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Page 1
Using exome data to identify malignant hyperthermia susceptibility mutations.
Gonsalves SG, Ng D, Johnston JJ, Teer JK, Stenson PD, Cooper DN, Mullikin JC, Biesecker LG; NISC Comparative Sequencing Program. Gonsalves SG, et al. Among authors: ng d. Anesthesiology. 2013 Nov;119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. Anesthesiology. 2013. PMID: 24195946 Free PMC article.
Interpreting secondary cardiac disease variants in an exome cohort.
Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program. Ng D, et al. Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16. Circ Cardiovasc Genet. 2013. PMID: 23861362 Free PMC article.
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG. Johnston JJ, et al. Among authors: ng d. Am J Hum Genet. 2015 Jun 4;96(6):913-25. doi: 10.1016/j.ajhg.2015.04.013. Am J Hum Genet. 2015. PMID: 26046366 Free PMC article.
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
Rees MG, Ng D, Ruppert S, Turner C, Beer NL, Swift AJ, Morken MA, Below JE, Blech I; NISC Comparative Sequencing Program; Mullikin JC, McCarthy MI, Biesecker LG, Gloyn AL, Collins FS. Rees MG, et al. Among authors: ng d. J Clin Invest. 2012 Jan;122(1):205-17. doi: 10.1172/JCI46425. Epub 2011 Dec 19. J Clin Invest. 2012. PMID: 22182842 Free PMC article.
A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG. Lindhurst MJ, et al. Among authors: ng d. N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017. Epub 2011 Jul 27. N Engl J Med. 2011. PMID: 21793738 Free PMC article.
2,084 results