2025
Recessive genetic contribution to congenital heart disease in 5,424 probands
Dong W, Jin S, Sierant M, Lu Z, Li B, Lu Q, Morton S, Zhang J, López-Giráldez F, Nelson-Williams C, Knight J, Zhao H, Cao J, Mane S, Gruber P, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor J, Cnota J, Wagner M, Srivastava D, Bernstein D, Porter G, Newburger J, Roberts A, Yandell M, Yost H, Tristani-Firouzi M, Kim R, Seidman J, Chung W, Gelb B, Seidman C, Lifton R, Brueckner M. Recessive genetic contribution to congenital heart disease in 5,424 probands. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2419992122. PMID: 40030011, PMCID: PMC11912448, DOI: 10.1073/pnas.2419992122.Peer-Reviewed Original ResearchConceptsRecessive genotypeCHD probandsCongenital heart diseaseAssociated with laterality defectsGene-based analysisAnalyzed whole-exome sequencingLeft-sided congenital heart diseaseWhole-exome sequencingCongenital heart disease phenotypeAshkenazi Jewish probandsOffspring of consanguineous unionsSingle-cell transcriptomicsCHD geneExome sequencingMouse notochordSecreted proteinsConsanguineous familyFounder variantGenesSignificant enrichmentLaterality phenotypesHeart diseaseProbandsAbnormal contractile functionConsanguineous unions
2024
Enhancing patient representation learning with inferred family pedigrees improves disease risk prediction
Huang X, Arora J, Erzurumluoglu A, Stanhope S, Lam D, Arora J, Erzurumluoglu A, Lam D, Khoueiry P, Jensen J, Cai J, Lawless N, Kriegl J, Ding Z, de Jong J, Zhao H, Ding Z, Wang Z, de Jong J. Enhancing patient representation learning with inferred family pedigrees improves disease risk prediction. Journal Of The American Medical Informatics Association 2024, 32: 435-446. PMID: 39723811, PMCID: PMC11833479, DOI: 10.1093/jamia/ocae297.Peer-Reviewed Original ResearchConceptsElectronic health recordsDisease risk predictionElectronic health record researchFamily health historyGenetic aspects of diseaseRisk predictionInflammatory bowel disease subtypeHealth recordsHealth historyAspects of diseaseFamily relationsHealthcare ResearchPatient's disease riskInfluence of geneticsDisease riskDiagnosis dataFamily pedigreeEnvironmental exposuresRisk factorsDisease dependencyPatient representation learningClinical profileFamilyDisease subtypesRisk
2001
On Relationship Inference Using Gamete Identity by Descent Data
Zhao H, Liang F. On Relationship Inference Using Gamete Identity by Descent Data. Journal Of Computational Biology 2001, 8: 191-200. PMID: 11454305, DOI: 10.1089/106652701300312940.Peer-Reviewed Original ResearchTest of Association for Quantitative Traits in General Pedigrees: The Quantitative Pedigree Disequilibrium Test
Zhang S, Zhang K, Li J, Sun F, Zhao H. Test of Association for Quantitative Traits in General Pedigrees: The Quantitative Pedigree Disequilibrium Test. Genetic Epidemiology 2001, 21: s370-s375. PMID: 11793701, DOI: 10.1002/gepi.2001.21.s1.s370.Peer-Reviewed Original ResearchConceptsQuantitative pedigree disequilibrium testPedigree disequilibrium testQuantitative traitsTraits of interestGenetic Analysis Workshop 12Disequilibrium testGeneral pedigreesSequence dataCandidate genesGenetic markersGenetic linkageQualitative traitsLinkage disequilibriumTraitsLarge pedigreePresence of linkagePedigreeStatistical methodsFamilyNuclear familiesTests of associationGenesUnrelated nuclear familiesLinkageDisequilibrium
2000
Transmission/disequilibrium tests for quantitative traits.
Sun F, Flanders W, Yang Q, Zhao H. Transmission/disequilibrium tests for quantitative traits. Annals Of Human Genetics 2000, 64: 555-65. PMID: 11281218, DOI: 10.1017/s000348000000840x.Peer-Reviewed Original ResearchMultipoint Genetic Mapping with Uniparental Disomy Data
Zhao H, Li J, Robinson W. Multipoint Genetic Mapping with Uniparental Disomy Data. American Journal Of Human Genetics 2000, 67: 851-861. PMID: 10958760, PMCID: PMC1287890, DOI: 10.1086/303072.Peer-Reviewed Original Research
1999
On a Randomization Procedure in Linkage Analysis
Zhao H, Merikangas K, Kidd K. On a Randomization Procedure in Linkage Analysis. American Journal Of Human Genetics 1999, 65: 1449-1456. PMID: 10521312, PMCID: PMC1288298, DOI: 10.1086/302607.Peer-Reviewed Original ResearchConceptsEfficient simulation procedureObserved test statisticSimulation-based methodTheoretical resultsTest statisticNovel simulation methodSimulation methodReal dataSimulation procedureUninformative markersTheoretical workStatistical testsPedigree structureGenomewide significance levelRandomization procedureDiabetes dataStatistics
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