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
2006
Sub‐Saharan African coding sequence variation and haplotype diversity at the NAT2 gene
Patin E, Harmant C, Kidd K, Kidd J, Froment A, Mehdi S, Sica L, Heyer E, Quintana‐Murci L. Sub‐Saharan African coding sequence variation and haplotype diversity at the NAT2 gene. Human Mutation 2006, 27: 720-720. PMID: 16786516, DOI: 10.1002/humu.9438.Peer-Reviewed Original ResearchConceptsNon-synonymous mutationsNovel non-synonymous mutationsEvolutionary conservationDetailed genetic characterizationIndividuals/populationsHaplotype diversityAgriculturalist populationsSequence variationProtein activityAfrican populationsWestern PygmiesAfrican haplotypesGenetic characterizationUnknown functional effectsGenesFunctional effectsNAT2 geneHaplotype frequenciesSub-Saharan African populationsMutationsChromosomesDamaging effectsLociPopulationProtein
2001
Mitochondrial DNA variation and biogeography of eastern gorillas
Jensen‐Seaman M, Kidd K. Mitochondrial DNA variation and biogeography of eastern gorillas. Molecular Ecology 2001, 10: 2241-2247. PMID: 11555266, DOI: 10.1046/j.0962-1083.2001.01365.x.Peer-Reviewed Original ResearchConceptsMitochondrial DNA variationDNA variationEastern gorillasD-loop haplotypesFirst hypervariable segmentPopulation bottlenecksDistinct cladesGenetic diversityControl regionD-loopHypervariable segmentCladeLast Glacial MaximumGorillasForest reductionHaplotypesGlacial MaximumBiogeographyEast AfricaGlobal coolingDiversityMutationsLow levelsVariationFragmentation
1999
Allele Frequencies in a Worldwide Survey of a CA Repeat in the First Intron of the CFTR Gene
Mateu E, Calafell F, Bonné-Tamir B, Kidd J, Casals T, Kidd K, Bertranpetit J. Allele Frequencies in a Worldwide Survey of a CA Repeat in the First Intron of the CFTR Gene. Human Heredity 1999, 49: 15-20. PMID: 9858852, DOI: 10.1159/000022834.Peer-Reviewed Original ResearchConceptsCFTR geneIntron 1Allele frequenciesMolecular varianceGenetic varianceFirst intronDinucleotide CACA repeatsGenesCF mutationsHaplotypic analysisMutationsMajor geographical areasAfrican populationsUnknown mutationsAllele distributionPolymorphismCystic fibrosisIntronsChromosomesRepeatsGeographical regionsLociHeterozygosityPopulation
1998
Network Analyses of Y-Chromosomal Types in Europe, Northern Africa, and Western Asia Reveal Specific Patterns of Geographic Distribution
Malaspina P, Cruciani F, Ciminelli B, Terrenato L, Santolamazza P, Alonso A, Banyko J, Brdicka R, García O, Gaudiano C, Guanti G, Kidd K, Lavinha J, Avila M, Mandich P, Moral P, Qamar R, Mehdi S, Ragusa A, Stefanescu G, Caraghin M, Tyler-Smith C, Scozzari R, Novelletto A. Network Analyses of Y-Chromosomal Types in Europe, Northern Africa, and Western Asia Reveal Specific Patterns of Geographic Distribution. American Journal Of Human Genetics 1998, 63: 847-860. PMID: 9718330, PMCID: PMC1377388, DOI: 10.1086/301999.Peer-Reviewed Original ResearchConceptsExtant human populationsTotal diversityChromosomal lineagesLength variantsDinucleotide microsatellitesY chromosomeCommon descentPhenetic relationshipsGeographic distributionNorthern AfricaHaplotypesHuman populationLineagesDinucleotide unitsRapid generationDiversityWestern AsiaNetwork analysisChromosomesMicrosatellitesSpecific patternsOptimal markerReliable frequency estimatesMutationsExtinction
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
1996
Dynamics of the haplotype frequencies in populations: study using the Monte Carlo method.
Grigorenko E, Shikanian A, Kidd D, Dorig R, Kidd K. Dynamics of the haplotype frequencies in populations: study using the Monte Carlo method. Genetika 1996, 32: 1705-13. PMID: 9102365.Peer-Reviewed Original ResearchConceptsNatural selectionEffective population sizeRandom genetic driftMonte Carlo methodHaplotype frequenciesGenetic driftRandom matingEvolutionary dynamicsCarlo methodPopulation sizeRecurrent mutationsMutation processHarmonic meanFrequency dynamicsDifferent populationsSimulation resultsExperimental dataDynamicsMatingPopulationMutationsHaplotypesAllelesColonizationNew World colonization
1995
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
Baldwin C, Weiss S, Farrer L, De Stefano A, Adair R, Franklyn B, Kidd K, Korostishevsky M, Bonné-Tamir B. Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Human Molecular Genetics 1995, 4: 1637-1642. PMID: 8541853, DOI: 10.1093/hmg/4.9.1637.Peer-Reviewed Original ResearchConceptsHuman chromosome 7q31Genetic linkage analysisNon-syndromic deafnessChromosomal locationGene locationNon-syndromic formsRecessive non-syndromic deafnessLinkage analysisChromosome 7q31Nonallelic mutationsGenetic isolateLarge familyLOD scoreGenetic heterogeneityGenetic causeRecessive deafnessGenesRecognizable phenotypeFirst evidenceDruze familyFamilyAffected individualsSpecific patternsMutationsPhenotype