Featured Publications
Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia
del Viso F, Huang F, Myers J, Chalfant M, Zhang Y, Reza N, Bewersdorf J, Lusk CP, Khokha MK. Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia. Developmental Cell 2016, 38: 478-492. PMID: 27593162, PMCID: PMC5021619, DOI: 10.1016/j.devcel.2016.08.002.Peer-Reviewed Original ResearchConceptsNuclear pore complexPore complexCiliary pore complexLeft-right patterningBarrel-like structureNPC functionEmbryonic developmentCandidate genesNup188Human genomicsNanoscale organizationNucleoporinsDirect roleSuper-resolution imagingCiliaLoss of ciliaNup93GenomicsComplexesGenesKnockdownDuplicationPatterningMechanism
2024
Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan
Azab B, Aburizeg D, Shaaban S, Ji W, Mustafa L, Isbeih N, Al-Akily A, Mohammad H, Jeffries L, Khokha M, Lakhani S, Al-Ammouri I. Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan. Scientific Reports 2024, 14: 15141. PMID: 38956129, PMCID: PMC11219879, DOI: 10.1038/s41598-024-64921-9.Peer-Reviewed Original ResearchConceptsExome sequencingSarcomere-related genesMitochondrial-related diseasesAt-risk family membersGenetic architectureGenetic landscapePathogenic variantsGene panelPediatric cardiomyopathyMolecular underpinningsGenetic testingPhenocopiesSarcomeric cardiomyopathiesGenesSequenceStorage disorderFamily membersAt-riskVariantsEarly interventionExomeFamilyGlycogen storage disorderHypertrophic cardiomyopathyCardiomyopathy
2022
Discovering the Function of Congenital Heart Disease Genes
González D, Khokha M. Discovering the Function of Congenital Heart Disease Genes. 2022, 233-244. DOI: 10.1201/9781003050230-19.Peer-Reviewed Original ResearchLarger brood sizesCongenital heart disease genesCommon congenital birth defectHeart disease genesCongenital heart diseaseLeft-right axisCHD genesCell biologistsOrgan situsBrood sizeLeft-right asymmetryDe novo mutationsDisease genesSequencing studiesBirth defectsCongenital birth defectsGenetic diseasesGenesNovo mutationsDisease mechanismsStructural cardiac abnormalitiesNovel de novo mutationHeart diseaseCardiac abnormalitiesCardiac structure
2016
Measuring Absolute RNA Copy Numbers at High Temporal Resolution Reveals Transcriptome Kinetics in Development
Owens NDL, Blitz IL, Lane MA, Patrushev I, Overton JD, Gilchrist MJ, Cho KWY, Khokha MK. Measuring Absolute RNA Copy Numbers at High Temporal Resolution Reveals Transcriptome Kinetics in Development. Cell Reports 2016, 14: 632-647. PMID: 26774488, PMCID: PMC4731879, DOI: 10.1016/j.celrep.2015.12.050.Peer-Reviewed Original ResearchConceptsQuantitative biologyCell fate decisionsGene expression trajectoriesCommon gene functionsEmbryonic transcriptsFate decisionsGene functionTranscript regulationAbsolute transcript numbersExpression dynamicsTranscriptome kineticsEmbryonic developmentXenopus embryosExpression trajectoriesCellular metabolismGene expressionTranscript numbersUnprecedented insightsCell functionGenesBiologySynexpressionMisregulationTranscriptomeDevelopmental period