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Whole-exome sequencing for diagnosis of hereditary ichthyosis.
Sitek JC, Kulseth MA, Rypdal KB, Skodje T, Sheng Y, Retterstøl L. Sitek JC, et al. Among authors: rypdal kb. J Eur Acad Dermatol Venereol. 2018 Jun;32(6):1022-1027. doi: 10.1111/jdv.14870. Epub 2018 Mar 9. J Eur Acad Dermatol Venereol. 2018. PMID: 29444371
ADAMTSL3 knock-out mice develop cardiac dysfunction and dilatation with increased TGFβ signalling after pressure overload.
Rypdal KB, Olav Melleby A, Robinson EL, Li J, Palmero S, Seifert DE, Martin D, Clark C, López B, Andreassen K, Dahl CP, Sjaastad I, Tønnessen T, Stokke MK, Louch WE, González A, Heymans S, Christensen G, Apte SS, Lunde IG. Rypdal KB, et al. Commun Biol. 2022 Dec 20;5(1):1392. doi: 10.1038/s42003-022-04361-1. Commun Biol. 2022. PMID: 36539599 Free PMC article.
Extensive sequencing of seven human genomes to characterize benchmark reference materials.
Zook JM, Catoe D, McDaniel J, Vang L, Spies N, Sidow A, Weng Z, Liu Y, Mason CE, Alexander N, Henaff E, McIntyre AB, Chandramohan D, Chen F, Jaeger E, Moshrefi A, Pham K, Stedman W, Liang T, Saghbini M, Dzakula Z, Hastie A, Cao H, Deikus G, Schadt E, Sebra R, Bashir A, Truty RM, Chang CC, Gulbahce N, Zhao K, Ghosh S, Hyland F, Fu Y, Chaisson M, Xiao C, Trow J, Sherry ST, Zaranek AW, Ball M, Bobe J, Estep P, Church GM, Marks P, Kyriazopoulou-Panagiotopoulou S, Zheng GX, Schnall-Levin M, Ordonez HS, Mudivarti PA, Giorda K, Sheng Y, Rypdal KB, Salit M. Zook JM, et al. Among authors: rypdal kb. Sci Data. 2016 Jun 7;3:160025. doi: 10.1038/sdata.2016.25. Sci Data. 2016. PMID: 27271295 Free PMC article.