2024
Bayesian mixed model inference for genetic association under related samples with brain network phenotype
Tian X, Wang Y, Wang S, Zhao Y, Zhao Y. Bayesian mixed model inference for genetic association under related samples with brain network phenotype. Biostatistics 2024, 25: 1195-1209. PMID: 38494649, PMCID: PMC11639157, DOI: 10.1093/biostatistics/kxae008.Peer-Reviewed Original ResearchSample relatednessGenetic studiesGenetic association studiesRisk genetic variantsImaging genetics studiesPopulation structureAssociation studiesQuantitative phenotypesQuantitative geneticsGenetic basisGenetic variantsGenetic associationGenetic contributionPhenotypeRelatednessConnectivity traitsNetwork phenotypesConnectivity phenotypesMarkov chain Monte CarloMixed-effects modelsPedigreeGeneticsBiological structuresTraitsHuman Connectome Project
2010
L-Histidine Decarboxylase and Tourette's Syndrome
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. L-Histidine Decarboxylase and Tourette's Syndrome. New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.Peer-Reviewed Original ResearchConceptsRare functional mutationsL-histidine decarboxylaseRate-limiting enzymeHDC geneTwo-generation pedigreeFunctional mutationsStrong genetic contributionHistamine biosynthesisAnalysis of linkageGenetic contributionModel systemRisk allelesDevelopmental neuropsychiatric disordersDecarboxylaseBiosynthesisGenesTourette syndromeMutationsAllelesEnzymeInheritanceNeuropsychiatric disordersPedigree
2009
A sequencing‐based survey of functional APAF1 alleles in a large sample of individuals with affective illness and population controls
Amin Z, Kanarek K, Krupitsky E, Walderhaug E, Ilomäki R, Blumberg H, Price LH, Bhagwagar Z, Carpenter LL, Tyrka AR, Magnusson A, Landrø NI, Zvartau E, Gelernter J, Epperson CN, Räsänen P, Siironen J, Lappalainen J. A sequencing‐based survey of functional APAF1 alleles in a large sample of individuals with affective illness and population controls. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2009, 153B: 332-335. PMID: 19455599, PMCID: PMC3580167, DOI: 10.1002/ajmg.b.30984.Peer-Reviewed Original Research
2001
Test 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
1995
Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with tourette syndrome
Gelernter J, Rao P, Pauls D, Hamblin M, Sibley D, Kidd K. Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with tourette syndrome. Genomics 1995, 26: 207-209. PMID: 7601444, DOI: 10.1016/0888-7543(95)80202-w.Peer-Reviewed Original ResearchConceptsGenetic linkageSomatic cell hybridsInteresting candidate genesPairwise linkage analysisCell hybridsNovel serotonin receptorCandidate genesChromosome 10Linkage analysisSouthern blotGenesExtended pedigreesLOD scoreReceptor geneLociGenetic polymorphismsHTR7PolymorphismReceptorsLIPED computer programDNALinkageHybridizationNeuropsychiatric disordersPedigree
1993
Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis
Cummins T, Zhou J, Sigworth F, Ukomadu C, Stephan M, Ptáčk L, Agnew W. Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis. Neuron 1993, 10: 667-678. PMID: 8386527, DOI: 10.1016/0896-6273(93)90168-q.Peer-Reviewed Original ResearchConceptsHyperkalemic periodic paralysisFifth transmembrane segmentHuman embryonic kidney 293 cellsSingle base pair substitutionsEmbryonic kidney 293 cellsKidney 293 cellsBase pair substitutionsTransmembrane segmentsHuman mutationsChannel cDNARat channelHuman skeletal muscleFunctional consequencesPair substitutionsSecond domainCorresponding regionChannel mutationsGenetic defectsMutationsSkeletal musclePeriodic paralysisPatch-clamp recordingsCDNARat musclePedigree
1992
Regional localization of the selenocysteine tRNA gene (TRSP) on human chromosome 19
Mitchell A, Bale A, Lee B, Hatfield D, Harley H, Rundle S, Fan Y, Fukushima Y, Shows T, McBride O. Regional localization of the selenocysteine tRNA gene (TRSP) on human chromosome 19. Cytogenetic And Genome Research 1992, 61: 117-120. PMID: 1395717, DOI: 10.1159/000133385.Peer-Reviewed Original Research
1989
Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11
Bale S, Bale A, Stewart K, Dachowski L, McBride O, Glaser T, Green J, Mulvihill J, Brandi M, Sakaguchi K, Aurbach G, Marx S. Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11. Genomics 1989, 4: 320-322. PMID: 2565877, DOI: 10.1016/0888-7543(89)90336-4.Peer-Reviewed Original ResearchConceptsChromosome 11Skeletal muscle glycogen phosphorylasePolymorphic DNA (RAPD) markersMuscle glycogen phosphorylaseSingle large pedigreeDNA markersGene locusFibroblast growth factorBasic fibroblast growth factorMultiple endocrine neoplasia type 1Glycogen phosphorylaseLarge pedigreeGenesLociRecent findingsMultipoint analysisGrowth factorMEN1 geneMarkersINT2PedigreeMEN1 patientsPhosphorylaseType 1
1988
A linkage group of five DNA markers on human chromosome 10
Farrer L, Castiglione C, Kidd J, Myers S, Carson N, Simpson N, Kidd K. A linkage group of five DNA markers on human chromosome 10. Genomics 1988, 3: 72-77. PMID: 2906045, DOI: 10.1016/0888-7543(88)90162-0.Peer-Reviewed Original ResearchConceptsLinkage groupsDNA markersChromosome 10Recombination frequencySex-specific recombination frequenciesAccurate genetic mapHuman chromosome 10Three-locus analysisLong armChromosome 10 markersGenetic mapLinkage mapPericentric regionsMarker lociMap intervalPrevious localizationLinkage analysisProximal regionLociLarge pedigreeType 2APedigreeMultiple endocrine neoplasia type 2AD10S5Markers
1984
Identification of a recent recombination event within the human beta-globin gene cluster.
Gerhard D, Kidd K, Kidd J, Egeland J, Housman D. Identification of a recent recombination event within the human beta-globin gene cluster. Proceedings Of The National Academy Of Sciences Of The United States Of America 1984, 81: 7875-7879. PMID: 6096866, PMCID: PMC392255, DOI: 10.1073/pnas.81.24.7875.Peer-Reviewed Original ResearchConceptsBeta-globin gene clusterHuman beta-globin gene clusterGene clusterRecombination eventsChromosome 11DNA sequence polymorphismsRecent recombination eventsGenetic recombination eventsMeiotic crossingDNA regionsDNA markersC-Ha-rasSequence polymorphismsReference pedigreesCrossover eventsOncogene c-Ha-rasPreproparathyroid hormoneSegment 12PedigreeD11S12HaplotypesInheritanceClustersRegionHot spots
1983
Heritable aspects of uterine anomalies. II. Genetic analysis of Müllerian aplasia**Supported in part by grants from the March of Dimes Birth Defects Foundation and by NIH grants HD 11021 and HD 02841.
Carson S, Simpson J, Malinak L, Elias S, Gerbie A, Buttram V, Sarto G. Heritable aspects of uterine anomalies. II. Genetic analysis of Müllerian aplasia**Supported in part by grants from the March of Dimes Birth Defects Foundation and by NIH grants HD 11021 and HD 02841. Fertility And Sterility 1983, 40: 86-90. PMID: 6862043, DOI: 10.1016/s0015-0282(16)47182-7.Peer-Reviewed Original Research
1978
Research Designs for the Study of Gene-Environment Interactions in Psychiatric Disorders: Report of a Foundations Fund for Research in Psychiatry Panel
Kidd K, Matthysee S. Research Designs for the Study of Gene-Environment Interactions in Psychiatric Disorders: Report of a Foundations Fund for Research in Psychiatry Panel. JAMA Psychiatry 1978, 35: 925-932. PMID: 678045, DOI: 10.1001/archpsyc.1978.01770320019001.Peer-Reviewed Original ResearchConceptsGenetic variantsUnrelated individualsIndividual genetic variantsGenetic variationDifferent genetic variantsExtended pedigreesGenetic heterogeneityGene-environment interactionsGenetic hypothesisPhenotypeDiagnostic phenotypesFamilyGeneticsVariantsTraitsIndividual susceptibilitySpecific hypothesesSuch studiesHypothesisEnvironmental contributionsPedigreeGenotypesSusceptibility
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