2020
FrogAncestryCalc: A standalone batch likelihood computation tool for ancestry inference panels catalogued in FROG-kb
Rajeevan H, Soundararajan U, Pakstis AJ, Kidd KK. FrogAncestryCalc: A standalone batch likelihood computation tool for ancestry inference panels catalogued in FROG-kb. Forensic Science International Genetics 2020, 46: 102237. PMID: 31991337, DOI: 10.1016/j.fsigen.2020.102237.Peer-Reviewed Original Research
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 enzymesProgress toward an efficient panel of SNPs for ancestry inference
Kidd KK, Speed WC, Pakstis AJ, Furtado MR, Fang R, Madbouly A, Maiers M, Middha M, Friedlaender FR, Kidd JR. Progress toward an efficient panel of SNPs for ancestry inference. Forensic Science International Genetics 2014, 10: 23-32. PMID: 24508742, DOI: 10.1016/j.fsigen.2014.01.002.Peer-Reviewed Original Research
2004
Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region
Paschou P, Feng Y, Pakstis A, Speed W, DeMille M, Kidd J, Jaghori B, Kurlan R, Pauls D, Sandor P, Barr C, Kidd K. Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region. American Journal Of Human Genetics 2004, 75: 545-560. PMID: 15303240, PMCID: PMC1182043, DOI: 10.1086/424389.Peer-Reviewed Original ResearchMeSH KeywordsC-Reactive ProteinChromosome MappingChromosomes, Human, Pair 17Gene FrequencyGenetic LinkageGenetic Predisposition to DiseaseGenotypeHaplotypesHumansLinkage DisequilibriumLod ScoreMicrosatellite RepeatsMicrotubule-Associated ProteinsNerve Tissue ProteinsPedigreePolymorphism, Single NucleotideTourette SyndromeWhite PeopleConceptsSingle nucleotide polymorphismsLinkage disequilibriumSusceptibility regionsThree-site haplotypesPutative susceptibility regionsBackground linkage disequilibriumSignificant association resultsIndication of linkageNonparametric LOD scoreGenomic regionsThree-marker haplotypeComplex genetic backgroundAdditional microsatellite markersFine mappingGenetic basisHigher LD valuesMicrosatellite markersExpression profilesAssociation resultsTransmission/disequilibrium testChromosome 17Genetic componentGenetic backgroundGenesLOD score
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 dataStatisticsGenome scan for linkage to Gilles de la Tourette syndrome
Barr C, Wigg K, Pakstis A, Kurlan R, Pauls D, Kidd K, Tsui L, Sandor P. Genome scan for linkage to Gilles de la Tourette syndrome. American Journal Of Medical Genetics 1999, 88: 437-445. PMID: 10402514, DOI: 10.1002/(sici)1096-8628(19990820)88:4<437::aid-ajmg24>3.0.co;2-e.Peer-Reviewed Original ResearchGenealogy reconstruction from short tandem repeat genotypes in an Amazonian population
Calafell F, Shuster A, Speed W, Kidd J, Black F, Kidd K. Genealogy reconstruction from short tandem repeat genotypes in an Amazonian population. American Journal Of Biological Anthropology 1999, 108: 137-146. PMID: 9988377, DOI: 10.1002/(sici)1096-8644(199902)108:2<137::aid-ajpa1>3.0.co;2-k.Peer-Reviewed Original Research
1997
A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1
Breschel T, McInnis M, Margolis R, Sirugo G, Corneliussen B, Simpson S, McMahon F, MacKinnon D, Xu J, Pleasant N, Huo Y, Ashworth R, Grundstrom C, Grundstrom T, Kidd K, DePaulo J, Ross C. A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1. Human Molecular Genetics 1997, 6: 1855-1863. PMID: 9302263, DOI: 10.1093/hmg/6.11.1855.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBase SequenceBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsBipolar DisorderBlotting, SouthernCell LineChromosomes, Human, Pair 18Cloning, MolecularDNA-Binding ProteinsFemaleGene FrequencyHelix-Loop-Helix MotifsHumansIntronsMaleMolecular Sequence DataPedigreeSequence AnalysisTCF Transcription FactorsTrans-ActivatorsTranscription Factor 4Transcription Factor 7-Like 2 ProteinTranscription FactorsTrinucleotide RepeatsConceptsCEPH reference pedigreesSouthern blot analysisReference pedigreesUnstable alleleDNA binding proteinTriplet repeat mutationBlot analysisCTG repeatsTranscriptional regulationGenomic digestsHuman chromosomesKb cloneStable allelesCandidate genesAbnormal phenotypeBinding proteinRepeatsRepeat lociBipolar pedigreesGenesChromosome 18q21.1Repeat mutationsSomatic mutationsIntronsAllelesDetection of a large CTG/CAG trinucleotide repeat expansion in a Danish schizophrenia kindred
Sirugo G, Pakstis A, Kidd K, Matthysse S, Levy D, Holzman P, Párnas J, McInnis M, Breschel T, Ross C. Detection of a large CTG/CAG trinucleotide repeat expansion in a Danish schizophrenia kindred. American Journal Of Medical Genetics 1997, 74: 546-548. PMID: 9342210, DOI: 10.1002/(sici)1096-8628(19970919)74:5<546::aid-ajmg19>3.0.co;2-c.Peer-Reviewed Original ResearchHomozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.
Iyengar S, Kalinsky H, Weiss S, Korostishevsky M, Sadeh M, Zhao Y, Kidd K, Bonne-Tamir B. Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease. Journal Of Medical Genetics 1997, 34: 391. PMID: 9152836, PMCID: PMC1050946, DOI: 10.1136/jmg.34.5.391.Peer-Reviewed Original ResearchConcerted evolution of the tandemly repeated genes encoding human U2 snRNA (the RNU2 locus) involves rapid intrachromosomal homogenization and rare interchromosomal gene conversion
Liao D, Pavelitz T, Kidd J, Kidd K, Weiner A. Concerted evolution of the tandemly repeated genes encoding human U2 snRNA (the RNU2 locus) involves rapid intrachromosomal homogenization and rare interchromosomal gene conversion. The EMBO Journal 1997, 16: 588-598. PMID: 9034341, PMCID: PMC1169662, DOI: 10.1093/emboj/16.3.588.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBase SequenceChromosomesCloning, MolecularDNA, SatelliteElectrophoresis, Agar GelEvolution, MolecularGenetic MarkersHaplotypesHumansLinkage DisequilibriumMolecular Sequence DataPedigreePolymorphism, GeneticPolymorphism, Restriction Fragment LengthPrimatesRecombination, GeneticRepetitive Sequences, Nucleic AcidRNA, Small NuclearSequence AnalysisConceptsU2 tandem arrayTandem arraysConcerted evolutionIntrachromosomal homogenizationU2 snRNAInterchromosomal gene conversionHuman U2 snRNARepeat unitsGenetic exchangeU2 genesGene conversionChromosome lineagesIndependent assortmentFlanking markersDiverse panelGenesMicrosatellite polymorphismSnRNACT alleleSacISacI polymorphismPolymorphismAllelesChromatid exchangesPrimary driving force
1996
PhenoDB: An Integrated Client/Server Database for Linkage and Population Genetics
Cheung K, Nadkarni P, Silverstein S, Kidd J, Pakstis A, Miller P, Kidd K. PhenoDB: An Integrated Client/Server Database for Linkage and Population Genetics. Journal Of Biomedical Informatics 1996, 29: 327-337. PMID: 8812078, DOI: 10.1006/cbmr.1996.0024.Peer-Reviewed Original ResearchMeSH KeywordsAllelesComputer Communication NetworksComputer GraphicsComputer SystemsData Interpretation, StatisticalDatabase Management SystemsGene FrequencyGenetic LinkageGenetic MarkersGenetics, PopulationHumansInformation Storage and RetrievalInformation SystemsPedigreePhenotypeUser-Computer InterfaceConceptsClient/server databaseClient/server architectureData management tasksData analysis tasksUse graphical interfaceServer architectureDatabase applicationsComplex adServer databaseInteractive validationAnalysis tasksGraphical interfaceFile formatManagement tasksLarge datasetsPhenoDBMultipoint linkageGeneric formatHardy-Weinberg ratiosData entryEfficient managementProject managementGenetic marker dataPopulation geneticsTask
1995
The Dopamine Transporter Protein Gene (SLC6A3): Primary Linkage Mapping and Linkage Studies in Tourette Syndrome
Gelernter J, Vandenbergh D, Kruger S, Pauls D, Kurlan R, Pakstis A, Kidd K, Uhl G. The Dopamine Transporter Protein Gene (SLC6A3): Primary Linkage Mapping and Linkage Studies in Tourette Syndrome. Genomics 1995, 30: 459-463. PMID: 8825631, DOI: 10.1006/geno.1995.1265.Peer-Reviewed Original ResearchConceptsTourette syndromeDopamine transporterAttention deficit disorderDopaminergic neuronsPresynaptic reuptakeSpecific localizationPsychiatric illnessPsychostimulant drugsChromosome 5pCocaine-induced paranoiaSyndromeDeficit disorderSLC6A3ScoresMajor siteLinkage studiesNegative lod scoresMarkersTransporter protein geneAn international two–stage genome–wide search for schizophrenia susceptibility genes
Moises H, Yang L, Kristbjarnarson H, Wiese C, Byerley W, Macciardi F, Arolt V, Blackwood D, Liu X, Sjögren B, Aschauer H, Hwu H, Jang K, Livesley W, Kennedy J, Zoega T, Ivarsson O, Bui M, Yu M, Havsteen B, Commenges D, Weissenbach J, Schwinger E, Gottesman I, Pakstis A, Wetterberg L, Kidd K, Helgason T. An international two–stage genome–wide search for schizophrenia susceptibility genes. Nature Genetics 1995, 11: 321-324. PMID: 7581457, DOI: 10.1038/ng1195-321.Peer-Reviewed Original ResearchConceptsGenome-wide searchChromosome 6pIDDM susceptibility genesModel-free linkage analysisSchizophrenia susceptibility genesFine mappingOligogenic transmissionAssociation studiesLinkage analysisGeographical isolatesLinkage findingsSusceptibility genesGenesLocus heterogeneityLarge pedigreeComplex disorderSecond International Collaborative StudyComplex modesHLA regionMultifactorial diseaseLinkage 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 patternsMutationsPhenotypeEvidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
Takiyama Y, Igasrashi S, Rogaeva E, Endo K, Rogaev E, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M, Tsuda T, Takano H, Ikeda M, Lin C, Chi H, Kennedy J, Lang A, Wherrett J, Segawa M, Nomura Y, Yuasa T, Weissenbach J, Yoshida M, Nishizawa M, Kidd K, Tsuji S, St George-Hyslop P. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Human Molecular Genetics 1995, 4: 1137-1146. PMID: 8528200, DOI: 10.1093/hmg/4.7.1137.Peer-Reviewed Original ResearchAge of OnsetAllelesAsian PeopleAtaxin-3Base SequenceConserved SequenceFemaleGenetics, PopulationHaplotypesHomozygoteHumansJapanMachado-Joseph DiseaseMaleMeiosisMolecular Sequence DataNerve Tissue ProteinsNuclear ProteinsPedigreePhenotypePolymorphism, GeneticProteinsRepetitive Sequences, Nucleic AcidRepressor ProteinsWhite People
1993
Alleles at the dopamine D4 receptor locus do not contribute to the genetic susceptibility to schizophrenia in a large Swedish kindred
Barr C, Kennedy J, Lichter J, Van Tol H, Wetterberg L, Livak K, Kidd K. Alleles at the dopamine D4 receptor locus do not contribute to the genetic susceptibility to schizophrenia in a large Swedish kindred. American Journal Of Medical Genetics 1993, 48: 218-222. PMID: 8135305, DOI: 10.1002/ajmg.1320480409.Peer-Reviewed Original ResearchConceptsChromosome 11p15.5Receptor geneImperfect direct repeatsDopamine D4 receptor locusD4 receptor geneTyrosine hydroxylase locusDopamine D4 receptor geneSingle haplotypeFirst intronSequence variationCandidate genesG nucleotidesDirect repeatsReceptor locusGenetic markersThird exonLinkage analysisPolymorphic markersGenetic susceptibilityGenesLociClose linkageDRD4 locusAllelesRepeatsGenetic and Physical Mapping of the Treacher Collins Syndrome Locus with Respect to Loci in the Chromosome 5q3 Region
Jabs E, Li X, Lovett M, Yamaoka L, Taylor E, Speer M, Coss C, Cadle R, Hall B, Brown K, Kidd K, Dolganov G, Polymeropoulos M, Meyers D. Genetic and Physical Mapping of the Treacher Collins Syndrome Locus with Respect to Loci in the Chromosome 5q3 Region. Genomics 1993, 18: 7-13. PMID: 8276417, DOI: 10.1006/geno.1993.1420.Peer-Reviewed Original ResearchConceptsTCOF1 locusTreacher Collins syndrome locusLinkage analysisHighest maximum lod scorePhysical mapping dataOrder of lociCraniofacial developmental disorderMultipoint linkage analysisGenetic distancePhysical mappingYAC clonesCEPH familiesMaximum lod scoreSyndrome locusLociLOD scoreMapping dataHaplotype analysisTreacher Collins syndromeSyndrome familiesFamilyTCOF1Developmental disordersGenesClonesA new polymorphic marker (D10S97) tightly linked to the multiple endocrine neoplasia type 2A (MEN2A) locus
Lichter J, Wu J, Brooks-Wilson A, Difillipantonio M, Brewster S, Ward D, Goodfellow P, Kidd K. A new polymorphic marker (D10S97) tightly linked to the multiple endocrine neoplasia type 2A (MEN2A) locus. Human Genetics 1993, 90: 516-520. PMID: 8094065, DOI: 10.1007/bf00217451.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBase SequenceChromosome MappingChromosomes, FungalChromosomes, Human, Pair 10Cloning, MolecularCricetinaeDeoxyribonuclease EcoRIDNADNA ProbesFemaleGene FrequencyGene LibraryGenetic LinkageGenetic MarkersGenome, HumanHumansHybrid CellsIn Situ Hybridization, FluorescenceLod ScoreMaleMolecular Sequence DataMultiple Endocrine NeoplasiaPedigreePolymorphism, GeneticPolymorphism, Restriction Fragment LengthSequence Analysis, DNA
1992
A high-resolution meiotic mapping panel for the pericentromeric region of chromosome 10
Lichter J, Wu J, Miller D, Goodfellow P, Kidd K. A high-resolution meiotic mapping panel for the pericentromeric region of chromosome 10. Genomics 1992, 13: 607-612. PMID: 1353475, DOI: 10.1016/0888-7543(92)90131-b.Peer-Reviewed Original Research