2014
A Form of the Metabolic Syndrome Associated with Mutations in DYRK1B
Keramati AR, Fathzadeh M, Go GW, Singh R, Choi M, Faramarzi S, Mane S, Kasaei M, Sarajzadeh-Fard K, Hwa J, Kidd KK, Babaee Bigi MA, Malekzadeh R, Hosseinian A, Babaei M, Lifton RP, Mani A. A Form of the Metabolic Syndrome Associated with Mutations in DYRK1B. New England Journal Of Medicine 2014, 370: 1909-1919. PMID: 24827035, PMCID: PMC4069260, DOI: 10.1056/nejmoa1301824.Peer-Reviewed Original ResearchConceptsKinase-like domainMapping susceptibility genesHistidine 90Disease-causing genesFunctional characterizationDisease genesDYRK1BKey gluconeogenic enzymesGenetic analysisCardiovascular risk traitsWhole-exome sequencingDistinct familiesLinkage analysisSecond mutationPosition 102Susceptibility genesFamily membersLarge familyGenesCausative mutationsUnaffected family membersMutationsFunction activityAffected family membersGluconeogenic enzymes
2011
Rare BRCA1 haplotypes including 3’UTR SNPs associated with breast cancer risk
Pelletier C, Speed WC, Paranjape T, Keane K, Blitzblau R, Hollestelle A, Safavi K, van den Ouweland A, Zelterman D, Slack FJ, Kidd KK, Weidhaas JB. Rare BRCA1 haplotypes including 3’UTR SNPs associated with breast cancer risk. Cell Cycle 2011, 10: 90-99. PMID: 21191178, PMCID: PMC3048078, DOI: 10.4161/cc.10.1.14359.Peer-Reviewed Original ResearchConceptsGenetic markersRare haplotypesNew genetic markersBRCA1 3'UTRSequence mutationsMicroRNA bindingFunctional variantsSuch polymorphismsHaplotypesMutationsBRCA1Haplotype analysisPolymorphismSNPsRegion polymorphismsVariantsFunctional polymorphismsBreast cancer subtypesCancer subtypesMarkersBRCA1 haplotypeMiRNALarge populationBRCA1 mutationsBinding
2004
The Genetic Architecture of Selection at the Human Dopamine Receptor D4 (DRD4) Gene Locus
Wang E, Ding Y, Flodman P, Kidd J, Kidd K, Grady D, Ryder O, Spence M, Swanson J, Moyzis R. The Genetic Architecture of Selection at the Human Dopamine Receptor D4 (DRD4) Gene Locus. American Journal Of Human Genetics 2004, 74: 931-944. PMID: 15077199, PMCID: PMC1181986, DOI: 10.1086/420854.Peer-Reviewed Original ResearchConceptsLittle linkage disequilibriumHuman dopamine receptor D4 genePolymorphic sitesDNA sequence organizationMost polymorphic sitesPatterns of recombinationObserved LD patternRare mutational eventsDRD4 locusGenetic architectureHaplotype diversityPositive selectionMore polymorphismsSequence organizationGene locusTandem repeatsMutational eventsLD patternsLinkage disequilibriumDopamine receptor D4 geneLociPhysiological differencesSame alleleReceptor variantsAlleles
2000
Worldwide Genetic Analysis of the CFTR Region
Mateu E, Calafell F, Lao O, Bonné-Tamir B, Kidd J, Pakstis A, Kidd K, Bertranpetit J. Worldwide Genetic Analysis of the CFTR Region. American Journal Of Human Genetics 2000, 68: 103-117. PMID: 11104661, PMCID: PMC1234903, DOI: 10.1086/316940.Peer-Reviewed Original ResearchConceptsCystic fibrosis transmembrane conductance regulator (CFTR) geneShort tandem repeat polymorphismsSingle nucleotide polymorphismsLinkage disequilibriumHaplotype backgroundTransmembrane conductance regulator geneWorldwide population samplesModern human populationsHaplotype variationHigh heterozygosityCFTR regionOut of AfricaRegulator geneSevere genetic disorderGenetic analysisMutation rateDifferent haplotypesAncestral haplotypeAllele sizeOutcome of differencesSNP haplotypesLD analysisNon-AfricansHaplotypesLD measuresThe Accuracy of Statistical Methods for Estimation of Haplotype Frequencies: An Example from the CD4 Locus
Tishkoff S, Pakstis A, Ruano G, Kidd K. The Accuracy of Statistical Methods for Estimation of Haplotype Frequencies: An Example from the CD4 Locus. American Journal Of Human Genetics 2000, 67: 518-522. PMID: 10859209, PMCID: PMC1287198, DOI: 10.1086/303000.Peer-Reviewed Original Research
1998
Genetic Structure of the Ancestral Population of Modern Humans
Ziętkiewicz E, Yotova V, Jarnik M, Korab-Laskowska M, Kidd K, Modiano D, Scozzari R, Stoneking M, Tishkoff S, Batzer M, Labuda D. Genetic Structure of the Ancestral Population of Modern Humans. Journal Of Molecular Evolution 1998, 47: 146-155. PMID: 9694663, DOI: 10.1007/pl00006371.Peer-Reviewed Original ResearchConceptsNucleotide diversityAncestral populationsNeutral DNA polymorphismsOverall nucleotide diversityPopulation-specific variantsOld polymorphismsGenetic structureAncestral stateHuman divergenceOrthologous sitesGenetic variabilityDNA polymorphismsNew allelesHuman variantsPolymorphic sitesNon-AfricansWorldwide sampleGreat apesEffective sizeModern humansHuman groupsDiversityPolymorphismDivergenceNew GuineaA Global Haplotype Analysis of the Myotonic Dystrophy Locus: Implications for the Evolution of Modern Humans and for the Origin of Myotonic Dystrophy Mutations
Tishkoff S, Goldman A, Calafell F, Speed W, Deinard A, Bonne-Tamir B, Kidd J, Pakstis A, Jenkins T, Kidd K. A Global Haplotype Analysis of the Myotonic Dystrophy Locus: Implications for the Evolution of Modern Humans and for the Origin of Myotonic Dystrophy Mutations. American Journal Of Human Genetics 1998, 62: 1389-1402. PMID: 9585589, PMCID: PMC1377140, DOI: 10.1086/301861.Peer-Reviewed Original ResearchConceptsNon-African populationsHaplotype diversityMyotonic dystrophy locusRecent African origin modelLinkage disequilibriumMyotonic dystrophy mutationModern human evolutionModern humansGlobal haplotype analysisMutation eventsStrong linkage disequilibriumNonhuman primate speciesPrimate speciesHuman evolutionHuman populationShared patternLong CAG/CTG repeats in mice
King B, Sirugo G, Nadeau J, Hudson T, Kidd K, Kacinski B, Schalling M. Long CAG/CTG repeats in mice. Mammalian Genome 1998, 9: 392-393. PMID: 9545500, DOI: 10.1007/s003359900778.Peer-Reviewed Original ResearchOA1 Mutations and Deletions in X-Linked Ocular Albinism
Schnur R, Gao M, Wick P, Keller M, Benke P, Edwards M, Grix A, Hockey A, Jung J, Kidd K, Kistenmacher M, Levin A, Lewis R, Musarella M, Nowakowski R, Orlow S, Pagon R, Pillers D, Punnett H, Quinn G, Tezcan K, Wagstaff J, Weleber R. OA1 Mutations and Deletions in X-Linked Ocular Albinism. American Journal Of Human Genetics 1998, 62: 800-809. PMID: 9529334, PMCID: PMC1377018, DOI: 10.1086/301776.Peer-Reviewed Original Research
1997
Survey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method
Sirugo G, Deinard A, Kidd J, Kidd K. Survey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method. Human Molecular Genetics 1997, 6: 403-408. PMID: 9147643, DOI: 10.1093/hmg/6.3.403.Peer-Reviewed Original ResearchConceptsCTG/CAGPygmy chimpanzeesCommon chimpanzeesRepeat lengthRandom genetic driftOrang-utansHuman populationDisease association studiesGenetic driftHuman genomeOverall mutation rateGenome scanAssociation studiesMutation rateBiaka PygmiesExpansion mutationRepeat expansionTotal genome scanPopulation differencesPopulation stratificationNon-human primatesRepeat expansion detection (RED) methodExpansion detectionChimpanzeesMutations
1990
The mutation for medullary thyroid carcinoma with parathyroid tumors (MTC with PTs) is closely linked to the centromeric region of chromosome 10.
Carson N, Wu J, Jackson C, Kidd K, Simpson N. The mutation for medullary thyroid carcinoma with parathyroid tumors (MTC with PTs) is closely linked to the centromeric region of chromosome 10. American Journal Of Human Genetics 1990, 47: 946-51. PMID: 1978560, PMCID: PMC1683917.Peer-Reviewed Original Research
1987
Population genetics of a disease
Kidd K. Population genetics of a disease. Nature 1987, 327: 282-283. PMID: 2884567, DOI: 10.1038/327282a0.Peer-Reviewed Original Research