Myers KA, McGlade A, Neubauer BA, et al. KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. PLoS One. 2018;13(1):e0191546. doi:10.1371/journal.pone.0191546.
Pérez-Palma E, May P, Iqbal S, et al. Identification of pathogenic variant enriched regions across genes and gene families. Genome Res. 2020;30(1):62-71. doi:10.1101/gr.252601.119.
Agostini M, Schoenmakers E, Beig J, et al. A Pharmacogenetic Approach to the Treatment of Patients With Mutations. Diabetes. 2018;67(6):1086-1092. doi:10.2337/db17-1236.
Ng SY, Brown L, Stevenson K, et al. RhoA G17V is sufficient to induce autoimmunity and promotes T-cell lymphomagenesis in mice. Blood. 2018;132(9):935-947. doi:10.1182/blood-2017-11-818617.
Gusarova V, O'Dushlaine C, Teslovich TM, et al. Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes. Nat Commun. 2018;9(1):2252. doi:10.1038/s41467-018-04611-z.
Raisner RM, Hartley PD, Meneghini MD, et al. Histone variant H2A.Z marks the 5' ends of both active and inactive genes in euchromatin. Cell. 2005;123(2):233-48. doi:10.1016/j.cell.2005.10.002.
Aung T, Ozaki M, Lee MC, et al. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017;49(7):993-1004. doi:10.1038/ng.3875.
Terao C, Okada Y, Ikari K, et al. Genetic landscape of interactive effects of alleles on susceptibility to ACPA(+) rheumatoid arthritis and ACPA levels in Japanese population. J Med Genet. 2017;54(12):853-858. doi:10.1136/jmedgenet-2017-104779.
Zdraljevic S, Strand C, Seidel HS, Cook DE, Doench JG, Andersen EC. Natural variation in a single amino acid substitution underlies physiological responses to topoisomerase II poisons. PLoS Genet. 2017;13(7):e1006891. doi:10.1371/journal.pgen.1006891.
van Doormaal PTC, Ticozzi N, Weishaupt JH, et al. The role of de novo mutations in the development of amyotrophic lateral sclerosis. Hum Mutat. 2017;38(11):1534-1541. doi:10.1002/humu.23295.