2016
Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders
Truong DT, Shriberg LD, Smith SD, Chapman KL, Scheer-Cohen AR, DeMille MM, Adams AK, Nato AQ, Wijsman EM, Eicher JD, Gruen JR. Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders. Human Genetics 2016, 135: 1329-1341. PMID: 27535846, PMCID: PMC5065602, DOI: 10.1007/s00439-016-1717-z.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 13Drosophila ProteinsDyslexiaFemaleGenetic LinkageGenetic Predisposition to DiseaseGenotypeHumansLanguage DisordersLod ScoreMaleMembrane ProteinsMiddle AgedNuclear ProteinsPedigreeQuantitative Trait LociReadingSpeech DisordersWritingConceptsNonword repetitionSpecific language impairmentCognitive processesLanguage impairmentAuditory processingVerbal developmentMotor planningPerson's abilityRobust endophenotypesMultigenerational familiesLanguage traitsRepetitionDisordersGenome-wide linkage scanSpellingVariance component linkage analysisCausal genetic factorsMultipoint variance component linkage analysisMemoryEndophenotypesSpeechChromosome 13qFuture studiesPresent studyDeficits
2001
Peaks of Linkage Are Localized by a BAC/PAC Contig of the 6p Reading Disability Locus
Ahn J, Won T, Zia A, Reutter H, Kaplan D, Sparks R, Gruen J. Peaks of Linkage Are Localized by a BAC/PAC Contig of the 6p Reading Disability Locus. Genomics 2001, 78: 19-29. PMID: 11707069, DOI: 10.1006/geno.2001.6645.Peer-Reviewed Original ResearchConceptsBacterial artificial chromosomeBAC/PAC contigHigh-resolution genetic studiesEntire chromosome 6Intermarker distanceArtificial chromosome contigPhysical mapping dataPeak of linkageSuccinic semialdehyde dehydrogenaseUncharacterized genesGenetic boundariesSequence tagsShort tandem repeatsArtificial chromosomesMarker orderClone contigNew contigPhysical mapGenetic lociLinkage peakCandidate genesPAC contigSemialdehyde dehydrogenaseContigsChromosome 6Human GABAB receptor 1 gene: Eight novel sequence variants
Hisama F, Gruen J, Choi J, Huseinovic M, Grigorenko E, Pauls D, Mattson R, Gelernter J, Wood F, Goei V. Human GABAB receptor 1 gene: Eight novel sequence variants. Human Mutation 2001, 17: 349-350. PMID: 11295833, DOI: 10.1002/humu.34.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingChromosomes, Human, Pair 6DNA Mutational AnalysisDNA PrimersExonsGene FrequencyGenetic Predisposition to DiseaseGenetic VariationHumansIntronsMental DisordersMutationMutation, MissensePolymorphism, GeneticPolymorphism, Restriction Fragment LengthPolymorphism, Single-Stranded ConformationalReceptors, GABA-BUnited StatesConceptsNeurobehavioral disordersPrincipal inhibitory neurotransmitterHuman leukocyte antigen (HLA) regionInhibitory neurotransmitterPharmacogenetic studiesGene mutationsAntigen regionIntron variantsMissense mutationsDistinct mutationsDisordersLinkage studiesReceptor mapsAmerican populationGABBR1MutationsSusceptibility regionsEpilepsyCandidate genesDNA variantsGABANeurotransmittersSchizophreniaBrain
1998
Human gamma-aminobutyric acid B receptor gene: complementary DNA cloning, expression, chromosomal location, and genomic organization
Goei V, Choi J, Ahn J, Bowlus C, Raha-Chowdhury R, Gruen J. Human gamma-aminobutyric acid B receptor gene: complementary DNA cloning, expression, chromosomal location, and genomic organization. Biological Psychiatry 1998, 44: 659-666. PMID: 9798068, DOI: 10.1016/s0006-3223(98)00244-3.Peer-Reviewed Original ResearchConceptsGenomic organizationGenetic lociGenomic DNA clonesPotential positional candidate genesPositional candidate genesComplementary DNA cloningFull-length cDNAOpen reading frameHuman chromosome 6Northern blot hybridizationGenomic locationTelomeric sitesChromosomal locationHybridization selectionDNA clonesHuman genesReading frameDNA cloningGenomic DNACentromeric genesChromosome 6Sequence analysisGenesAmino acidsGABAB receptor gene