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Page 1
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: ezquina s. 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.
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer.
Dicks EM, Tyrer JP, Ezquina S, Jones M, Baierl J, Peng PC, Diaz M, Goode E, Winham SJ, Dörk T, Van Gorp T, De Fazio A, Bowtell D, Odunsi K, Moysich K, Pavanello M, Campbell I, Brenton JD, Ramus SJ, Gayther SA, Pharoah PDP. Dicks EM, et al. Among authors: ezquina s. medRxiv [Preprint]. 2024 Apr 3:2024.04.02.24304968. doi: 10.1101/2024.04.02.24304968. medRxiv. 2024. PMID: 38633804 Free PMC article. Preprint.
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.
Romanelli Tavares VL, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira DP, Buermans H, Freitas RS, Den Dunnen JT, Twigg SRF, Passos-Bueno MR. Romanelli Tavares VL, et al. Among authors: ezquina s. J Med Genet. 2022 Sep;59(9):895-905. doi: 10.1136/jmedgenet-2021-107825. Epub 2021 Nov 8. J Med Genet. 2022. PMID: 34750192 Free PMC article.
Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.
Griesi-Oliveira K, Fogo MS, Pinto BGG, Alves AY, Suzuki AM, Morales AG, Ezquina S, Sosa OJ, Sutton GJ, Sunaga-Franze DY, Bueno AP, Seabra G, Sardinha L, Costa SS, Rosenberg C, Zachi EC, Sertie AL, Martins-de-Souza D, Reis EM, Voineagu I, Passos-Bueno MR. Griesi-Oliveira K, et al. Among authors: ezquina s. Mol Psychiatry. 2021 May;26(5):1589-1605. doi: 10.1038/s41380-020-0669-9. Epub 2020 Feb 14. Mol Psychiatry. 2021. PMID: 32060413 Free PMC article.
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.
Carneiro TN, Krepischi AC, Costa SS, Tojal da Silva I, Vianna-Morgante AM, Valieris R, Ezquina SA, Bertola DR, Otto PA, Rosenberg C. Carneiro TN, et al. Among authors: ezquina sa. Appl Clin Genet. 2018 Aug 22;11:93-98. doi: 10.2147/TACG.S165799. eCollection 2018. Appl Clin Genet. 2018. PMID: 30174453 Free PMC article.
Development of a comprehensive noninvasive prenatal test.
Malcher C, Yamamoto GL, Burnham P, Ezquina SAM, Lourenço NCV, Balkassmi S, Antonio DSM, Hsia GSP, Gollop T, Pavanello RC, Lopes MA, Bakker E, Zatz M, Bertola D, Vlaminck I, Passos-Bueno MR. Malcher C, et al. Among authors: ezquina sam. Genet Mol Biol. 2018 Jul/Sept.;41(3):545-554. doi: 10.1590/1678-4685-GMB-2017-0177. Epub 2018 Jul 16. Genet Mol Biol. 2018. PMID: 30043834 Free PMC article.
Actin cytoskeleton dynamics in stem cells from autistic individuals.
Griesi-Oliveira K, Suzuki AM, Alves AY, Mafra ACCN, Yamamoto GL, Ezquina S, Magalhães YT, Forti FL, Sertie AL, Zachi EC, Vadasz E, Passos-Bueno MR. Griesi-Oliveira K, et al. Among authors: ezquina s. Sci Rep. 2018 Jul 24;8(1):11138. doi: 10.1038/s41598-018-29309-6. Sci Rep. 2018. PMID: 30042445 Free PMC article.
17 results