2014
Monoallelic expression of the human FOXP2 speech gene
Adegbola AA, Cox GF, Bradshaw EM, Hafler DA, Gimelbrant A, Chess A. Monoallelic expression of the human FOXP2 speech gene. Proceedings Of The National Academy Of Sciences Of The United States Of America 2014, 112: 6848-6854. PMID: 25422445, PMCID: PMC4460484, DOI: 10.1073/pnas.1411270111.Peer-Reviewed Original ResearchMeSH KeywordsApraxiasComparative Genomic HybridizationFemaleForkhead Transcription FactorsGene Expression ProfilingGene Expression Regulation, DevelopmentalGenes, X-LinkedHumansPolymorphism, Single NucleotideReverse Transcriptase Polymerase Chain ReactionSequence Analysis, DNASequence DeletionSpeechX Chromosome InactivationConceptsRandom monoallelic expressionMonoallelic expressionAllele-specific expressionNumber of genesHuman Mendelian disordersForkhead box P2 (FOXP2) geneP2 geneAutosomal genesMore genesAutosomal genomeX chromosomeGene expressionHaploinsufficiency phenotypeMendelian disordersGenesDevelopmental verbal dyspraxiaFOXP2 mutationsIntriguing possibilityFOXP2 geneExpressionRecent descriptionMutationsVerbal dyspraxiaAutosomesGenome
2010
Chapter 3 Uncovering the Genetic Architecture of Multiple Sclerosis
De Jager P, Hafler D. Chapter 3 Uncovering the Genetic Architecture of Multiple Sclerosis. Blue Books Of Neurology 2010, 35: 43-56. DOI: 10.1016/b978-1-4160-6068-0.00003-6.Peer-Reviewed Original ResearchGenetic architectureSusceptibility lociWhole-genome association scansCommon human diseasesMajor histocompatibility complexMultiple sclerosis geneticsCommon genetic variationAssociation scanHuman genomeGenetic variationSingle locusHuman diseasesLociFirst glimpseCurrent discoveriesHistocompatibility complexGenotyped subjectsGenetic susceptibilityGenomeRapid progressHuman leukocyte antigenGeneticsHapMapConvergence of resourcesMultiple sclerosis
2005
Applying a new generation of genetic maps to understand human inflammatory disease
Hafler DA, Jager P. Applying a new generation of genetic maps to understand human inflammatory disease. Nature Reviews Immunology 2005, 5: 83-91. PMID: 15630431, DOI: 10.1038/nri1532.Peer-Reviewed Original Research
2003
Genetic analysis of multiple sclerosis
Walsh EC, Guschwan-McMahon S, Daly MJ, Hafler DA, Rioux JD. Genetic analysis of multiple sclerosis. Journal Of Autoimmunity 2003, 21: 111-116. PMID: 12935779, DOI: 10.1016/s0896-8411(03)00094-5.Peer-Reviewed Original ResearchConceptsComplementary genetic approachesComplex diseasesHuman genomeGenetic variationGenetic approachesSuch lociGenetic analysisSignificant genetic contributionGenetic variantsGenetic contributionAdditional statistical powerRecent important advancesGenetic causeModest effectLociMeta-analytical approachCTLA-4 variantsGenomeGenetic riskVariantsImportant advancesStatistical powerFuture studiesMS resultsAdvances