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Trisomy of a Down Syndrome Critical Region Globally Amplifies Transcription via HMGN1 Overexpression.

Mowery CT, Reyes JM, Cabal-Hierro L, et al. Trisomy of a Down Syndrome Critical Region Globally Amplifies Transcription via HMGN1 Overexpression. Cell Rep. 2018;25(7):1898-1911.e5. doi:10.1016/j.celrep.2018.10.061

Landscape of helper and regulatory antitumour CD4 T cells in melanoma.

Oliveira G, Stromhaug K, Cieri N, et al. Landscape of helper and regulatory antitumour CD4 T cells in melanoma. Nature. 2022;605(7910):532-538. doi:10.1038/s41586-022-04682-5

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.

Gould RA, Aziz H, Woods CE, et al. ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Nat Genet. 2019;51(1):42-50. doi:10.1038/s41588-018-0265-y

A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.

Farias FHG, Dahlqvist J, Kozyrev SV, et al. A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts. Eur J Hum Genet. 2019;27(3):432-441. doi:10.1038/s41431-018-0297-x

Distinguishing genetic correlation from causation across 52 diseases and complex traits.

O’Connor LJ, Price AL. Distinguishing genetic correlation from causation across 52 diseases and complex traits. Nat Genet. 2018;50(12):1728-1734. doi:10.1038/s41588-018-0255-0

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

Galván-Femenía I, Obón-Santacana M, Piñeyro D, et al. Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. J Med Genet. 2018;55(11):765-778. doi:10.1136/jmedgenet-2018-105437

PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants.

Bodea CA, Mitchell AA, Bloemendal A, Day-Williams AG, Runz H, Sunyaev SR. PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants. Genome Biol. 2018;19(1):173. doi:10.1186/s13059-018-1546-6

Genetic subtypes of smoldering multiple myeloma are associated with distinct pathogenic phenotypes and clinical outcomes.

Bustoros M, Anand S, Sklavenitis-Pistofidis R, et al. Genetic subtypes of smoldering multiple myeloma are associated with distinct pathogenic phenotypes and clinical outcomes. Nat Commun. 2022;13(1):3449. doi:10.1038/s41467-022-30694-w

Candidate-based screening via gene modulation in human neurons and astrocytes implicates FERMT2 in Aβ and TAU proteostasis.

Sullivan SE, Liao M, Smith RV, et al. Candidate-based screening via gene modulation in human neurons and astrocytes implicates FERMT2 in Aβ and TAU proteostasis. Hum Mol Genet. 2019;28(5):718-735. doi:10.1093/hmg/ddy376

Amoeba Predation of Cryptococcus neoformans Results in Pleiotropic Changes to Traits Associated with Virulence.

Fu MS, Liporagi-Lopes LC, Santos SRD, et al. Amoeba Predation of Cryptococcus neoformans Results in Pleiotropic Changes to Traits Associated with Virulence. mBio. 2021;12(2). doi:10.1128/mBio.00567-21