2024
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings
Cissé L, Bamba S, Diallo S, Ji W, Dembélé M, Yalcouyé A, Coulibaly T, Traoré I, Jeffries L, Diarra S, Maiga A, Diallo S, Nimaga K, Touré A, Traoré O, Kotioumbé M, Mis E, Cissé C, Guinto C, Fischbeck K, Khokha M, Lakhani S, Landouré G. Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings. Frontiers In Neurology 2024, 15: 1455467. PMID: 39385815, PMCID: PMC11461190, DOI: 10.3389/fneur.2024.1455467.Peer-Reviewed Original ResearchWhole-exome sequencingACMG criteriaProgressive myoclonic epilepsyProtein 3D structuresHomozygous missense variantRecessive inheritance patternCADD scoresAutosomal recessive inheritance patternSequence variantsMissense variantsGenomic researchExome sequencingGenetic analysisGenetic studiesPathogenic variantsPedigree analysisGenetic epidemiologyGenetic researchGenetic profileHeterogeneous neurological disordersInheritance patternSporadic formsACMGGroup of neurological disordersMyoclonic epilepsySemi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies
Shyr D, Dey R, Li X, Zhou H, Boerwinkle E, Buyske S, Daly M, Gibbs R, Hall I, Matise T, Reeves C, Stitziel N, Zody M, Neale B, Lin X. Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies. American Journal Of Human Genetics 2024, 111: 2129-2138. PMID: 39270648, PMCID: PMC11480788, DOI: 10.1016/j.ajhg.2024.08.018.Peer-Reviewed Original ResearchHardy-Weinberg equilibriumWhole-genome sequencing studiesWhole-genome sequencingHomogeneous ancestryWGS studiesDownstream analysisAssociation analysisPresence of population structureAncestry groupsGenetic ancestry groupsPopulation structureSequencing studiesSelf-reported raceGenetic researchQuality variantsAncestrySubsets of samplesProgram centersVariantsIncreasing diversityHeterogeneous sampleAncestralAssociationGeneticsSequenceReview: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic
Fitzpatrick S, Antony I, Nurmi E, Fernandez T, Chung W, Brownstein C, Gonzalez-Heydrich J, Gur R, Merner A, Lázaro-Muñoz G, State M, Simon K, Hoffman E. Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic. JAACAP Open 2024, 3: 157-170. PMID: 40520982, PMCID: PMC12166933, DOI: 10.1016/j.jaacop.2024.06.002.Peer-Reviewed Original ResearchGenetic testingHigh-confidence risk genesPsychiatric geneticsApproaches to gene discoveryGenetic researchTranslational genetic researchClinical genetic testingEra of genomicsWhole-exome sequencingChild psychiatric disordersGenetic architectureGene discoveryClinical evaluationPharmacogenetic testingExome sequencingRisk genesGenetic underpinningsGenetic findingsEarly-onset psychosisPsychiatric disordersGenetic conceptsGeneticsLack of familiarityClinical practiceObsessive-compulsive disorderGenetics of IgA nephrology: risks, mechanisms, and therapeutic targets
Qu S, Zhou X, Zhang H. Genetics of IgA nephrology: risks, mechanisms, and therapeutic targets. Pediatric Nephrology 2024, 39: 3157-3165. PMID: 38600219, DOI: 10.1007/s00467-024-06369-7.Peer-Reviewed Original ResearchGenome-wide association studiesPopulation-based genome-wide association studiesComplex multifactorial traitsPolygenic risk scoresRisk lociAssociation studiesTherapeutic targetMultifactorial traitGenetic explorationGenetic researchGenetic causationMolecular mechanismsRisk scoreElevated serum Gd-IgA1 levelsIncreased riskPathogenesis modelGroup of individualsSerum Gd-IgA1 levelsGd-IgA1 levelsMedical treatmentLociGalactose-deficient IgA1RiskGeneticsGd-IgA1Dissecting the biology of feeding and eating disorders
Huckins L, Brennand K, Bulik C. Dissecting the biology of feeding and eating disorders. Trends In Molecular Medicine 2024, 30: 380-391. PMID: 38431502, DOI: 10.1016/j.molmed.2024.01.009.Peer-Reviewed Original ResearchGenome-wide association studiesVariants to genesGenes to pathwaysSignificant lociFunctional genomicsAssociation studiesGenetic relationshipsIntestinal microbiotaGenetic researchGenomeGenetic correlationsGenesMetabolic contributorsAnorexia nervosaEating DisordersPathwayBiologyMetabolic outcomesRisk factorsLociMicrobiotaPhenomicsLethal illnessTraitsFeeding
2023
Systematic review and meta-analysis of the genetics of peripheral arterial disease
Ochoa Chaar C, Kim T, Alameddine D, DeWan A, Guzman R, Dardik A, Grossetta Nardini H, Wallach J, Kullo I, Murray M. Systematic review and meta-analysis of the genetics of peripheral arterial disease. JVS Vascular Science 2023, 5: 100133. PMID: 38314202, PMCID: PMC10832467, DOI: 10.1016/j.jvssci.2023.100133.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsGenome-wide association studiesDNA variantsWide association studyRecent genome-wide association studiesSmall candidate gene studiesCandidate gene studiesGWAS studiesCandidate genesAssociation studiesGene studiesGenetic researchGeneticsOnly variantVariantsHepatic lipaseGenesProgressionSignificant variation88. GENETIC ARCHITECTURE OF SCHIZOPHRENIA IN AFRICAN ANCESTRY INDIVIDUALS
Bigdeli T, Gorman B, Voloudakis G, Chatzinakos C, Barr P, Burstein D, Genovese G, Pyarajan S, Huang G, Pato C, Pato M, Fanous A, Aslan M, Harvey P, Roussos P. 88. GENETIC ARCHITECTURE OF SCHIZOPHRENIA IN AFRICAN ANCESTRY INDIVIDUALS. European Neuropsychopharmacology 2023, 75: s103. DOI: 10.1016/j.euroneuro.2023.08.191.Peer-Reviewed Original ResearchAfrican ancestry individualsAllelic effectsMillion Veteran ProgramFine-mapping resolutionGenome-wide significanceNew biological insightsDuplication eventsGenetic architectureGenomic methodologiesAncestry tractsIndex SNPsSingle locusPhenotypic dataGenetic analysisBiological insightsMHC lociAfrican diaspora populationsAfrican ancestryLociChromosome 6p21Genetic effectsGenetic researchEast Asian populationsLarge-scale research initiativesHuman population
2022
The construction of cross-population polygenic risk scores using transfer learning
Zhao Z, Fritsche L, Smith J, Mukherjee B, Lee S. The construction of cross-population polygenic risk scores using transfer learning. American Journal Of Human Genetics 2022, 109: 1998-2008. PMID: 36240765, PMCID: PMC9674947, DOI: 10.1016/j.ajhg.2022.09.010.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPolygenic risk scoresAncestry groupsTransferability of PRSPRS-CSPolygenic risk score methodsEuropean ancestry cohortsIndividuals of African ancestryIndividuals of South Asian ancestryNon-European ancestry groupsNon-European ancestrySouth Asian ancestryAssociation studiesDichotomous traitsSouth Asian sampleEuropean ancestryGenetic researchPRS modelAncestryAsian ancestryAfrican ancestryAfrican samplesUK BiobankRisk scoreAsian samplesTrauma Matters: Integrating Genetic and Environmental Components of PTSD
Marchese S, Huckins L. Trauma Matters: Integrating Genetic and Environmental Components of PTSD. Advanced Genetics 2022, 4: 2200017. PMID: 37766803, PMCID: PMC10520418, DOI: 10.1002/ggn2.202200017.Peer-Reviewed Original Research
2019
International Society of Psychiatric Genetics Ethics Committee: Issues facing us
Lázaro‐Muñoz G, Sabatello M, Huckins L, Peay H, Degenhardt F, Meiser B, Lencz T, Soda T, Docherty A, Crepaz‐Keay D, Austin J, Peterson R, Davis L, Committee O. International Society of Psychiatric Genetics Ethics Committee: Issues facing us. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2019, 180: 543-554. PMID: 31124312, PMCID: PMC6861601, DOI: 10.1002/ajmg.b.32736.Peer-Reviewed Original ResearchConceptsInternational Society of Psychiatric GeneticsPsychiatric geneticsPsychiatric genetic researchGenetic researchELSI challengesGenetic counselorsClinical geneticistsEthics CommitteeGeneticsELSI issuesMental health professionalsLegal proceedingsClinical settingPatientsInternational organizationsEthical translationMental illnessInternational reachInternational SocietyBiological underpinningsGeneticistsELSIIncreased awarenessPsychiatric researchHealth professionalsToward incorporating genetic risk scores into symptom networks of psychosis
Isvoranu A, Guloksuz S, Epskamp S, van Os J, Borsboom D, Investigators. Toward incorporating genetic risk scores into symptom networks of psychosis. Psychological Medicine 2019, 50: 636-643. PMID: 30867074, PMCID: PMC7093319, DOI: 10.1017/s003329171900045x.Peer-Reviewed Original ResearchEvaluating and sharing global genetic ancestry in biomedical datasets
Harismendy O, Kim J, Xu X, Ohno-Machado L. Evaluating and sharing global genetic ancestry in biomedical datasets. Journal Of The American Medical Informatics Association 2019, 26: 457-461. PMID: 30869786, PMCID: PMC6433181, DOI: 10.1093/jamia/ocy194.Peer-Reviewed Original ResearchConceptsGenetic diversity measurementsGenetic ancestryAvailable molecular datasetsHuman genetics researchCancer Genome Atlas (TCGA) datasetContinental resolutionGenetic diversityPhenotype-genotype associationsMolecular datasetsGlobal genetic ancestryAncestry informationGenetic researchAtlas datasetDiversity measurementsAncestryTraitsGlobal scaleDiversityBiomedical datasetsAvailable datasetsData repositoryDisease riskAccess datasetDatasetAvailable cohorts
2018
Genetics of alcohol use disorder: a review
Deak J, Miller A, Gizer I. Genetics of alcohol use disorder: a review. Current Opinion In Psychology 2018, 27: 56-61. PMID: 30170251, PMCID: PMC6368900, DOI: 10.1016/j.copsyc.2018.07.012.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSuccess of GWASAssociation studiesGenome-wide linkageQuantitative genetic studiesCandidate gene association studiesHundreds of variantsMolecular genetic researchGene association studiesGene discoveryGenetic variationRelevant traitsGWAS dataGenetic studiesGenetic researchEtiology of AUDGenomeTraitsGenetic etiologyHeritabilitySpecific variationsPresent reviewGeneticsRecent effortsSmall effect
2017
Past, present, and future of genetic research in borderline personality disorder
Nia A, Eveleth M, Gabbay J, Hassan Y, Zhang B, Perez-Rodriguez M. Past, present, and future of genetic research in borderline personality disorder. Current Opinion In Psychology 2017, 21: 60-68. PMID: 29032046, PMCID: PMC5847441, DOI: 10.1016/j.copsyc.2017.09.002.Peer-Reviewed Original ResearchConceptsBorderline personality disorderPersonality disorderDimensions of BPDPathophysiology of borderline personality disorderGenome-wide association studiesSelf-damaging behaviorsTreatment targetPrevalence of approximately 1BPD traitsSense of selfImpulse regulationPattern of instabilityPsychiatric disordersReview genetic studiesDisease-modifying pharmacological treatmentsLack of translational researchModerate to high heritabilityMental illnessImaging GeneticsLifetime prevalenceSample of patientsGenetic researchSevere functional impairmentPharmacological treatmentAnimal modelsLeveraging functional annotations in genetic risk prediction for human complex diseases
Hu Y, Lu Q, Powles R, Yao X, Yang C, Fang F, Xu X, Zhao H. Leveraging functional annotations in genetic risk prediction for human complex diseases. PLOS Computational Biology 2017, 13: e1005589. PMID: 28594818, PMCID: PMC5481142, DOI: 10.1371/journal.pcbi.1005589.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingData Interpretation, StatisticalData MiningDatabases, GeneticEpigenomicsGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationGenome, HumanHumansLinkage DisequilibriumPolymorphism, Single NucleotideProportional Hazards ModelsQuantitative Trait LociRisk AssessmentConceptsGenome-wide association studiesFunctional annotationGenetic risk predictionDisease-associated genetic variantsLinkage disequilibriumIdentification of thousandsWide association studyHuman complex diseasesComplex diseasesGWAS summary statisticsHuman genetics researchAssociation studiesAnnoPredGenotype dataGenetic researchGenetic variantsRelevant variantsAnnotationDisequilibriumMost diseasesDiverse typesSummary statisticsVariantsBayesian frameworkPrecision medicine
2012
Integrating Imaging and Genetic Research
Perlis R, Blumberg H. Integrating Imaging and Genetic Research. 2012, 239-252. DOI: 10.1093/med/9780199797608.003.0101.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsBipolar disorderCorticolimbic systemAbstract Neuroimaging studiesHomogeneous patient populationAnterior cingulate cortexPatient populationBrain changesClinical practiceCingulate cortexPersonalized treatmentVentral prefrontalNeuroimaging studiesGenetic association studiesConvergence of findingsMolecular mechanismsAssociation studiesGenetic studiesCommon variationDisordersGenetic researchFuture investigationsImaging
1994
Genetic Mechanisms in Childhood Psychiatric Disorders
LOMBROSO P, PAULS D, LECKMAN J. Genetic Mechanisms in Childhood Psychiatric Disorders. Journal Of The American Academy Of Child & Adolescent Psychiatry 1994, 33: 921-938. PMID: 7525534, DOI: 10.1097/00004583-199409000-00001.Peer-Reviewed Original ResearchMeSH KeywordsAdoptionAttention Deficit Disorder with HyperactivityAutistic DisorderChildChild, PreschoolChromosome AberrationsChromosome DisordersDevelopmental DisabilitiesDiseases in TwinsEnvironmentFamilyGenetic LinkageHumansInfantInfant, NewbornKaryotypingMood DisordersRNA, MessengerTourette SyndromeConceptsMolecular basisGenetic researchChildhood psychiatric disordersGenetic mechanismsPsychiatric disordersGenetic factorsMolecular understandingComplex behavioral disordersChildhood disordersGenetic etiologyCertain childhood disordersCertain developmental disordersDevelopmental disordersPsychiatric illness
1987
Overview of human cells in genetic research: Altered phenotypes in human cells caused by transferred genes
Brash D, Mark G, Farrell M, Harris C. Overview of human cells in genetic research: Altered phenotypes in human cells caused by transferred genes. Somatic Cell And Molecular Genetics 1987, 13: 429-440. PMID: 3331832, DOI: 10.1007/bf01534944.Chapters
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