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Page 1
Mutations in ECEL1 cause distal arthrogryposis type 5D.
McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. McMillin MJ, et al. Among authors: below je. Am J Hum Genet. 2013 Jan 10;92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20. Am J Hum Genet. 2013. PMID: 23261301 Free PMC article.
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits.
Costanzo MC, von Grotthuss M, Massung J, Jang D, Caulkins L, Koesterer R, Gilbert C, Welch RP, Kudtarkar P, Hoang Q, Boughton AP, Singh P, Sun Y, Duby M, Moriondo A, Nguyen T, Smadbeck P, Alexander BR, Brandes M, Carmichael M, Dornbos P, Green T, Huellas-Bruskiewicz KC, Ji Y, Kluge A, McMahon AC, Mercader JM, Ruebenacker O, Sengupta S, Spalding D, Taliun D; AMP-T2D Consortium; Smith P, Thomas MK, Akolkar B, Brosnan MJ, Cherkas A, Chu AY, Fauman EB, Fox CS, Kamphaus TN, Miller MR, Nguyen L, Parsa A, Reilly DF, Ruetten H, Wholley D, Zaghloul NA, Abecasis GR, Altshuler D, Keane TM, McCarthy MI, Gaulton KJ, Florez JC, Boehnke M, Burtt NP, Flannick J. Costanzo MC, et al. Cell Metab. 2023 Apr 4;35(4):695-710.e6. doi: 10.1016/j.cmet.2023.03.001. Epub 2023 Mar 23. Cell Metab. 2023. PMID: 36963395 Free PMC article.
Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome.
Lancaster MC, Chen HH, Shoemaker MB, Fleming MR, Baker JT, Evans G, Polikowsky HG, Samuels DC, Huff CD, Roden DM, Below JE. Lancaster MC, et al. Among authors: below je. Res Sq [Preprint]. 2023 Sep 15:rs.3.rs-3314860. doi: 10.21203/rs.3.rs-3314860/v1. Res Sq. 2023. Update in: Nat Commun. 2024 Aug 29;15(1):7507. doi: 10.1038/s41467-024-51977-4 PMID: 37790303 Free PMC article. Updated. Preprint.
Genetic risk converges on regulatory networks mediating early type 2 diabetes.
Walker JT, Saunders DC, Rai V, Chen HH, Orchard P, Dai C, Pettway YD, Hopkirk AL, Reihsmann CV, Tao Y, Fan S, Shrestha S, Varshney A, Petty LE, Wright JJ, Ventresca C, Agarwala S, Aramandla R, Poffenberger G, Jenkins R, Mei S, Hart NJ, Phillips S, Kang H, Greiner DL, Shultz LD, Bottino R, Liu J, Below JE; HPAP Consortium; Parker SCJ, Powers AC, Brissova M. Walker JT, et al. Among authors: below je. Nature. 2023 Dec;624(7992):621-629. doi: 10.1038/s41586-023-06693-2. Epub 2023 Dec 4. Nature. 2023. PMID: 38049589 Free PMC article.
128 results