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Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease.
Johnson R, Stephens AV, Mester R, Knyazev S, Kohn LA, Freund MK, Bondhus L, Hill BL, Schwarz T, Zaitlen N, Arboleda VA, A Bastarache L, Pasaniuc B, Butte MJ. Johnson R, et al. Among authors: bondhus l. Sci Transl Med. 2024 May;16(745):eade4510. doi: 10.1126/scitranslmed.ade4510. Epub 2024 May 1. Sci Transl Med. 2024. PMID: 38691621 Free PMC article.
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
Singh M, Spendlove S, Wei A, Bondhus L, Nava A, de L Vitorino FN, Amano S, Lee J, Echeverria G, Gomez D, Garcia BA, Arboleda VA. Singh M, et al. Among authors: bondhus l. bioRxiv [Preprint]. 2023 Aug 5:2023.08.03.550595. doi: 10.1101/2023.08.03.550595. bioRxiv. 2023. Update in: Hum Genet. 2023 Dec;142(12):1705-1720. doi: 10.1007/s00439-023-02608-3. PMID: 37577627 Free PMC article. Updated. Preprint.