2020
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix
Bonet-Fernández J, Aroca-Aguilar J, Corton M, Ramírez A, Alexandre-Moreno S, García-Antón M, Salazar J, Ferre-Fernández J, Atienzar-Aroca R, Villaverde C, Iancu I, Tamayo A, Méndez-Hernández C, Morales-Fernández L, Rojas B, Ayuso C, Coca-Prados M, Martinez-de-la-Casa J, García-Feijoo J, Escribano J. CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix. Human Genetics 2020, 139: 1209-1231. PMID: 32274568, DOI: 10.1007/s00439-020-02164-0.Peer-Reviewed Original ResearchMeSH KeywordsAdultalpha-MacroglobulinsAnimalsAnterior ChamberCase-Control StudiesComplement C3CRISPR-Cas SystemsEmbryo, NonmammalianExtracellular MatrixEye AbnormalitiesFemaleGene EditingGene ExpressionGenes, RecessiveGlaucomaHigh-Throughput Nucleotide SequencingHumansLoss of Function MutationMaleMiddle AgedPedigreeTrabecular MeshworkTrabeculectomyTrypsin Inhibitor, Kazal PancreaticZebrafishConceptsZebrafish embryosAnterior segment dysgenesisExtracellular matrixPrimary congenital glaucomaNext-generation DNA sequencingGross developmental abnormalitiesFunction pathogenic mechanismQuantitative reverse transcription PCRAbnormal extracellular matrixCongenital glaucomaCRISPR/Mesenchyme-like cellsTrabecular meshwork cellsReverse transcription-PCRUnknown functionExtracellular matrix disorganizationDNA sequencingGenesGenetic alterationsEmbryosMeshwork cellsDevelopmental abnormalitiesTranscription-PCRAnterior chamber angleDisease Role
2016
A comprehensive phylogeny of birds (Aves) using targeted next-generation DNA sequencing
Prum R, Berv J, Dornburg A, Field D, Townsend J, Lemmon E, Lemmon A. A comprehensive phylogeny of birds (Aves) using targeted next-generation DNA sequencing. Nature 2016, 534: s7-s8. DOI: 10.1038/nature19417.Peer-Reviewed Original ResearchMajor avian lineagesAvian lineagesSister groupSequence dataLiving birdsCretaceous–Palaeogene mass extinctionIdentical phylogenetic treesDivergence time analysesGenomic sequence dataSuccessive sister groupsMaximum likelihood analysisNext-generation DNA sequencingHybrid enrichmentNuclear lociAvian phylogenyCrown birdsComprehensive phylogenyMajor cladesEvolutionary historyMajor radiationPhylogenetic treeCladePhylogenyLikelihood analysisDNA sequencingIndoor microbial communities: Influence on asthma severity in atopic and nonatopic children
Dannemiller KC, Gent JF, Leaderer BP, Peccia J. Indoor microbial communities: Influence on asthma severity in atopic and nonatopic children. Journal Of Allergy And Clinical Immunology 2016, 138: 76-83.e1. PMID: 26851966, PMCID: PMC5357886, DOI: 10.1016/j.jaci.2015.11.027.Peer-Reviewed Original ResearchConceptsAsthma severityAtopic statusAtopic childrenNonatopic childrenLogistic regressionMicrobial exposureChildhood asthma severityCohort of childrenAsthmatic childrenAllergenic fungal speciesTotal fungal concentrationsSeverityHouse dustCryptococcus speciesExposure metricsChildrenT-testCohortQuantitative PCRFungal concentrationsAssociationExposureNext-generation DNA sequencingStatusRegression
2015
A comprehensive phylogeny of birds (Aves) using targeted next-generation DNA sequencing
Prum RO, Berv JS, Dornburg A, Field DJ, Townsend JP, Lemmon EM, Lemmon AR. A comprehensive phylogeny of birds (Aves) using targeted next-generation DNA sequencing. Nature 2015, 526: 569-573. PMID: 26444237, DOI: 10.1038/nature15697.Peer-Reviewed Original ResearchInfluence of housing characteristics on bacterial and fungal communities in homes of asthmatic children
Dannemiller KC, Gent JF, Leaderer BP, Peccia J. Influence of housing characteristics on bacterial and fungal communities in homes of asthmatic children. Indoor Air 2015, 26: 179-192. PMID: 25833176, PMCID: PMC4591094, DOI: 10.1111/ina.12205.Peer-Reviewed Original ResearchConceptsHousing characteristicsCommunity structureFungal community structureAC usePresence of petsBacterial community structureIndoor microbial communitiesBeneficial bacterial taxaNext-generation DNA sequencingAir conditioning useMicrobial assemblyFungal communitiesMicrobial ecologyCommunity compositionMicrobial communitiesBacterial communitiesBacterial taxaSpecies segregationLevel of urbanizationMicrobial richnessOccupancy characteristicsSuburban homesWater leaksSouthern New EnglandOccupant characteristics
2011
Characterizing complex structural variation in germline and somatic genomes
Quinlan AR, Hall IM. Characterizing complex structural variation in germline and somatic genomes. Trends In Genetics 2011, 28: 43-53. PMID: 22094265, PMCID: PMC3249479, DOI: 10.1016/j.tig.2011.10.002.Peer-Reviewed Original ResearchConceptsComplex structural variationsStructural variationsNext-generation DNA sequencingHallmarks of cancerSomatic genomeGenetic diversityMultiple chromosomesSingle locusDistinct lociRecombination eventsComplex variantsSingle mutationMapping experimentsDNA sequencingComplicated rearrangementsMammalsCurrent knowledgeMapping studiesLociSubtle alterationsVariantsGenomeSurprising numberChromosomesGermline
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