2019
Inviting in the Exome for Alcohol and Smoking Traits
Gelernter J. Inviting in the Exome for Alcohol and Smoking Traits. Biological Psychiatry 2019, 85: 889-890. PMID: 31122339, PMCID: PMC7401834, DOI: 10.1016/j.biopsych.2019.04.005.Peer-Reviewed Original Research
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
Variant Callers for Next-Generation Sequencing Data: A Comparison Study
Liu X, Han S, Wang Z, Gelernter J, Yang BZ. Variant Callers for Next-Generation Sequencing Data: A Comparison Study. PLOS ONE 2013, 8: e75619. PMID: 24086590, PMCID: PMC3785481, DOI: 10.1371/journal.pone.0075619.Peer-Reviewed Original Research