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Page 1
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.
Radford EJ, Tan HK, Andersson MHL, Stephenson JD, Gardner EJ, Ironfield H, Waters AJ, Gitterman D, Lindsay S, Abascal F, Martincorena I, Kolesnik-Taylor A, Ng-Cordell E, Firth HV, Baker K, Perry JRB, Adams DJ, Gerety SS, Hurles ME. Radford EJ, et al. Among authors: waters aj. Nat Commun. 2023 Dec 6;14(1):7702. doi: 10.1038/s41467-023-43041-4. Nat Commun. 2023. PMID: 38057330 Free PMC article.
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Waters AJ, Brendler-Spaeth T, Smith D, Offord V, Tan HK, Zhao Y, Obolenski S, Nielsen M, van Doorn R, Murphy JE, Gupta P, Rowlands CF, Hanson H, Delage E, Thomas M, Radford EJ, Gerety SS, Turnbull C, Perry JRB, Hurles ME, Adams DJ. Waters AJ, et al. Nat Genet. 2024 Jul;56(7):1434-1445. doi: 10.1038/s41588-024-01799-3. Epub 2024 Jul 5. Nat Genet. 2024. PMID: 38969833 Free PMC article.
High-resolution functional mapping of RAD51C by saturation genome editing.
Olvera-León R, Zhang F, Offord V, Zhao Y, Tan HK, Gupta P, Pal T, Robles-Espinoza CD, Arriaga-González FG, Matsuyama LSAS, Delage E, Dicks E, Ezquina S, Rowlands CF, Turnbull C, Pharoah P, Perry JRB, Jasin M, Waters AJ, Adams DJ. Olvera-León R, et al. Among authors: waters aj. Cell. 2024 Oct 3;187(20):5719-5734.e19. doi: 10.1016/j.cell.2024.08.039. Epub 2024 Sep 18. Cell. 2024. PMID: 39299233 Free article.
A Pilot Randomized Control Trial Testing a Smartphone-Delivered Food Attention Retraining Program in Adolescent Girls with Overweight or Obesity.
Parker MN, Bloomer BF, Stout JD, Byrne ME, Schvey NA, Brady SM, Chen KY, Nugent AC, Turner SA, Yang SB, Stojek MM, Waters AJ, Tanofsky-Kraff M, Yanovski JA. Parker MN, et al. Among authors: waters aj. Nutrients. 2024 Oct 12;16(20):3456. doi: 10.3390/nu16203456. Nutrients. 2024. PMID: 39458453 Free PMC article. Clinical Trial.
Analyzing the functional effects of DNA variants with gene editing.
Cooper S, Obolenski S, Waters AJ, Bassett AR, Coelho MA. Cooper S, et al. Among authors: waters aj. Cell Rep Methods. 2024 May 20;4(5):100776. doi: 10.1016/j.crmeth.2024.100776. Epub 2024 May 13. Cell Rep Methods. 2024. PMID: 38744287 Free PMC article. Review.
141 results