Elisha Roberson

Assistant Professor

Publications

  • Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma DOI: 10.1038/ng.2523
  • A subset of methylated CpG sites differentiate psoriatic from normal skin DOI: 10.1038/jid.2011.348
  • Consanguinity in Centre dtude du Polymorphisme Humain (CEPH) pedigrees DOI: 10.1038/ejhg.2011.266
  • Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions DOI: 10.1016/j.celrep.2011.11.001
  • PSORS2 is due to mutations in CARD14 DOI: 10.1016/j.ajhg.2012.03.012
  • Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis DOI: 10.1016/j.ajhg.2012.03.013
  • Genomic analysis of partial 21q monosomies with variable phenotypes DOI: 10.1038/ejhg.2010.150
  • Inference of relationships in population data using identity-by-descent and identity-by-state DOI: 10.1371/journal.pgen.1002287
  • Frequent mutation of BAP1 in metastasizing uveal melanomas DOI: 10.1126/science.1194472
  • Psoriasis genetics: Breaking the barrier DOI: 10.1016/j.tig.2010.06.006
  • Locations and patterns of meiotic recombination in two-generation pedigrees DOI: 10.1186/1471-2350-10-93
  • Visualization of shared genomic regions and meiotic recombination in high-density SNP data DOI: 10.1371/journal.pone.0006711
  • Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio DOI: 10.1002/humu.20583
  • Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations DOI: 10.1182/blood-2014-09-602763
  • Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis DOI: 10.1016/j.ajhg.2012.03.013
  • PSORS2 is due to mutations in CARD14 DOI: 10.1016/j.ajhg.2012.03.012
  • Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions DOI: 10.1016/j.celrep.2011.11.001
  • Consanguinity in Centre dtude du Polymorphisme Humain (CEPH) pedigrees DOI: 10.1038/ejhg.2011.266
  • A subset of methylated CpG sites differentiate psoriatic from normal skin DOI: 10.1038/jid.2011.348
  • Inference of relationships in population data using identity-by-descent and identity-by-state DOI: 10.1371/journal.pgen.1002287
  • Genomic analysis of partial 21q monosomies with variable phenotypes DOI: 10.1038/ejhg.2010.150
  • Psoriasis genetics: Breaking the barrier DOI: 10.1016/j.tig.2010.06.006
  • Frequent mutation of BAP1 in metastasizing uveal melanomas DOI: 10.1126/science.1194472
  • Visualization of shared genomic regions and meiotic recombination in high-density SNP data DOI: 10.1371/journal.pone.0006711
  • Locations and patterns of meiotic recombination in two-generation pedigrees DOI: 10.1186/1471-2350-10-93
  • Retinal ganglion cells downregulate gene expression and lose their axons within the optic nerve head in a mouse glaucoma model DOI: 10.1523/JNEUROSCI.3714-07.2008

Elisha's public data