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Items: 1 to 20 of 21

1.

Motif scraper: a cross-platform, open-source tool for identifying degenerate nucleotide motif matches in FASTA files.

Roberson EDO.

Bioinformatics. 2018 Nov 15;34(22):3926-3928. doi: 10.1093/bioinformatics/bty437.

PMID:
29850891
2.

Protective Low-Frequency Variants for Preeclampsia in the Fms Related Tyrosine Kinase 1 Gene in the Finnish Population.

Lokki AI, Daly E, Triebwasser M, Kurki MI, Roberson EDO, Häppölä P, Auro K, Perola M, Heinonen S, Kajantie E, Kere J, Kivinen K, Pouta A, Salmon JE, Meri S, Daly M, Atkinson JP, Laivuori H.

Hypertension. 2017 Aug;70(2):365-371. doi: 10.1161/HYPERTENSIONAHA.117.09406. Epub 2017 Jun 26.

3.

A mucosal imprint left by prior Escherichia coli bladder infection sensitizes to recurrent disease.

O'Brien VP, Hannan TJ, Yu L, Livny J, Roberson ED, Schwartz DJ, Souza S, Mendelsohn CL, Colonna M, Lewis AL, Hultgren SJ.

Nat Microbiol. 2016 Oct 31;2:16196. doi: 10.1038/nmicrobiol.2016.196.

4.

Identification of high-efficiency 3'GG gRNA motifs in indexed FASTA files with ngg2.

Roberson ED.

PeerJ Comput Sci. 2015;1. pii: e33. Epub 2015 Nov 18.

5.

Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration.

Triebwasser MP, Roberson ED, Yu Y, Schramm EC, Wagner EK, Raychaudhuri S, Seddon JM, Atkinson JP.

Invest Ophthalmol Vis Sci. 2015 Oct;56(11):6873-8. doi: 10.1167/iovs.15-17432.

6.

Editorial: genomic advances in systemic sclerosis: it is time for precision.

Varga J, Roberson ED.

Arthritis Rheumatol. 2015 Nov;67(11):2801-5. doi: 10.1002/art.39285. No abstract available.

7.

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes JD, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA.

Blood. 2015 Jan 22;125(4):591-9. doi: 10.1182/blood-2014-09-602763. Epub 2014 Oct 30.

8.

Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma.

Harbour JW, Roberson ED, Anbunathan H, Onken MD, Worley LA, Bowcock AM.

Nat Genet. 2013 Feb;45(2):133-5. doi: 10.1038/ng.2523. Epub 2013 Jan 13.

9.

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptáček LJ.

Cell Rep. 2012 Jan 26;1(1):2-12. doi: 10.1016/j.celrep.2011.11.001. Epub 2011 Dec 15.

10.

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.

Jordan CT, Cao L, Roberson ED, Duan S, Helms CA, Nair RP, Duffin KC, Stuart PE, Goldgar D, Hayashi G, Olfson EH, Feng BJ, Pullinger CR, Kane JP, Wise CA, Goldbach-Mansky R, Lowes MA, Peddle L, Chandran V, Liao W, Rahman P, Krueger GG, Gladman D, Elder JT, Menter A, Bowcock AM.

Am J Hum Genet. 2012 May 4;90(5):796-808. doi: 10.1016/j.ajhg.2012.03.013. Epub 2012 Apr 19.

11.

PSORS2 is due to mutations in CARD14.

Jordan CT, Cao L, Roberson ED, Pierson KC, Yang CF, Joyce CE, Ryan C, Duan S, Helms CA, Liu Y, Chen Y, McBride AA, Hwu WL, Wu JY, Chen YT, Menter A, Goldbach-Mansky R, Lowes MA, Bowcock AM.

Am J Hum Genet. 2012 May 4;90(5):784-95. doi: 10.1016/j.ajhg.2012.03.012. Epub 2012 Apr 19.

12.

Consanguinity in Centre d'Étude du Polymorphisme Humain (CEPH) pedigrees.

Stevens EL, Heckenberg G, Baugher JD, Roberson ED, Downey TJ, Pevsner J.

Eur J Hum Genet. 2012 Jun;20(6):657-67. doi: 10.1038/ejhg.2011.266. Epub 2012 Jan 25.

13.

A subset of methylated CpG sites differentiate psoriatic from normal skin.

Roberson ED, Liu Y, Ryan C, Joyce CE, Duan S, Cao L, Martin A, Liao W, Menter A, Bowcock AM.

J Invest Dermatol. 2012 Mar;132(3 Pt 1):583-92. doi: 10.1038/jid.2011.348. Epub 2011 Nov 10.

14.

Inference of relationships in population data using identity-by-descent and identity-by-state.

Stevens EL, Heckenberg G, Roberson ED, Baugher JD, Downey TJ, Pevsner J.

PLoS Genet. 2011 Sep;7(9):e1002287. doi: 10.1371/journal.pgen.1002287. Epub 2011 Sep 22.

15.

Frequent mutation of BAP1 in metastasizing uveal melanomas.

Harbour JW, Onken MD, Roberson ED, Duan S, Cao L, Worley LA, Council ML, Matatall KA, Helms C, Bowcock AM.

Science. 2010 Dec 3;330(6009):1410-3. doi: 10.1126/science.1194472. Epub 2010 Nov 4.

16.

Genomic analysis of partial 21q monosomies with variable phenotypes.

Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J.

Eur J Hum Genet. 2011 Feb;19(2):235-8. doi: 10.1038/ejhg.2010.150. Epub 2010 Sep 8.

17.

Psoriasis genetics: breaking the barrier.

Roberson ED, Bowcock AM.

Trends Genet. 2010 Sep;26(9):415-23. doi: 10.1016/j.tig.2010.06.006. Epub 2010 Aug 6. Review.

18.

Locations and patterns of meiotic recombination in two-generation pedigrees.

Ting JC, Roberson ED, Currier DG, Pevsner J.

BMC Med Genet. 2009 Sep 17;10:93. doi: 10.1186/1471-2350-10-93.

19.

Visualization of shared genomic regions and meiotic recombination in high-density SNP data.

Roberson ED, Pevsner J.

PLoS One. 2009 Aug 21;4(8):e6711. doi: 10.1371/journal.pone.0006711.

20.

Retinal ganglion cells downregulate gene expression and lose their axons within the optic nerve head in a mouse glaucoma model.

Soto I, Oglesby E, Buckingham BP, Son JL, Roberson ED, Steele MR, Inman DM, Vetter ML, Horner PJ, Marsh-Armstrong N.

J Neurosci. 2008 Jan 9;28(2):548-61. doi: 10.1523/JNEUROSCI.3714-07.2008.

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