2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes
Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ. Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLOS ONE 2015, 10: e0135193. PMID: 26332594, PMCID: PMC4558085, DOI: 10.1371/journal.pone.0135193.Peer-Reviewed Original ResearchConceptsSecondary findingsAdditional truncating variantsRelevant secondary findingsCancer predisposition syndromeClinical laboratory specialistsActionable secondary findingsCardiac conditionsAmerican CollegeFamilial hypercholesterolemiaPredisposition syndromeAfrican ancestry groupPathogenic variantsTruncating variantsClinical standardsLiterature reviewActionable conditionsImportant secondary findingActionable findingsDiseaseACMG genesLaboratory specialistsUnderstudied populationAncestry groupsCandidate variantsExpert physicians
2012
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. Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis. American Journal Of Human Genetics 2012, 90: 796-808. PMID: 22521419, PMCID: PMC3376540, DOI: 10.1016/j.ajhg.2012.03.013.Peer-Reviewed Original ResearchMeSH KeywordsCARD Signaling Adaptor ProteinsCase-Control StudiesEpidermisGene Expression RegulationGenetic Predisposition to DiseaseGuanylate CyclaseHLA-C AntigensHumansKeratinocytesMembrane ProteinsMutation, MissenseNF-kappa BPolymorphism, GeneticPsoriasisSkinTranscriptomeTumor Necrosis Factor-alphaWhite People