2013
Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment
Powers NR, Eicher JD, Butter F, Kong Y, Miller LL, Ring SM, Mann M, Gruen JR. Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment. American Journal Of Human Genetics 2013, 93: 19-28. PMID: 23746548, PMCID: PMC3710765, DOI: 10.1016/j.ajhg.2013.05.008.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBase SequenceBinding SitesCase-Control StudiesDyslexiaGenetic Association StudiesHaplotypesHeLa CellsHumansLanguage Development DisordersLanguage TestsLinkage DisequilibriumMicrosatellite RepeatsMicrotubule-Associated ProteinsMolecular Sequence DataPhylogenyPolymorphism, GeneticPromoter Regions, GeneticProtein BindingProto-Oncogene Proteins c-etsRepressor ProteinsRisk Factors
2012
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma
Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker J, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, Bosenberg M, Sznol M, Kluger HM, Brash DE, Stern DF, Materin MA, Lo RS, Mane S, Ma S, Kidd KK, Hayward NK, Lifton RP, Schlessinger J, Boggon TJ, Halaban R. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nature Genetics 2012, 44: 1006-1014. PMID: 22842228, PMCID: PMC3432702, DOI: 10.1038/ng.2359.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overCase-Control StudiesDNA Mutational AnalysisExomeFemaleGene FrequencyGenetic Predisposition to DiseaseHumansMaleMelanomaMiddle AgedModels, MolecularMutationProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)Rac1 GTP-Binding ProteinSequence Analysis, DNASkin NeoplasmsUveal NeoplasmsConceptsSun-exposed melanomas