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Page 1
Independent expansion, selection and hypervariability of the TBC1D3 gene family in humans.
Guitart X, Porubsky D, Yoo D, Dougherty ML, Dishuck PC, Munson KM, Lewis AP, Hoekzema K, Knuth J, Chang S, Pastinen T, Eichler EE. Guitart X, et al. Among authors: pastinen t. bioRxiv [Preprint]. 2024 Mar 13:2024.03.12.584650. doi: 10.1101/2024.03.12.584650. bioRxiv. 2024. Update in: Genome Res. 2024 Nov 20;34(11):1798-1810. doi: 10.1101/gr.279299.124 PMID: 38654825 Free PMC article. Updated. Preprint.
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T; All of Us Research Program Long Read Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: pastinen t. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. Nat Genet. 2024. PMID: 38937606
Points-to-consider on the return of results in epigenetic research.
Dyke SOM, Saulnier KM, Dupras C, Webster AP, Maschke K, Rothstein M, Siebert R, Walter J, Beck S, Pastinen T, Joly Y. Dyke SOM, et al. Among authors: pastinen t. Genome Med. 2019 May 23;11(1):31. doi: 10.1186/s13073-019-0646-6. Genome Med. 2019. PMID: 31122281 Free PMC article. Review.
Epigenetic variation impacts individual differences in the transcriptional response to influenza infection.
Aracena KA, Lin YL, Luo K, Pacis A, Gona S, Mu Z, Yotova V, Sindeaux R, Pramatarova A, Simon MM, Chen X, Groza C, Lougheed D, Gregoire R, Brownlee D, Boye C, Pique-Regi R, Li Y, He X, Bujold D, Pastinen T, Bourque G, Barreiro LB. Aracena KA, et al. Among authors: pastinen t. Nat Genet. 2024 Mar;56(3):408-419. doi: 10.1038/s41588-024-01668-z. Epub 2024 Feb 29. Nat Genet. 2024. PMID: 38424460
241 results