Elisha Roberson

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