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Page 1
The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes.
Tokolyi A, Persyn E, Nath AP, Burnham KL, Marten J, Vanderstichele T, Tardaguila M, Stacey D, Farr B, Iyer V, Jiang X, Lambert SA, Noell G, Quail MA, Rajan D, Ritchie SC, Sun BB, Thurston SAJ, Xu Y, Whelan CD, Runz H, Petrovski S, Gaffney DJ, Roberts DJ, Di Angelantonio E, Peters JE, Soranzo N, Danesh J, Butterworth AS, Inouye M, Davenport EE, Paul DS. Tokolyi A, et al. Among authors: vanderstichele t. Nat Genet. 2025 Mar;57(3):616-625. doi: 10.1038/s41588-025-02096-3. Epub 2025 Mar 4. Nat Genet. 2025. PMID: 40038547 Free PMC article.
Engineering structural variants to interrogate genome function.
Koeppel J, Weller J, Vanderstichele T, Parts L. Koeppel J, et al. Among authors: vanderstichele t. Nat Genet. 2024 Dec;56(12):2623-2635. doi: 10.1038/s41588-024-01981-7. Epub 2024 Nov 12. Nat Genet. 2024. PMID: 39533047 Review.
Predicting base editing outcomes using position-specific sequence determinants.
Pallaseni A, Peets EM, Koeppel J, Weller J, Vanderstichele T, Ho UL, Crepaldi L, van Leeuwen J, Allen F, Parts L. Pallaseni A, et al. Among authors: vanderstichele t. Nucleic Acids Res. 2022 Apr 8;50(6):3551-3564. doi: 10.1093/nar/gkac161. Nucleic Acids Res. 2022. PMID: 35286377 Free PMC article.
Randomizing the human genome by engineering recombination between repeat elements.
Koeppel J, Ferreira R, Vanderstichele T, Riedmayr LM, Peets EM, Girling G, Weller J, Murat P, Liberante FG, Ellis T, Church GM, Parts L. Koeppel J, et al. Among authors: vanderstichele t. Science. 2025 Jan 31;387(6733):eado3979. doi: 10.1126/science.ado3979. Epub 2025 Jan 31. Science. 2025. PMID: 39883775
Misexpression of inactive genes in whole blood is associated with nearby rare structural variants.
Vanderstichele T, Burnham KL, de Klein N, Tardaguila M, Howell B, Walter K, Kundu K, Koeppel J, Lee W, Tokolyi A, Persyn E, Nath AP, Marten J, Petrovski S, Roberts DJ, Di Angelantonio E, Danesh J, Berton A, Platt A, Butterworth AS, Soranzo N, Parts L, Inouye M, Paul DS, Davenport EE. Vanderstichele T, et al. Am J Hum Genet. 2024 Aug 8;111(8):1524-1543. doi: 10.1016/j.ajhg.2024.06.017. Epub 2024 Jul 24. Am J Hum Genet. 2024. PMID: 39053458 Free PMC article.