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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Among authors: prybol cj. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
Burke EA, Sturgeon M, Zastrow DB, Fernandez L, Prybol C, Marwaha S, Frothingham EP, Ward PA, Eng CM, Fresard L, Montgomery SB, Enns GM, Fisher PG, Wolfe LA, Harding B, Carrington B, Bishop K, Sood R, Huang Y, Elkahloun A, Toro C, Bassuk AG, Wheeler MT, Markello TC, Gahl WA, Malicdan MCV. Burke EA, et al. J Neurogenet. 2021 Mar-Jun;35(2):74-83. doi: 10.1080/01677063.2021.1892095. Epub 2021 May 10. J Neurogenet. 2021. PMID: 33970744
Single gene insertion drives bioalcohol production by a thermophilic archaeon.
Basen M, Schut GJ, Nguyen DM, Lipscomb GL, Benn RA, Prybol CJ, Vaccaro BJ, Poole FL 2nd, Kelly RM, Adams MW. Basen M, et al. Among authors: prybol cj. Proc Natl Acad Sci U S A. 2014 Dec 9;111(49):17618-23. doi: 10.1073/pnas.1413789111. Epub 2014 Nov 3. Proc Natl Acad Sci U S A. 2014. PMID: 25368184 Free PMC article.