Elisha D. Roberson, Ph.D. - Publications

2009 Johns Hopkins University, Baltimore, MD 

19 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2018 Roberson EDO. Motif Scraper: A cross-platform, open-source tool for identifying degenerate nucleotide motif matches in FASTA files. Bioinformatics (Oxford, England). PMID 29850891 DOI: 10.1093/bioinformatics/bty437  0.44
2015 Triebwasser MP, Roberson ED, Yu Y, Schramm EC, Wagner EK, Raychaudhuri S, Seddon JM, Atkinson JP. Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration. Investigative Ophthalmology & Visual Science. 56: 6873-8. PMID 26501415 DOI: 10.1167/iovs.15-17432  1
2015 Varga J, Roberson ED. Editorial: Genomic Advances in Systemic Sclerosis: It Is Time for Precision. Arthritis & Rheumatology (Hoboken, N.J.). 67: 2801-5. PMID 26239971 DOI: 10.1002/art.39285  1
2015 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, et al. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood. 125: 591-9. PMID 25359994 DOI: 10.1182/blood-2014-09-602763  1
2015 Roberson ED. Identification of high-efficiency 3'GG gRNA motifs in indexed FASTA files with ngg2 Peerj. 2015. DOI: 10.7717/peerj-cs.33  1
2013 Harbour JW, Roberson ED, Anbunathan H, Onken MD, Worley LA, Bowcock AM. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nature Genetics. 45: 133-5. PMID 23313955 DOI: 10.1038/ng.2523  1
2012 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, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Reports. 1: 2-12. PMID 22832103 DOI: 10.1016/j.celrep.2011.11.001  1
2012 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, et al. Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. American Journal of Human Genetics. 90: 796-808. PMID 22521419 DOI: 10.1016/j.ajhg.2012.03.013  1
2012 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, et al. PSORS2 is due to mutations in CARD14. American Journal of Human Genetics. 90: 784-95. PMID 22521418 DOI: 10.1016/j.ajhg.2012.03.012  1
2012 Stevens EL, Heckenberg G, Baugher JD, Roberson ED, Downey TJ, Pevsner J. Consanguinity in Centre d'Étude du Polymorphisme Humain (CEPH) pedigrees. European Journal of Human Genetics : Ejhg. 20: 657-67. PMID 22274586 DOI: 10.1038/ejhg.2011.266  1
2012 Roberson ED, Liu Y, Ryan C, Joyce CE, Duan S, Cao L, Martin A, Liao W, Menter A, Bowcock AM. A subset of methylated CpG sites differentiate psoriatic from normal skin. The Journal of Investigative Dermatology. 132: 583-92. PMID 22071477 DOI: 10.1038/jid.2011.348  1
2011 Stevens EL, Heckenberg G, Roberson ED, Baugher JD, Downey TJ, Pevsner J. Inference of relationships in population data using identity-by-descent and identity-by-state. Plos Genetics. 7: e1002287. PMID 21966277 DOI: 10.1371/journal.pgen.1002287  1
2011 Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J. Genomic analysis of partial 21q monosomies with variable phenotypes. European Journal of Human Genetics : Ejhg. 19: 235-8. PMID 20823914 DOI: 10.1038/ejhg.2010.150  1
2010 Harbour JW, Onken MD, Roberson ED, Duan S, Cao L, Worley LA, Council ML, Matatall KA, Helms C, Bowcock AM. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science (New York, N.Y.). 330: 1410-3. PMID 21051595 DOI: 10.1126/science.1194472  1
2010 Roberson ED, Bowcock AM. Psoriasis genetics: breaking the barrier. Trends in Genetics : Tig. 26: 415-23. PMID 20692714 DOI: 10.1016/j.tig.2010.06.006  1
2009 Ting JC, Roberson ED, Currier DG, Pevsner J. Locations and patterns of meiotic recombination in two-generation pedigrees. Bmc Medical Genetics. 10: 93. PMID 19761602 DOI: 10.1186/1471-2350-10-93  1
2009 Roberson ED, Pevsner J. Visualization of shared genomic regions and meiotic recombination in high-density SNP data. Plos One. 4: e6711. PMID 19696932 DOI: 10.1371/journal.pone.0006711  1
2008 Soto I, Oglesby E, Buckingham BP, Son JL, Roberson ED, Steele MR, Inman DM, Vetter ML, Horner PJ, Marsh-Armstrong N. Retinal ganglion cells downregulate gene expression and lose their axons within the optic nerve head in a mouse glaucoma model. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 28: 548-61. PMID 18184797 DOI: 10.1523/JNEUROSCI.3714-07.2008  1
2007 Ting JC, Roberson ED, Miller ND, Lysholm-Bernacchi A, Stephan DA, Capone GT, Ruczinski I, Thomas GH, Pevsner J. Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio. Human Mutation. 28: 1225-35. PMID 17661425 DOI: 10.1002/humu.20583  1
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