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Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
Koboldt DC, Hickey SE, Chaudhari BP, Mihalic Mosher T, Bedrosian T, Crist E, Kaler SG, McBride K, White P, Wilson RK. Koboldt DC, et al. Among authors: wilson rk. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005306. doi: 10.1101/mcs.a005306. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532881 Free PMC article.
Challenges of sequencing human genomes.
Koboldt DC, Ding L, Mardis ER, Wilson RK. Koboldt DC, et al. Among authors: wilson rk. Brief Bioinform. 2010 Sep;11(5):484-98. doi: 10.1093/bib/bbq016. Epub 2010 Jun 2. Brief Bioinform. 2010. PMID: 20519329 Free PMC article. Review.
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes.
Graubert TA, Shen D, Ding L, Okeyo-Owuor T, Lunn CL, Shao J, Krysiak K, Harris CC, Koboldt DC, Larson DE, McLellan MD, Dooling DJ, Abbott RM, Fulton RS, Schmidt H, Kalicki-Veizer J, O'Laughlin M, Grillot M, Baty J, Heath S, Frater JL, Nasim T, Link DC, Tomasson MH, Westervelt P, DiPersio JF, Mardis ER, Ley TJ, Wilson RK, Walter MJ. Graubert TA, et al. Among authors: wilson rk. Nat Genet. 2011 Dec 11;44(1):53-7. doi: 10.1038/ng.1031. Nat Genet. 2011. PMID: 22158538 Free PMC article.
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL, Johnson KJ, Lu C, McLellan MD, Leiserson MD, Wendl MC, Zhang Q, Koboldt DC, Xie M, Kandoth C, McMichael JF, Wyczalkowski MA, Larson DE, Schmidt HK, Miller CA, Fulton RS, Spellman PT, Mardis ER, Druley TE, Graubert TA, Goodfellow PJ, Raphael BJ, Wilson RK, Ding L. Kanchi KL, et al. Among authors: wilson rk. Nat Commun. 2014;5:3156. doi: 10.1038/ncomms4156. Nat Commun. 2014. PMID: 24448499 Free PMC article.
Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
Service SK, Teslovich TM, Fuchsberger C, Ramensky V, Yajnik P, Koboldt DC, Larson DE, Zhang Q, Lin L, Welch R, Ding L, McLellan MD, O'Laughlin M, Fronick C, Fulton LL, Magrini V, Swift A, Elliott P, Jarvelin MR, Kaakinen M, McCarthy MI, Peltonen L, Pouta A, Bonnycastle LL, Collins FS, Narisu N, Stringham HM, Tuomilehto J, Ripatti S, Fulton RS, Sabatti C, Wilson RK, Boehnke M, Freimer NB. Service SK, et al. Among authors: wilson rk. PLoS Genet. 2014 Jan 30;10(1):e1004147. doi: 10.1371/journal.pgen.1004147. eCollection 2014 Jan. PLoS Genet. 2014. PMID: 24497850 Free PMC article.
Exome-based mapping and variant prioritization for inherited Mendelian disorders.
Koboldt DC, Larson DE, Sullivan LS, Bowne SJ, Steinberg KM, Churchill JD, Buhr AC, Nutter N, Pierce EA, Blanton SH, Weinstock GM, Wilson RK, Daiger SP. Koboldt DC, et al. Among authors: wilson rk. Am J Hum Genet. 2014 Mar 6;94(3):373-84. doi: 10.1016/j.ajhg.2014.01.016. Epub 2014 Feb 20. Am J Hum Genet. 2014. PMID: 24560519 Free PMC article.
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