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
2012
Association of COL25A1 with Comorbid Antisocial Personality Disorder and Substance Dependence
Li D, Zhao H, Kranzler HR, Oslin D, Anton RF, Farrer LA, Gelernter J. Association of COL25A1 with Comorbid Antisocial Personality Disorder and Substance Dependence. Biological Psychiatry 2012, 71: 733-740. PMID: 22297151, PMCID: PMC3548659, DOI: 10.1016/j.biopsych.2011.12.011.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsTwo-stage genetic association studyType II transmembrane proteinCase-control cohortAllelic p-valueAlpha 1 geneSame single nucleotide polymorphismIndependent case-control cohortsTransmembrane proteinTranscription factorsSNP mapGenetic association studiesEuropean American casesCandidate genesCOL25A1 geneAssociation studiesGenetic studiesFamily-based cohortChromosome 4q25GenesNucleotide polymorphismsCOL25A1Alzheimer's disease brainLong-term patternsDiscovery stage