol. 2024. PMID: 38783023
3,105 results