2025
Psychiatric genetics in the diverse landscape of Latin American populations
Bruxel E, Rovaris D, Belangero S, Chavarría-Soley G, Cuellar-Barboza A, Martínez-Magaña J, Nagamatsu S, Nievergelt C, Núñez-Ríos D, Ota V, Peterson R, Sloofman L, Adams A, Albino E, Alvarado A, Andrade-Brito D, Arguello-Pascualli P, Bandeira C, Bau C, Bulik C, Buxbaum J, Cappi C, Corral-Frias N, Corrales A, Corsi-Zuelli F, Crowley J, Cupertino R, da Silva B, De Almeida S, De la Hoz J, Forero D, Fries G, Gelernter J, González-Giraldo Y, Grevet E, Grice D, Hernández-Garayua A, Hettema J, Ibáñez A, Ionita-Laza I, Lattig M, Lima Y, Lin Y, López-León S, Loureiro C, Martínez-Cerdeño V, Martínez-Levy G, Melin K, Moreno-De-Luca D, Muniz Carvalho C, Olivares A, Oliveira V, Ormond R, Palmer A, Panzenhagen A, Passos-Bueno M, Peng Q, Pérez-Palma E, Prieto M, Roussos P, Sanchez-Roige S, Santamaría-García H, Shansis F, Sharp R, Storch E, Tavares M, Tietz G, Torres-Hernández B, Tovo-Rodrigues L, Trelles P, Trujillo-ChiVacuan E, Velásquez M, Vera-Urbina F, Voloudakis G, Wegman-Ostrosky T, Zhen-Duan J, Zhou H, Santoro M, Nicolini H, Atkinson E, Giusti-Rodríguez P, Montalvo-Ortiz J. Psychiatric genetics in the diverse landscape of Latin American populations. Nature Genetics 2025, 57: 1074-1088. PMID: 40175716, PMCID: PMC12133068, DOI: 10.1038/s41588-025-02127-z.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPsychiatric genomicsPsychiatric genome-wide association studiesLarge-scale genome-wide association studiesGenetic risk lociNon-European populationsGenetic diversityRisk lociGenetic admixtureBurden of psychiatric disordersAssociation studiesPsychiatric disordersEuropean ancestryPsychiatric geneticsGenomeHealthcare disparitiesConsortium effortLatin American populationsPromote equityEnvironmental factorsDiversityAmerican populationDiverse landscapeLociAncestryPsychiatric Genetics in Clinical Practice: Essential Knowledge for Mental Health Professionals.
Besterman A, Alnor M, Castaño M, DeLisi L, Grice D, Lohoff F, Middeldorp C, Müller D, Quattrone D, Nurnberger J, Nurmi E, Ross D, Soda T, Schulze T, Trost B, Vilella E, Yap C, Zai G, Moreno-De-Luca D. Psychiatric Genetics in Clinical Practice: Essential Knowledge for Mental Health Professionals. American Journal Of Psychiatry 2025, appiajp20240295. PMID: 40134266, DOI: 10.1176/appi.ajp.20240295.Peer-Reviewed Original ResearchMental health cliniciansHealth cliniciansPsychiatric geneticsHolistic model of careGenetic architecture of psychiatric disordersModels of careMental health outcomesApplication of genetic informationMental health professionalsGene-environment interactionsClinical practiceRare genetic variantsGenetics professionalsPower of geneticsHealth professionalsHealth outcomesEffective communication strategiesOngoing educationPatient educationFamilial aggregationGenetic architectureSubspecialty expertsGenetic dataNon-genetic factorsGenetic informationDiversifying Psychiatric Genomics Globally Inclusive Strategies Toward Health Equity
Giusti-Rodríguez P, Okewole N, Jain S, Montalvo-Ortiz J, Peterson R. Diversifying Psychiatric Genomics Globally Inclusive Strategies Toward Health Equity. Psychiatric Clinics Of North America 2025, 48: 241-256. PMID: 40348415, DOI: 10.1016/j.psc.2025.01.003.Peer-Reviewed Original ResearchConceptsPerpetuate health inequitiesHealth care outcomesMental health conditionsHealth inequalitiesCare outcomesMental healthHealth conditionsAncestral diversityPsychiatric geneticsCapacity buildingData useDisease etiologyEnvironmental factorsPrecision medicineClinical impactGlobal collaborationHealthParticipantsResearch methodOutcomesMedicineGeneticsPopulationPracticeResearch
2024
Review: 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 disorder
2023
Common Alleles: Next Steps in the Study of Common Variants
Won H, Wray N, Binder E, Brennand K, Franke B, Gandal M, Stevens B, Südhof T, Ziller M. Common Alleles: Next Steps in the Study of Common Variants. 2023, 131-154. DOI: 10.7551/mitpress/15380.003.0014.Peer-Reviewed Original ResearchOpen Science Practices in Psychiatric Genetics: A Primer
Kępińska A, Johnson J, Huckins L. Open Science Practices in Psychiatric Genetics: A Primer. Biological Psychiatry Global Open Science 2023, 4: 110-119. PMID: 38298792, PMCID: PMC10829621, DOI: 10.1016/j.bpsgos.2023.08.007.Peer-Reviewed Original ResearchApplications of Polygenic Risk Scores in Psychiatric Genetics.
Mao Q, Lan Z, Liu P, Guo D, Wang X, Lin J, Luo X. Applications of Polygenic Risk Scores in Psychiatric Genetics. EC Psychology And Psychiatry 2023, 12: 19-21. PMID: 37040293, PMCID: PMC10081519.Peer-Reviewed Original Research
2022
Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits
Lencz T, Sabatello M, Docherty A, Peterson R, Soda T, Austin J, Bierut L, Crepaz-Keay D, Curtis D, Degenhardt F, Huckins L, Lazaro-Munoz G, Mattheisen M, Meiser B, Peay H, Rietschel M, Walss-Bass C, Davis L. Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits. The Lancet Psychiatry 2022, 9: 838-844. PMID: 35931093, PMCID: PMC9930635, DOI: 10.1016/s2215-0366(22)00157-2.Peer-Reviewed Original ResearchConceptsRisk of complex diseasesPolygenic risk scoresEthical issuesEthical implicationsPersonal viewEmbryo screeningGenetic riskRisk scorePolygenic embryo screeningPsychiatric geneticsInternational Society of Psychiatric GeneticsComplex diseasesViewsPsychiatric disordersRelevant stakeholdersScreeningIn vitro fertilisationScreen embryosInternational SocietyPersonsPrivate companiesSocietyClinical application
2021
Ancestry may confound genetic machine learning: Candidate-gene prediction of opioid use disorder as an example
Hatoum AS, Wendt FR, Galimberti M, Polimanti R, Neale B, Kranzler HR, Gelernter J, Edenberg HJ, Agrawal A. Ancestry may confound genetic machine learning: Candidate-gene prediction of opioid use disorder as an example. Drug And Alcohol Dependence 2021, 229: 109115. PMID: 34710714, PMCID: PMC9358969, DOI: 10.1016/j.drugalcdep.2021.109115.Peer-Reviewed Original ResearchConceptsGenome-wide significant variantsCandidate gene predictionGenetic predictionRandom SNPsPolygenic traitRandom phenotypeCandidate SNPsSimulated phenotypesPsychiatric geneticsGenetic machineSignificant variantsBinary phenotypesCandidate variantsSNPsAncestryPhenotypeAllele frequenciesVariantsMachine learning modelsGenetic testsLearning model
2020
Parsing the Functional Impact of Noncoding Genetic Variants in the Brain Epigenome
Powell SK, O'Shea C, Brennand KJ, Akbarian S. Parsing the Functional Impact of Noncoding Genetic Variants in the Brain Epigenome. Biological Psychiatry 2020, 89: 65-75. PMID: 33131715, PMCID: PMC7718420, DOI: 10.1016/j.biopsych.2020.06.033.Peer-Reviewed Original ResearchConceptsGenetic variantsDisease-associated genetic variationProtein-coding lociRisk-associated genetic variantsGene regulatory lociThousands of variantsFunctional impactRare genetic variantsEpigenomic mappingRegulatory lociBrain epigenomeGenetic variationDNA sequencesNoncoding variantsGene expressionIntegrative analysisEpigenomic architectureMolecular pathwaysPsychiatric geneticsFunctional readoutRisk variantsLociVariantsHighlight findingsEpigenome
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 professionals
2017
A genome-wide gene-by-trauma interaction study of alcohol misuse in two independent cohorts identifies PRKG1 as a risk locus
Polimanti R, Kaufman J, Zhao H, Kranzler HR, Ursano RJ, Kessler RC, Gelernter J, Stein MB. A genome-wide gene-by-trauma interaction study of alcohol misuse in two independent cohorts identifies PRKG1 as a risk locus. Molecular Psychiatry 2017, 23: 154-160. PMID: 28265120, PMCID: PMC5589475, DOI: 10.1038/mp.2017.24.Peer-Reviewed Original ResearchConceptsGenome-wide interaction studyGene Ontology (GO) enrichment analysisOntology enrichment analysisProtein kinase 1Protein regulationSame effect directionCyclic GMP-dependent protein kinase 1Circadian rhythm regulationRisk lociWide geneEnrichment analysisInteraction studiesKinase 1Individual genetic riskPsychiatric geneticsCalcium-activated potassium channelsGenesLociPRKG1Potassium channelsEffect directionRhythm regulationAlcohol use problemsRegulationAlcohol misuse
2014
Genetics of Complex Traits in Psychiatry
Gelernter J. Genetics of Complex Traits in Psychiatry. Biological Psychiatry 2014, 77: 36-42. PMID: 25444161, PMCID: PMC4282183, DOI: 10.1016/j.biopsych.2014.08.005.Peer-Reviewed Original ResearchConceptsComplex traitsNext-generation high-throughput sequencingGenome-wide association studiesHigh-throughput sequencingSingle nucleotide polymorphismsEpigenetic effectsRisk allelesAssociation studiesExpression dataMultiple risk allelesPsychiatric geneticsPsychiatric traitsNumber variantsNucleotide polymorphismsTraitsGeneticsNew mutationsTrait riskAllelesEpistasisMinor effectMethylationKind of variationVariantsSequencing
2012
Genetics of Tourette syndrome and related disorders
Motlagh M, Fernandez T, Leckman J. Genetics of Tourette syndrome and related disorders. 2012, 336-346. DOI: 10.1017/cbo9781139025997.029.ChaptersPsychiatric geneticsGenome-wide association studiesGene expression studiesPsychiatric genetic studiesSpecific genesExpression studiesAssociation studiesGenetic studiesGenetic databasesGeneticsGenetic epidemiologyWorldwide distributionVaried rolesBrain developmentGenetic influencesEpigeneticsDevelopmental disordersGenesAlzheimer's diseaseDysregulationFamilyRelated disorders
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