2014
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss
Haraksingh RR, Jahanbani F, Rodriguez-Paris J, Gelernter J, Nadeau KC, Oghalai JS, Schrijver I, Snyder MP. Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. BMC Genomics 2014, 15: 1155. PMID: 25528277, PMCID: PMC4367882, DOI: 10.1186/1471-2164-15-1155.Peer-Reviewed Original ResearchConceptsHearing lossHereditary hearing lossExome sequencingSensorineural hearing lossType II myosinGenome-wide CNV analysisCase-control cohortNon-syndromic sensorineural hearing lossStrong candidate geneLoss patientsDirect clinical applicationGenetic diversityNovel lociClinical settingCytoskeletal proteinsCandidate genesCandidate lociVariants mappingDistinct familiesChromosome 16Loss phenotypeClinical applicationNovel regionLociCNV analysis
2013
ALDH2 is associated to alcohol dependence and is the major genetic determinant of “daily maximum drinks” in a GWAS study of an isolated rural chinese sample
Quillen EE, Chen X, Almasy L, Yang F, He H, Li X, Wang X, Liu T, Hao W, Deng H, Kranzler HR, Gelernter J. ALDH2 is associated to alcohol dependence and is the major genetic determinant of “daily maximum drinks” in a GWAS study of an isolated rural chinese sample. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2013, 165: 103-110. PMID: 24277619, PMCID: PMC4149216, DOI: 10.1002/ajmg.b.32213.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsCandidate single nucleotide polymorphismsGenome-wide association analysisCandidate gene studiesPhenotypic variationMajor genetic determinantGWAS studiesHeritable phenotypesAldehyde dehydrogenase deficiencyGene studiesAssociation analysisRisk genesLinkage disequilibriumGenetic determinantsExtended pedigreesNucleotide polymorphismsNorthern Hunan ProvinceAD-related phenotypesPhenotypeALDH2Consumption rateCCDC63
2008
Dense Genomewide Linkage Scan for Alcohol Dependence in African Americans: Significant Linkage on Chromosome 10
Gelernter J, Kranzler HR, Panhuysen C, Weiss RD, Brady K, Poling J, Farrer L. Dense Genomewide Linkage Scan for Alcohol Dependence in African Americans: Significant Linkage on Chromosome 10. Biological Psychiatry 2008, 65: 111-115. PMID: 18930185, PMCID: PMC2646253, DOI: 10.1016/j.biopsych.2008.08.036.Peer-Reviewed Original Research
2006
Genomewide Linkage Scan for Nicotine Dependence: Identification of a Chromosome 5 Risk Locus
Gelernter J, Panhuysen C, Weiss R, Brady K, Poling J, Krauthammer M, Farrer L, Kranzler HR. Genomewide Linkage Scan for Nicotine Dependence: Identification of a Chromosome 5 Risk Locus. Biological Psychiatry 2006, 61: 119-126. PMID: 17081504, DOI: 10.1016/j.biopsych.2006.08.023.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingChromosomes, Human, Pair 5FemaleGene FrequencyGenetic LinkageGenetic Predisposition to DiseaseHumansLod ScoreMaleMixed Function OxygenasesMultienzyme ComplexesNuclear FamilyPedigreePhenotypePolymorphism, Single NucleotideReproducibility of ResultsRetrospective StudiesTobacco Use DisorderConceptsRisk lociLinkage scanGenomewide linkage scanSignificant single-nucleotide polymorphism associationsGenetic linkage analysisSingle nucleotide polymorphism associationsHighest LOD scoreLinkage peakChromosome 5Linkage signalChromosome 7Small nuclear familiesLinkage analysisPeptidylglycine alphaLociLOD scoreDistinct populationsMultiple individualsGenesEA subjectsPhysiological hypothesisPolymorphism associationAA partEuropean AmericansGenomewide Linkage Scan for Opioid Dependence and Related Traits
Gelernter J, Panhuysen C, Wilcox M, Hesselbrock V, Rounsaville B, Poling J, Weiss R, Sonne S, Zhao H, Farrer L, Kranzler HR. Genomewide Linkage Scan for Opioid Dependence and Related Traits. American Journal Of Human Genetics 2006, 78: 759-769. PMID: 16642432, PMCID: PMC1474044, DOI: 10.1086/503631.Peer-Reviewed Original Research
2004
Altered NMDA Glutamate Receptor Antagonist Response in Individuals With a Family Vulnerability to Alcoholism
Petrakis IL, Limoncelli D, Gueorguieva R, Jatlow P, Boutros NN, Trevisan L, Gelernter J, Krystal JH. Altered NMDA Glutamate Receptor Antagonist Response in Individuals With a Family Vulnerability to Alcoholism. American Journal Of Psychiatry 2004, 161: 1776-1782. PMID: 15465973, DOI: 10.1176/ajp.161.10.1776.Peer-Reviewed Original ResearchAdultAffectAlcohol DrinkingAlcoholic IntoxicationAlcoholismBrief Psychiatric Rating ScaleDissociative DisordersDouble-Blind MethodEthanolFamilyFemaleGenetic Predisposition to DiseaseHumansInfusions, IntravenousKetamineMalePedigreePlacebosPsychoses, AlcoholicReceptors, N-Methyl-D-AspartateRisk FactorsGenome-Wide Linkage Scan for Loci Predisposing to Social Phobia: Evidence for a Chromosome 16 Risk Locus
Gelernter J, Page GP, Stein MB, Woods SW. Genome-Wide Linkage Scan for Loci Predisposing to Social Phobia: Evidence for a Chromosome 16 Risk Locus. American Journal Of Psychiatry 2004, 161: 59-66. PMID: 14702251, DOI: 10.1176/appi.ajp.161.1.59.Peer-Reviewed Original ResearchConceptsGenome-wide linkage scanLinkage scanChromosome 16LOD scoreGenetic linkage analysisNorepinephrine transporter proteinLinkage genome scanGenomic locationEntire genomeChromosome 16 markersGenome scanMultipoint LOD scoreRisk lociTransporter proteinsGenetic markersLinkage analysisSusceptibility lociChromosome 9Physiological candidatesLocus predisposingLociZlr scoreAmerican pedigreesX softwareD16S415
2001
Linkage genome scan for loci predisposing to panic disorder or agoraphobia
Gelernter J, Bonvicini K, Page G, Woods S, Goddard A, Kruger S, Pauls D, Goodson S. Linkage genome scan for loci predisposing to panic disorder or agoraphobia. American Journal Of Medical Genetics 2001, 105: 548-557. PMID: 11496373, DOI: 10.1002/ajmg.1496.Peer-Reviewed Original ResearchMeSH KeywordsAgoraphobiaChromosome MappingChromosomes, Human, Pair 1Chromosomes, Human, Pair 11Chromosomes, Human, Pair 14Chromosomes, Human, Pair 3Chromosomes, Human, Pair 4Family HealthFemaleGenetic Predisposition to DiseaseGenome, HumanHumansLod ScoreMaleMicrosatellite RepeatsPanic DisorderPedigreeConceptsLinkage genome scanGenome scanChromosome 3LOD scoreSuggestive linkagePrevious genome scanComplex traitsGenomic regionsHeritable anxiety disordersGenetic lociMultipoint LOD scoreCandidate genesRisk lociChromosome 1Chromosome 11pSusceptibility lociLociStatistical supportLinkage resultsNPL analysisPotential lociNPL scoreAmerican pedigreesSingle familyPotential linkage
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 gene
1993
Eliminating mitochondrial DNA competition for nuclear DNA primers.
Zullo S, Kennedy JL, Gelernter J, Polymeropoulos MH, Tallini G, Pakstis AJ, Shapiro MB, Merril CR, Kidd KK. Eliminating mitochondrial DNA competition for nuclear DNA primers. Genome Research 1993, 3: 39-45. PMID: 7693114, DOI: 10.1101/gr.3.1.39.Peer-Reviewed Original Research
1991
No Linkage Between D2 Dopamine Receptor Gene Region and Schizophrenia
Moises H, Gelernter J, Giuffra L, Zarcone V, Wetterberg L, Civelli O, Kidd K, Cavalli-Sforza L, Grandy D, Kennedy J, Vinogradov S, Mauer J, Litt M, Sjögren B. No Linkage Between D2 Dopamine Receptor Gene Region and Schizophrenia. JAMA Psychiatry 1991, 48: 643-647. PMID: 2069495, DOI: 10.1001/archpsyc.1991.01810310061011.Peer-Reviewed Original Research
1990
Manic depressive illness not linked to factor IX region in an independent series of pedigrees
Gejman P, Detera-Wadleigh S, Martinez M, Berrettini W, Goldin L, Gelernter J, Hsieh W, Gershon E. Manic depressive illness not linked to factor IX region in an independent series of pedigrees. Genomics 1990, 8: 648-655. PMID: 1980485, DOI: 10.1016/0888-7543(90)90251-o.Peer-Reviewed Original ResearchGilles de la Tourette Syndrome Is Not Linked to D2-Dopamine Receptor
Gelernter J, Pakstis AJ, Pauls DL, Kurlan R, Gancher ST, Civelli O, Grandy D, Kidd KK. Gilles de la Tourette Syndrome Is Not Linked to D2-Dopamine Receptor. JAMA Psychiatry 1990, 47: 1073-1077. PMID: 1978653, DOI: 10.1001/archpsyc.1990.01810230089014.Peer-Reviewed Original ResearchX-Chromosome Markers and Manic-Depressive Illness: Rejection of Linkage to Xq28 in Nine Bipolar Pedigrees
Berrettini WH, Goldin LR, Gelernter J, Gejman PV, Gershon ES, Detera-Wadleigh S. X-Chromosome Markers and Manic-Depressive Illness: Rejection of Linkage to Xq28 in Nine Bipolar Pedigrees. JAMA Psychiatry 1990, 47: 366-373. PMID: 2322087, DOI: 10.1001/archpsyc.1990.01810160066010.Peer-Reviewed Original Research