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Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
Proc Natl Acad Sci U S A. 2018 Jan 9;115(2):379-384. doi: 10.1073/pnas.1705859115. Epub 2017 Dec 26.
Proc Natl Acad Sci U S A. 2018.
PMID: 29279374
Free PMC article.
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB; GoT2D Consortium; NHGRI JHS/FHS Allelic Spectrum Project; SIGMA T2D Consortium; T2D-GENES Consortium; Rosen ED, Altshuler D.
Majithia AR, et al.
Proc Natl Acad Sci U S A. 2014 Sep 9;111(36):13127-32. doi: 10.1073/pnas.1410428111. Epub 2014 Aug 25.
Proc Natl Acad Sci U S A. 2014.
PMID: 25157153
Free PMC article.
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Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.
Szustakowski JD, Balasubramanian S, Kvikstad E, Khalid S, Bronson PG, Sasson A, Wong E, Liu D, Wade Davis J, Haefliger C, Katrina Loomis A, Mikkilineni R, Noh HJ, Wadhawan S, Bai X, Hawes A, Krasheninina O, Ulloa R, Lopez AE, Smith EN, Waring JF, Whelan CD, Tsai EA, Overton JD, Salerno WJ, Jacob H, Szalma S, Runz H, Hinkle G, Nioi P, Petrovski S, Miller MR, Baras A, Mitnaul LJ, Reid JG; UKB-ESC Research Team.
Szustakowski JD, et al.
Nat Genet. 2021 Jul;53(7):942-948. doi: 10.1038/s41588-021-00885-0. Epub 2021 Jun 28.
Nat Genet. 2021.
PMID: 34183854
Review.
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Next-generation sequencing of disseminated tumor cells.
Møller EK, Kumar P, Voet T, Peterson A, Van Loo P, Mathiesen RR, Fjelldal R, Grundstad J, Borgen E, Baumbusch LO, Naume B, Børresen-Dale AL, White KP, Nord S, Kristensen VN.
Møller EK, et al. Among authors: grundstad j.
Front Oncol. 2013 Dec 31;3:320. doi: 10.3389/fonc.2013.00320. eCollection 2013.
Front Oncol. 2013.
PMID: 24427740
Free PMC article.
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A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data.
Kim YJ, Lee J, Kim BJ; T2D-Genes Consortium; Park T.
Kim YJ, et al.
BMC Genomics. 2015 Dec 29;16:1109. doi: 10.1186/s12864-015-2192-y.
BMC Genomics. 2015.
PMID: 26715385
Free PMC article.
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Transcript annotation prioritization and screening system (TrAPSS) for mutation screening.
O'Leary BM, Davis SG, Smith MF, Brown B, Kemp MB, Almabrazi H, Grundstad JA, Burns T, Leontiev V, Andorf J, Clark AF, Sheffield VC, Casavant TL, Scheetz TE, Stone EM, Braun TA.
O'Leary BM, et al. Among authors: grundstad ja.
J Bioinform Comput Biol. 2007 Dec;5(6):1155-72. doi: 10.1142/s0219720007003132.
J Bioinform Comput Biol. 2007.
PMID: 18172923
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Protein expression in a transformed trabecular meshwork cell line: proteome analysis.
Steely HT, Dillow GW, Bian L, Grundstad J, Braun TA, Casavant TL, McCartney MD, Clark AF.
Steely HT, et al. Among authors: grundstad j.
Mol Vis. 2006 Apr 18;12:372-83.
Mol Vis. 2006.
PMID: 16636656
Free article.
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