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Regulatory de novo mutations underlying intellectual disability.
De Vas MG, Boulet F, Joshi SS, Garstang MG, Khan TN, Atla G, Parry D, Moore D, Cebola I, Zhang S, Cui W, Lampe AK, Lam WW; Genomics England Research Consortium; Ferrer J, Pradeepa MM, Atanur SS. De Vas MG, et al. Life Sci Alliance. 2023 Feb 28;6(5):e202201843. doi: 10.26508/lsa.202201843. Print 2023 May. Life Sci Alliance. 2023. PMID: 36854624 Free PMC article.
The HASTER lncRNA promoter is a cis-acting transcriptional stabilizer of HNF1A.
Beucher A, Miguel-Escalada I, Balboa D, De Vas MG, Maestro MA, Garcia-Hurtado J, Bernal A, Gonzalez-Franco R, Vargiu P, Heyn H, Ravassard P, Ortega S, Ferrer J. Beucher A, et al. Nat Cell Biol. 2022 Oct;24(10):1528-1540. doi: 10.1038/s41556-022-00996-8. Epub 2022 Oct 6. Nat Cell Biol. 2022. PMID: 36202974 Free PMC article.
Genetic regulation of RNA splicing in human pancreatic islets.
Atla G, Bonàs-Guarch S, Cuenca-Ardura M, Beucher A, Crouch DJM, Garcia-Hurtado J, Moran I; T2DSystems Consortium; Irimia M, Prasad RB, Gloyn AL, Marselli L, Suleiman M, Berney T, de Koning EJP, Kerr-Conte J, Pattou F, Todd JA, Piemonti L, Ferrer J. Atla G, et al. Genome Biol. 2022 Sep 15;23(1):196. doi: 10.1186/s13059-022-02757-0. Genome Biol. 2022. PMID: 36109769 Free PMC article.
TIGER: The gene expression regulatory variation landscape of human pancreatic islets.
Alonso L, Piron A, Morán I, Guindo-Martínez M, Bonàs-Guarch S, Atla G, Miguel-Escalada I, Royo R, Puiggròs M, Garcia-Hurtado X, Suleiman M, Marselli L, Esguerra JLS, Turatsinze JV, Torres JM, Nylander V, Chen J, Eliasson L, Defrance M, Amela R; MAGIC; Mulder H, Gloyn AL, Groop L, Marchetti P, Eizirik DL, Ferrer J, Mercader JM, Cnop M, Torrents D. Alonso L, et al. Cell Rep. 2021 Oct 12;37(2):109807. doi: 10.1016/j.celrep.2021.109807. Cell Rep. 2021. PMID: 34644572 Free PMC article.
CRISPR-based genome editing in primary human pancreatic islet cells.
Bevacqua RJ, Dai X, Lam JY, Gu X, Friedlander MSH, Tellez K, Miguel-Escalada I, Bonàs-Guarch S, Atla G, Zhao W, Kim SH, Dominguez AA, Qi LS, Ferrer J, MacDonald PE, Kim SK. Bevacqua RJ, et al. Nat Commun. 2021 Apr 23;12(1):2397. doi: 10.1038/s41467-021-22651-w. Nat Commun. 2021. PMID: 33893274 Free PMC article.