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Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants.
Pinsach-Abuin ML, Del Olmo B, Pérez-Agustin A, Mates J, Allegue C, Iglesias A, Ma Q, Merkurjev D, Konovalov S, Zhang J, Sheikh F, Telenti A, Brugada J, Brugada R, Gymrek M, di Iulio J, Garcia-Bassets I, Pagans S. Pinsach-Abuin ML, et al. Among authors: gymrek m. Cell Rep Med. 2021 Apr 20;2(4):100250. doi: 10.1016/j.xcrm.2021.100250. eCollection 2021 Apr 20. Cell Rep Med. 2021. PMID: 33948580 Free PMC article.
The impact of short tandem repeat variation on gene expression.
Fotsing SF, Margoliash J, Wang C, Saini S, Yanicky R, Shleizer-Burko S, Goren A, Gymrek M. Fotsing SF, et al. Among authors: gymrek m. Nat Genet. 2019 Nov;51(11):1652-1659. doi: 10.1038/s41588-019-0521-9. Epub 2019 Nov 1. Nat Genet. 2019. PMID: 31676866 Free PMC article.
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, Hong O, Mitra I, Yang X, Wirth SA, Gu J, Garcia CAB, Gujral M, Brandler WM, Musaev D, Nguyen A, McEvoy-Venneri J, Knox R, Sticca E, Botello MCC, Uribe Fenner J, Pérez MC, Arranz M, Moffitt AB, Wang Z, Hervás A, Devinsky O, Gymrek M, Sebat J, Gleeson JG. Breuss MW, et al. Among authors: gymrek m. Nat Med. 2020 Jan;26(1):143-150. doi: 10.1038/s41591-019-0711-0. Epub 2019 Dec 23. Nat Med. 2020. PMID: 31873310 Free PMC article.
A genomic view of short tandem repeats.
Gymrek M. Gymrek M. Curr Opin Genet Dev. 2017 Jun;44:9-16. doi: 10.1016/j.gde.2017.01.012. Epub 2017 Feb 16. Curr Opin Genet Dev. 2017. PMID: 28213161 Review.
Targeted genotyping of variable number tandem repeats with adVNTR.
Bakhtiari M, Shleizer-Burko S, Gymrek M, Bansal V, Bafna V. Bakhtiari M, et al. Among authors: gymrek m. Genome Res. 2018 Nov;28(11):1709-1719. doi: 10.1101/gr.235119.118. Epub 2018 Oct 23. Genome Res. 2018. PMID: 30352806 Free PMC article.
61 results