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A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank.
Manigbas CA, Jadhav B, Garg P, Shadrina M, Lee W, Martin-Trujillo A, Sharp AJ. Manigbas CA, et al. Among authors: martin trujillo a. medRxiv [Preprint]. 2024 Jan 23:2024.01.22.24301630. doi: 10.1101/2024.01.22.24301630. medRxiv. 2024. Update in: Nat Commun. 2024 Dec 3;15(1):10521. doi: 10.1038/s41467-024-54678-0 PMID: 38343850 Free PMC article. Updated. Preprint.
Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting.
Sanchez-Delgado M, Martin-Trujillo A, Tayama C, Vidal E, Esteller M, Iglesias-Platas I, Deo N, Barney O, Maclean K, Hata K, Nakabayashi K, Fisher R, Monk D. Sanchez-Delgado M, et al. PLoS Genet. 2015 Nov 6;11(11):e1005644. doi: 10.1371/journal.pgen.1005644. eCollection 2015 Nov. PLoS Genet. 2015. PMID: 26544189 Free PMC article.
Identification of rare de novo epigenetic variations in congenital disorders.
Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ. Barbosa M, et al. Nat Commun. 2018 May 25;9(1):2064. doi: 10.1038/s41467-018-04540-x. Nat Commun. 2018. PMID: 29802345 Free PMC article.
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.
Martin-Trujillo A, Patel N, Richter F, Jadhav B, Garg P, Morton SU, McKean DM, DePalma SR, Goldmuntz E, Gruber D, Kim R, Newburger JW, Porter GA Jr, Giardini A, Bernstein D, Tristani-Firouzi M, Seidman JG, Seidman CE, Chung WK, Gelb BD, Sharp AJ. Martin-Trujillo A, et al. PLoS Genet. 2020 Nov 20;16(11):e1009189. doi: 10.1371/journal.pgen.1009189. eCollection 2020 Nov. PLoS Genet. 2020. PMID: 33216750 Free PMC article.
34 results