2025
Protocol to implement saturation mutagenesis-reinforced functional assays to resolve small-sized variants in disease-related genes
Gauthier L, Wang Z, Ng K, Huang S, Mao Y, Lek M, Ma K. Protocol to implement saturation mutagenesis-reinforced functional assays to resolve small-sized variants in disease-related genes. STAR Protocols 2025, 6: 103909. PMID: 40540392, DOI: 10.1016/j.xpro.2025.103909.Peer-Reviewed Original ResearchDisease-related genesDisease-causing genetic variantsFluorescence-based cell sortingNext-generation sequencingFunctional assaysDisease genesAllelic seriesSaturation mutagenesisGenetic variantsGenesFunctional impactCell sortingHigh-throughputVariantsDisease fieldAssayMutagenesisSequenceCellsNucleofectionSortingGenome-wide meta-analysis identifies nine loci to be associated with higher risk of hepatocellular carcinoma development.
Ghouse J, Gellert-Kristensen H, O’Rourke C, Seidelin A, Thorleifsson G, Sveinbjörnsson G, Tragante V, Konkwo C, Brancale J, Vilarinho S, Eyrich T, Ahlberg G, Bundgaard J, Rand S, Lundegaard P, Sørensen E, Mikkelsen C, Træholt J, Erikstrup C, Dinh K, Bruun M, Jensen B, Bay J, Brunak S, Banasik K, Ullum H, Consortium E, Laisk T, Mägi R, Nadauld L, Knowlton K, Knight S, Gluud L, Vistisen K, Björnsson E, Ulfarsson M, Sulem P, Holm H, Pedersen O, Ostrowski S, Gudbjartsson D, Rafnar T, Stefansson K, Lassen U, Pommergaard H, Hillingsø J, Andersen J, Bundgaard H, Stender S. Genome-wide meta-analysis identifies nine loci to be associated with higher risk of hepatocellular carcinoma development. JHEP Reports 2025, 101485. DOI: 10.1016/j.jhepr.2025.101485.Peer-Reviewed Original ResearchGenome-wide association studiesAssociated with higher riskGenome-wide statistical significanceIncident hepatocellular carcinomaMendelian randomization analysisGenome-wide meta-analysisIdentified variantsPer-allele effectsMeta-analysisMendelian randomizationGenetic risk lociPrevalent obesityRandomization analysisAlcohol intakeMeta-analysesRisk lociAssociation studiesRisk factorsGenetic variantsGenetic underpinningsRisk of hepatocellular carcinomaLociGenetic effectsCohortConcordant effectsGenome-wide analyses identify 30 loci associated with obsessive–compulsive disorder
Strom N, Gerring Z, Galimberti M, Yu D, Halvorsen M, Abdellaoui A, Rodriguez-Fontenla C, Sealock J, Bigdeli T, Coleman J, Mahjani B, Thorp J, Bey K, Burton C, Luykx J, Zai G, Alemany S, Andre C, Askland K, Bäckman J, Banaj N, Barlassina C, Nissen J, Bienvenu O, Black D, Bloch M, Børte S, Bosch R, Breen M, Brennan B, Brentani H, Buxbaum J, Bybjerg-Grauholm J, Byrne E, Cabana-Dominguez J, Camarena B, Camarena A, Cappi C, Carracedo A, Casas M, Cavallini M, Ciullo V, Cook E, Crosby J, Cullen B, De Schipper E, Delorme R, Djurovic S, Elias J, Estivill X, Falkenstein M, Fundin B, Garner L, Gironda C, Goes F, Grados M, Grove J, Guo W, Haavik J, Hagen K, Harrington K, Havdahl A, Höffler K, Hounie A, Hucks D, Hultman C, Janecka M, Jenike E, Karlsson E, Kelley K, Klawohn J, Krasnow J, Krebs K, Lange C, Lanzagorta N, Levey D, Lindblad-Toh K, Macciardi F, Maher B, Mathes B, McArthur E, McGregor N, McLaughlin N, Meier S, Miguel E, Mulhern M, Nestadt P, Nurmi E, O’Connell K, Osiecki L, Ousdal O, Palviainen T, Pedersen N, Piras F, Piras F, Potluri S, Rabionet R, Ramirez A, Rauch S, Reichenberg A, Riddle M, Ripke S, Rosário M, Sampaio A, Schiele M, Skogholt A, Sloofman L, Smit J, Artigas M, Thomas L, Tifft E, Vallada H, van Kirk N, Veenstra-VanderWeele J, Vulink N, Walker C, Wang Y, Wendland J, Winsvold B, Yao Y, Zhou H, Agrawal A, Alonso P, Berberich G, Bucholz K, Bulik C, Cath D, Denys D, Eapen V, Edenberg H, Falkai P, Fernandez T, Fyer A, Gaziano J, Geller D, Grabe H, Greenberg B, Hanna G, Hickie I, Hougaard D, Kathmann N, Kennedy J, Lai D, Landén M, Hellard S, Leboyer M, Lochner C, McCracken J, Medland S, Mortensen P, Neale B, Nicolini H, Nordentoft M, Pato M, Pato C, Pauls D, Piacentini J, Pittenger C, Posthuma D, Ramos-Quiroga J, Rasmussen S, Richter M, Rosenberg D, Ruhrmann S, Samuels J, Sandin S, Sandor P, Spalletta G, Stein D, Stewart S, Storch E, Stranger B, Turiel M, Werge T, Andreassen O, Børglum A, Walitza S, Hveem K, Hansen B, Rück C, Martin N, Milani L, Mors O, Reichborn-Kjennerud T, Ribasés M, Kvale G, Mataix-Cols D, Domschke K, Grünblatt E, Wagner M, Zwart J, Breen G, Nestadt G, Kaprio J, Arnold P, Grice D, Knowles J, Ask H, Verweij K, Davis L, Smit D, Crowley J, Scharf J, Stein M, Gelernter J, Mathews C, Derks E, Mattheisen M. Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder. Nature Genetics 2025, 57: 1389-1401. PMID: 40360802, PMCID: PMC12165847, DOI: 10.1038/s41588-025-02189-z.Peer-Reviewed Original ResearchConceptsObsessive-compulsive disorderGenome-wide association studiesGenetic riskObsessive-compulsive disorder casesGenome-wide significant lociMedium spiny neuronsGenome-wide analysisMajor histocompatibility complexGene-based approachPsychiatric disordersSpiny neuronsTourette syndromeAnorexia nervosaSignificant lociEffector genesAssociation studiesAssociated with excitatory neuronsMultiple genesGenetic variantsAssociated with inflammatory bowel diseaseBody mass indexGenetic heritabilityDisordersExcitatory neuronsInflammatory bowel diseaseAssociation of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity
Novotny S, Yoo N, Chen J, Granoth M, Kohli-Pamnani A, Hsu F, Rodenas M, Steele R, Kaman K, Soffer G, Price C, Kuster J, Kang I, Osmani L, Shin J. Association of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity. Clinical Immunology 2025, 277: 110513. PMID: 40354868, DOI: 10.1016/j.clim.2025.110513.Peer-Reviewed Original ResearchInborn errors of immunityErrors of immunityGenetic variantsInborn errorsAssociation of clinical manifestationsGene clusterGene functionStudy evaluated associationsImmune alterationsDiagnostic challengeClinical manifestationsImmunological profileGenetic testingVUSGenesImmunological characteristicsImmune functionLaboratory dataImmunityVariantsAssociationPatientsSex-specific genetic effects on susceptibility to idiopathic pulmonary fibrosis
Leavy O, Goemans A, Hernandez-Beeftink T, Stockwell A, Allen R, Guillen-Guio B, Adegunsoye A, Booth H, Fahy W, Fingerlin T, Virk H, Hall I, Hart S, Hill M, Hirani N, Kaminski N, Ma S, McAnulty R, Sheng X, Millar A, Molina-Molina M, Navaratnam V, Neighbors M, Parfrey H, Saini G, Sayers I, Strek M, Tobin M, Whyte M, Zhang Y, Maher T, Molyneaux P, Oldham J, Yaspan B, Flores C, Martinez F, Reynolds C, Schwartz D, Noth I, Jenkins R, Wain L. Sex-specific genetic effects on susceptibility to idiopathic pulmonary fibrosis. ERJ Open Research 2025, 00200-2025. DOI: 10.1183/23120541.00200-2025.Peer-Reviewed Original ResearchPolygenic risk scoresIdiopathic pulmonary fibrosis riskGenetic association signalsIdiopathic pulmonary fibrosis susceptibilitySNP-based polygenic risk scoresAssociation signalsSex-specific genetic effectsGenetic risk predictionEvaluate genetic risksSex-specific associationsStudy meta-analysisEuropean genetic ancestryCase-control studyIdiopathic pulmonary fibrosisChronic lung conditionsGenetic riskAutosomal variantsSusceptibility to idiopathic pulmonary fibrosisRisk scoreGenetic ancestryDiagnostic biasAssociation resultsClinical prediction modelGenetic variantsMeta-analysisIntegrating HiTOP and RDoC frameworks Part I: Genetic architecture of externalizing and internalizing psychopathology
Davis C, Khan Y, Toikumo S, Jinwala Z, Boomsma D, Levey D, Gelernter J, Kember R, Kranzler H. Integrating HiTOP and RDoC frameworks Part I: Genetic architecture of externalizing and internalizing psychopathology. Psychological Medicine 2025, 55: e138. PMID: 40336358, PMCID: PMC12094639, DOI: 10.1017/s0033291725000856.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesMultivariate genome-wide association studyGenetic architectureComorbid forms of psychopathologyHierarchical Taxonomy of PsychopathologyBivariate causal mixture modelResearch Domain CriteriaTaxonomy of PsychopathologyPsychiatric classification systemsConfirmatory factor modelsInternalizing psychopathologyComorbid formsGenetic liabilityPsychopathologyTwo-factorHierarchical taxonomyModerate genetic correlationLatent factorsAssociation studiesBiological basisHiTOPReference panelGenetic underpinningsFactor modelGenetic variantsBayesian Longitudinal Network Regression With Application to Brain Connectome Genetics
Li C, Tian X, Gao S, Wang S, Wang G, Zhao Y, Zhao Y. Bayesian Longitudinal Network Regression With Application to Brain Connectome Genetics. Statistics In Medicine 2025, 44: e70069. PMID: 40277222, DOI: 10.1002/sim.70069.Peer-Reviewed Original ResearchConceptsSample relatednessLongitudinal genome-wide association studiesGenome-wide association studiesBrain imaging genetic studiesMultivariate phenotypesGenetic signalsImaging genetics studiesAssociation studiesGenetic studiesGenetic variantsGenetic underpinningsGenetic contributionGenetic effectsRelatednessAdolescent Brain Cognitive DevelopmentBrain functional connectivityFunctional organizationBiological architectureFunctional connectivityRobust inferenceGeneticsPhenotypeAnalytical challengesPosterior inferenceBrain network configurationIdentification of genetic architecture shared between schizophrenia and Alzheimer’s disease
Liu H, Xie Y, Ji Y, Zhou Y, Xu J, Tang J, Liu N, Ding H, Qin W, Liu F, Yu C. Identification of genetic architecture shared between schizophrenia and Alzheimer’s disease. Translational Psychiatry 2025, 15: 150. PMID: 40240757, PMCID: PMC12003746, DOI: 10.1038/s41398-025-03348-w.Peer-Reviewed Original ResearchConceptsPolygenic overlapFalse discovery rateGenetic architectureAlzheimer's diseaseConditional/conjunctional false discovery rateConditional false discovery rateGenome-wide association studiesIndividuals of European ancestryConcordant effect directionsGenetic risk architectureMolecular genetic mechanismsHeritable brain disorderAssociation studiesGenetic mechanismsGenetic variantsEuropean ancestryGenetic associationObserved comorbiditySchizophreniaSNPsDiscovery rateCognitive declineRisk architectureBrain disordersGenetic correlationsBiallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss
Landry-Voyer A, Holling T, Mis E, Hassani Z, Alawi M, Ji W, Jeffries L, Kutsche K, Bachand F, Lakhani S. Biallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2426078122. PMID: 40208938, PMCID: PMC12012559, DOI: 10.1073/pnas.2426078122.Peer-Reviewed Original ResearchConceptsRibosomal RNA processingRNA processingNonimmune hydrops fetalisRibosomal biogenesis disordersNext generation sequencingRibosome biogenesisPregnancy lossPatient variantsMolecular chaperonesExome sequencingGeneration sequencingPDCD2Biallelic variantsGenetic variantsHydrops fetalisIndependent familiesIn vivo approachesAffected fetusMolecular causesPrimary fibroblastsDevelopmental defectsMonogenic disordersAssociated with hydrops fetalisUS5Early pregnancy lossCase Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure
Householder S, Nagar R, Shah N, Forward J, Bickerton S, Mistry P, Faustino E. Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure. Frontiers In Pediatrics 2025, 13: 1476541. PMID: 40161497, PMCID: PMC11949815, DOI: 10.3389/fped.2025.1476541.Peer-Reviewed Original ResearchWhole-genome sequencingDiagnosis of Gaucher diseasePathogenic variantsGaucher diseaseAcute respiratory distress syndromeB-glucosidase activityGBA1</i> genePathogenic genetic variantsCompound heterozygote mutationsAcute respiratory failureRespiratory distress syndromeEvidence of aspirationConditions of cardiac arrestEnzyme replacement therapyAcute respiratory distressSevere bulbar dysfunctionInborn errors of metabolismMultidisciplinary approachErrors of metabolismGenetic variantsComprehensive multidisciplinary approachRespiratory failureDistress syndromeHeterozygote mutationMale infantOptimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants
Yuan M, Goovaerts S, Lee M, Devine J, Richmond S, Walsh S, Shriver M, Shaffer J, Marazita M, Peeters H, Weinberg S, Claes P. Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants. Briefings In Bioinformatics 2025, 26: bbaf090. PMID: 40062617, PMCID: PMC11891655, DOI: 10.1093/bib/bbaf090.Peer-Reviewed Original ResearchConceptsRare variant association studiesGenome-wide association studiesComplex morphological traitsGenomic lociSNP heritabilityAssociation studiesRare variantsPhenotypic variationMorphological traitsAxes of phenotypic variationContext of genome-wide association studiesVariant association studiesIndividuals of European ancestryGene-based testsLinkage disequilibrium score regressionRare genetic variantsGenomic relatednessOptimal phenotypeUnrelated individualsGenetic variantsRelevant traitsEuropean ancestryScore regressionPhenotype distributionFamily dataPharmacogenomics of the Etonogestrel Contraceptive Implant
Lazorwitz A, Aquilante C, Shortt J, Gignoux C, Teal S, Sheeder J. Pharmacogenomics of the Etonogestrel Contraceptive Implant. O&G Open 2025, 2: e066. DOI: 10.1097/og9.0000000000000066.Peer-Reviewed Original ResearchGenome-wide complex trait analysisComplex trait analysisSerum etonogestrel concentrationsBody mass indexGenetic lociEtonogestrel concentrationsDuration of implant useGenetic variantsTrait analysisGenome-wide significanceRare genetic variantsTOPMed imputation serverImplant usersExtraction of DNAImplant useImputation ServerMedian body mass indexPharmacogenomic variantsSteroid hormone metabolismContraceptive implant usersEtonogestrel contraceptive implantEtonogestrel implant usersAssociation analysisAllele frequenciesGenotyping resultsIdentifying Genetic Variants for Brain Connectivity Using Ball Covariance Ranking and Aggregation
Dai W, Zhang H. Identifying Genetic Variants for Brain Connectivity Using Ball Covariance Ranking and Aggregation. Journal Of The American Statistical Association 2025, ahead-of-print: 1-19. DOI: 10.1080/01621459.2025.2450837.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsDetect single nucleotide polymorphismsGene-based analysisControlling false discovery rateControlling false discoveriesSNP setsFunctional connectivityFalse discovery rateGenetic architectureNovel genesGenetic basisNucleotide polymorphismsGenetic variantsUK Biobank dataPsychiatric disordersDiscovery rateBrain functionFalse discoveriesBiobank dataCorrelations of neural activityBrain regionsBiological etiologyBrain connectivityEQTLNeural activityModeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?
Prendergast A, Sheppard M, Famulski J, Nicoli S, Mukherjee S, Sips P, Elefteriades J. Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity? Frontiers In Cardiovascular Medicine 2025, 12: 1480407. PMID: 40066353, PMCID: PMC11892108, DOI: 10.3389/fcvm.2025.1480407.Peer-Reviewed Original ResearchPathogenicity of VUSProportion of variantsMedical genetic testingCausal genesPathogenicity assessmentClinical pathogensTested pathogensGenetic variantsCausative genesTAAD casesGenesGenetic defectsGenetic testingThoracic aortic aneurysmHeritable genetic defectsImpact cardiovascular morbidityPathogensVUSAortic aneurysmCardiovascular morbidityVariantsZebrafishTAADClinical applicationEnhance patient careAutosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma
Jiang X, Mortlock R, Lomakin I, Zhou J, Hu R, Cossio M, Bunick C, Choate K. Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma. British Journal Of Dermatology 2025, 192: 896-906. PMID: 39913669, PMCID: PMC12036768, DOI: 10.1093/bjd/ljaf049.Peer-Reviewed Original ResearchProgressive symmetric erythrokeratodermaAmino acidsGenetic variantsPathogenic variantsNF-kB signalingPalmoplantar keratodermaSpatial transcriptomicsPatient keratinocytesWhole-exome sequencingSLURP1 expressionIn silico predictionVariant consequencesSignal peptideMal de MeledaExome sequencingSecreted proteinsHealthy control cellsInnate immune activationIn silico modelsPhenotypic spectrumControl cellsConfirmed with mass spectrometryAminoAutosomal dominant transmissionTranscriptomeDiagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey
Moen E, Prior T, Kreuter M, Wuyts W, Molina-Molina M, Wijsenbeek M, Morais A, Tzouvelekis A, Ryerson C, Caro F, Buendia-Roldan I, Magnusson J, Lee J, Morisett J, Oldham J, Troy L, Funke-Chambour M, Alberti M, Borie R, Walsh S, Rajan S, Kondoh Y, Khor Y, Bendstrup E. Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey. BMC Pulmonary Medicine 2025, 25: 59. PMID: 39901224, PMCID: PMC11792556, DOI: 10.1186/s12890-025-03532-0.Peer-Reviewed Original ResearchConceptsGenetic testing methodsMultidisciplinary teamGenetic testingFamily historyInterstitial lung diseaseHistory of interstitial lung diseaseRecommended genetic testingScreening of first-degree relativesFamilial interstitial lung diseaseEvidence-based guidelinesGenetic screening of relativesScreening of relativesFirst-degree relativesCharacteristics of respondentsInternational surveyPathogenic genetic variantsScreening toolLung transplantationInsufficient evidenceLung diseaseConsensus statementGenetic variantsFollow-up of patientsStandard programRespondentsInvestigating the Contribution of Coding Variants in Alcohol Use Disorder Using Whole-Exome Sequencing Across Ancestries
Wang L, Kranzler H, Gelernter J, Zhou H. Investigating the Contribution of Coding Variants in Alcohol Use Disorder Using Whole-Exome Sequencing Across Ancestries. Biological Psychiatry 2025, 98: 46-55. PMID: 39892688, PMCID: PMC12167164, DOI: 10.1016/j.biopsych.2025.01.020.Peer-Reviewed Original ResearchContribution of coding variantsGene-based collapsing testAlcohol use disorderAnalyzed whole-exome sequencing dataEuropean ancestryContribution of rare coding variantsRare loss-of-functionWhole-exome sequencing dataWhole-exome sequencing studiesRare coding variantsAfrican ancestryWhole-exome sequencingLoss-of-functionGenetic architectureSequence dataAllelic heterogeneityMissense variantsGenetic variantsAllele frequenciesRare variantsYale-PennStudy of alcohol use disorderUK BiobankUK Biobank cohortVariantsUtility of Candidate Genes From an Algorithm Designed to Predict Genetic Risk for Opioid Use Disorder
Davis C, Jinwala Z, Hatoum A, Toikumo S, Agrawal A, Rentsch C, Edenberg H, Baurley J, Hartwell E, Crist R, Gray J, Justice A, Gelernter J, Kember R, Kranzler H, Muralidhar S, Moser J, Deen J, Tsao P, Gaziano J, Hauser E, Kilbourne A, Matheny M, Oslin D, Churby L, Whitbourne S, Brewer J, Shayan S, Selva L, Pyarajan S, Cho K, DuVall S, Brophy M, Stephens B, Connor T, Argyres D, Assimes T, Hung A, Kranzler H, Aguayo S, Ahuja S, Alexander K, Androulakis X, Balasubramanian P, Ballas Z, Beckham J, Bhushan S, Boyko E, Cohen D, Dellitalia L, Faulk L, Fayad J, Fujii D, Gappy S, Gesek F, Greco J, Godschalk M, Gress T, Gupta S, Gutierrez S, Harley J, Hamner M, Hurley R, Iruvanti P, Jacono F, Jhala D, Kinlay S, Landry M, Liang P, Liangpunsakul S, Lichy J, Mahan C, Marrache R, Mastorides S, Mattocks K, Meyer P, Moorman J, Morgan T, Murdoch M, Norton J, Okusaga O, Oursler K, Poon S, Rauchman M, Servatius R, Sharma S, Smith R, Sriram P, Strollo P, Tandon N, Villareal G, Walsh J, Wells J, Whittle J, Whooley M, Wilson P, Xu J, Yeh S, Bast E, Dryden G, Hogan D, Joshi S, Lo T, Morales P, Naik E, Ong M, Petrakis I, Rai A, Yen A. Utility of Candidate Genes From an Algorithm Designed to Predict Genetic Risk for Opioid Use Disorder. JAMA Network Open 2025, 8: e2453913. PMID: 39786773, PMCID: PMC11718552, DOI: 10.1001/jamanetworkopen.2024.53913.Peer-Reviewed Original ResearchConceptsOpioid use disorder riskElectronic health record dataHealth record dataInternational Classification of DiseasesOpioid use disorderClassification of DiseasesGenetic variantsInternational ClassificationGenetic riskRecord dataRisk of opioid use disorderMillion Veteran ProgramOpioid use disorder diagnosisUse disorderCase-control studyVeteran ProgramMain OutcomesDiagnostic codesClinical careOpioid exposurePharmacy recordsLogistic regressionRisk allelesNagelkerke R2Clinically useful modelAssociations of Genetically Predicted NPR3 and NPR2 Perturbation and Preeclampsia Risk: A Two‐Sample Mendelian Randomization Analysis
de La Harpe R, Rogne T, Nyberg M, Cronjé H, Burgess S, Karhunen V, Gill D. Associations of Genetically Predicted NPR3 and NPR2 Perturbation and Preeclampsia Risk: A Two‐Sample Mendelian Randomization Analysis. International Journal Of Hypertension 2025, 2025: 9972031. PMID: 40406480, PMCID: PMC12097871, DOI: 10.1155/ijhy/9972031.Peer-Reviewed Original ResearchGenome-wide association studiesMendelian randomizationTwo-sample Mendelian randomization analysisRisk of preeclampsiaTwo-sample MR analysisGenetic association estimatesGenetic instrumental variablesPreeclampsia riskMendelian randomization analysisFemale participantsC-type natriuretic peptideIndividual-level dataEffects of C-type natriuretic peptideGenetic instrumentsMR analysisUK BiobankRandomization analysisAssociation estimatesMR paradigmAssociation studiesGenetic variantsPregnancy complicationsProtective effects of C-type natriuretic peptideTwo-sampleInstrumental variablesCopy Number Variations in the Brazilian High-Risk Cohort for Mental Conditions.
Arendt J, Zamariolli M, Almodobar L, Ito L, Ormond R, Oliveira A, Ota V, Rohde L, Miguel E, Pan P, Bressan R, Salum G, Belangero S, Santoro M. Copy Number Variations in the Brazilian High-Risk Cohort for Mental Conditions. Brazilian Journal Of Psychiatry 2025 PMID: 40014503, DOI: 10.47626/1516-4446-2024-3765.Peer-Reviewed Original ResearchCopy number variationsDatabase of Genomic VariantsNumber variationsMental health disordersCopy number variation studiesImpact of copy number variationsGenome Aggregation DatabasePennCNV softwareGenomic variantsGenetic variantsAggregation DatabaseAssociated with mental health disordersDevelopment of mental health disordersHigh-risk cohortInheritance patternMental conditionBrazilian High-Risk Cohort StudyHigh Risk Cohort StudyMild effect sizeCohort studyBrazilian cohortCopyHealth disordersDuplicationMeta-analysis
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