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In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. Koboldt DC, et al. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003160. doi: 10.1101/mcs.a003160. Print 2018 Oct. Cold Spring Harb Mol Case Stud. 2018. PMID: 30054298 Free PMC article.
Challenges of sequencing human genomes.
Koboldt DC, Ding L, Mardis ER, Wilson RK. Koboldt DC, et al. 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.
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. 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.
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH, Cadena E, Avery CE, Lewis RA, Webb-Jones K, Wheaton DH, Birch DG, Coussa R, Ren H, Lopez I, Chakarova C, Koenekoop RK, Garcia CA, Fulton RS, Wilson RK, Weinstock GM, Daiger SP. Sullivan LS, et al. Among authors: koboldt dc. Invest Ophthalmol Vis Sci. 2014 Sep 4;55(11):7147-58. doi: 10.1167/iovs.14-15419. Invest Ophthalmol Vis Sci. 2014. PMID: 25190649 Free PMC article.
140 results