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The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, Golas G, Groden C, Landis D, Nehrebecky M, Park G, Soldatos A, Tifft C, Toro C, Wahl C, Wolfe L, Gahl WA, Boerkoel CF. Lawrence L, et al. Among authors: adams dr. Genet Med. 2014 Oct;16(10):741-50. doi: 10.1038/gim.2014.29. Epub 2014 May 1. Genet Med. 2014. PMID: 24784157 Free PMC article.
Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
Vincent LM, Adams D, Hess RA, Ziegler SG, Tsilou E, Golas G, O'Brien KJ, White JG, Huizing M, Gahl WA. Vincent LM, et al. Mol Genet Metab. 2009 Jul;97(3):227-33. doi: 10.1016/j.ymgme.2009.03.011. Epub 2009 Apr 2. Mol Genet Metab. 2009. PMID: 19398212 Free PMC article.
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini I, Fischer RE, Krasnewich D, Oden N, Ling A, Quezado Z, Zak C, Daryanani KT, Turkbey B, Choyke P, Guay-Woodford LM, Gahl WA. Gunay-Aygun M, et al. Clin J Am Soc Nephrol. 2010 Jun;5(6):972-84. doi: 10.2215/CJN.07141009. Epub 2010 Apr 22. Clin J Am Soc Nephrol. 2010. PMID: 20413436 Free PMC article.
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C. Pierson TM, et al. PLoS Genet. 2011 Oct;7(10):e1002325. doi: 10.1371/journal.pgen.1002325. Epub 2011 Oct 13. PLoS Genet. 2011. PMID: 22022284 Free PMC article.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D. Gahl WA, et al. Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26. Genet Med. 2012. PMID: 22237431 Free PMC article.
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.
Markello TC, Han T, Carlson-Donohoe H, Ahaghotu C, Harper U, Jones M, Chandrasekharappa S, Anikster Y, Adams DR; NISC Comparative Sequencing Program; Gahl WA, Boerkoel CF. Markello TC, et al. Among authors: adams dr. Mol Genet Metab. 2012 Mar;105(3):382-9. doi: 10.1016/j.ymgme.2011.12.014. Epub 2011 Dec 23. Mol Genet Metab. 2012. PMID: 22264778 Free PMC article.
392 results