2024
High-throughput assays to assess variant effects on disease
Ma K, Gauthier L, Cheung F, Huang S, Lek M. High-throughput assays to assess variant effects on disease. Disease Models & Mechanisms 2024, 17: dmm050573. PMID: 38940340, PMCID: PMC11225591, DOI: 10.1242/dmm.050573.Peer-Reviewed Original ResearchConceptsDeep mutational scanningGenetic variantsRare disease diagnosticsRare genetic variantsDisease mechanismsHigh-throughput assaySequencing effortsInvestigation of variantsMutational scanningModel cell lineVariant effectsMolecular toolsCell linesCell survival rateFunctional assaysDrug resistanceDisease diagnosticsDisease-relevant assaysVariantsClinical case reportBiological mechanismsAssayCase reportClinical reportsSurvival rate
2018
Genetic Insights Into ADHD Biology
Hayman V, Fernandez TV. Genetic Insights Into ADHD Biology. Frontiers In Psychiatry 2018, 9: 251. PMID: 29930523, PMCID: PMC5999780, DOI: 10.3389/fpsyt.2018.00251.Peer-Reviewed Original ResearchGenome-wide sequencing effortsInteractive gene networksGene discoverySequencing effortsGene networksCandidate genesGenetic insightsExpression patternsBiological pathwaysGenesBiological networksGenetic contributionBiologyPathwayImportant insightsNominal statistical significanceEnrichmentGeneticsBiological underpinningsSynthaseNitric oxide synthaseNeurobiological disorderInsightsHuman developmentExpression
2016
A pivot mutation impedes reverse evolution across an adaptive landscape for drug resistance in Plasmodium vivax
Ogbunugafor C, Hartl D. A pivot mutation impedes reverse evolution across an adaptive landscape for drug resistance in Plasmodium vivax. Malaria Journal 2016, 15: 40. PMID: 26809718, PMCID: PMC4727274, DOI: 10.1186/s12936-016-1090-3.Peer-Reviewed Original ResearchConceptsEpistatic interactionsAdaptive landscapeCompensatory mutationsFitness effects of individual mutationsDynamics of evolutionResistance patternsGenome sequencing effortsEffects of individual mutationsWild type ancestorsPopulations of pathogensLocal fitness peaksPlasmodium vivaxResistance proteinReverse evolutionSequencing effortsAncestral genotypesDouble mutantResistance-associated markersQuadruple mutantPolymorphic populationsGenomic signaturesIndividual mutationsSingle mutationsSusceptible phenotypeWild type
2007
Physical mapping of the IGF2 locus in the South American opossum Monodelphis domestica
Lawton BR, Obergfell C, O’Neill R, O’Neill M. Physical mapping of the IGF2 locus in the South American opossum Monodelphis domestica. Cytogenetic And Genome Research 2007, 116: 130-131. PMID: 17268191, DOI: 10.1159/000097431.Peer-Reviewed Original ResearchConceptsSouth American opossum Monodelphis domesticaGenomic imprintingLarge-scale genome sequencing effortsOpossum Monodelphis domesticaGenome sequencing effortsInsulin-like growth factor II geneMonodelphis domesticaGrowth factor II geneFactor II geneGene functionModel organismsGene regulationSequencing effortsPhysical mappingIGF2 locusRegulatory mechanismsM. domesticaMarsupialsDomesticaImprintingRegulationGenesLociOrganismsMechanism
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