Selected Publications

• Genome-wide investigation highlights global and local pleiotropy linking neurodevelopmental disorders to acquired hearing problems.Zhang Q, Cabrera-Mendoza B, Chen Q, Davtian D, Qiu D, He J, Polimanti R. Psychol Med. 2026 Jan 28; 2026 Jan 28. PMID: 41593863.
• Assessing the comorbidity between asthma and depression through polygenic risk scoring and time-to-event models.Wang X, He J, Cabrera-Mendoza B, Qiu D, Mao Z, Gu W, Liu Y, Kim J, Polimanti R. BMC Med. 2026 Jan 22; 2026 Jan 22. PMID: 41572266.
• Understanding the Comorbidities Among Psychiatric Disorders, Chronic Low Back Pain, and Spinal Degenerative Disease Using Observational and Genetically Informed Analyses.Qiu D, Friligkou E, He J, Cabrera-Mendoza B, Aslan M, Gupta M, Polimanti R. Biol Psychiatry Glob Open Sci. 2025 Nov; 2025 Aug 11. PMID: 41036474.
• The landscape of suicide risk factors in Latin America.Cabrera-Mendoza B, Fries GR, Polimanti R. Psychiatry Res. 2025 Sep; 2025 Jun 16. PMID: 40674133.
• Epigenetic and genetic profiling of comorbidity patterns among substance dependence diagnoses.Pathak GA, Pietrzak RH, Lacobelle A, Overstreet C, Wendt FR, Deak JD, Friligkou E, Nunez YZ, Montalvo-Ortiz JL, Levey DF, Kranzler HR, Gelernter J, Polimanti R. Mol Psychiatry. 2025 Sep; 2025 Apr 17. PMID: 40247127.
• Age-, sex-, and ancestry-specific prevalence of hearing loss in UK Biobank and All of Us Research Program.He J, Curhan SG, Curhan GC, Polimanti R. Aging Dis. 2025 Jul 16; 2025 Jul 16. PMID: 40681351.
• Integration of Metabolomic and Brain Imaging Data Highlights Pleiotropy Among Posttraumatic Stress Disorder, Glycoprotein Acetyls, and Pallidum Structure.Løkhammer S, Tesfaye M, Cabrera-Mendoza B, Sandås K, Pathak GA, Friligkou E, Le Hellard S, Polimanti R. Biol Psychiatry Glob Open Sci. 2025 Jul; 2025 Mar 17. PMID: 40270839.
• Integrating genome-wide information and wearable device data to explore the link of anxiety and antidepressants with pulse rate variability.Friligkou E, Koller D, Pathak GA, Miller EJ, Lampert R, Stein MB, Polimanti R. Mol Psychiatry. 2025 Jun; 2024 Nov 18. PMID: 39558002.
• Unraveling the genetics of gulf war illness in diverse participants enrolled in the million veteran program.Pathak GA, Koller D, Cabrera-Mendoza B, Nono Djotsa ABS, Wendt FR, De Lillo A, Friligkou E, He J, Kouakou MR, Duong LM, Vahey J, Steele L, Quaden R, Harrington KM, Ahmed ST, Gaziano JM, Concato J, Zhao H, Radhakrishnan K, Gelernter J, Gifford E, Aslan M, Helmer DA, Hauser ER, Polimanti R. Hum Mol Genet. 2025 May 14; 2025 May 14. PMID: 40366759.
• Characterizing pleiotropy among bipolar disorder, schizophrenia, and major depression: a genome-wide cross-disorder meta-analysis.Friligkou E, Pathak GA, Tylee DS, De Lillo A, Koller D, Cabrera-Mendoza B, Polimanti R. Psychol Med. 2025 May 13; 2025 May 13. PMID: 40357923.
• Sex differences in the confounders influencing the relationships linking socioeconomic factors and cognitive performance with family history of Alzheimer's disease and related dementias.He J, Cabrera-Mendoza B, Friligkou E, Mecca AP, van Dyck CH, Pathak GA, Polimanti R. Alzheimers Dement. 2025 May. PMID: 40421744.
• Observational and Genetic Analyses of Traumatic Experiences and Endometriosis.Koller D, Løkhammer S, Goroshchuk O, Denner V, Stiltner B, Mitjans M, He J, Taylor HS, Lawn RB, Koenen KC, Polimanti R. JAMA Psychiatry. 2025 Apr 1. PMID: 39908042.
• Brain-wide pleiotropy investigation of alcohol drinking and tobacco smoking behaviors.Deiana G, He J, Cabrera-Mendoza B, Ciccocioppo R, Napolioni V, Polimanti R. Transl Psychiatry. 2025 Feb 20; 2025 Feb 20. PMID: 39979292.
• Genetically Informed Study Highlights Income-Independent Effect of Schizophrenia Liability on Mental and Physical Health.Kouakou MR, Cabrera-Mendoza B, Pathak GA, Cannon TD, Polimanti R. Schizophr Bull. 2024 Dec 20. PMID: 38848523.
• Identifying Genetically Inferred Effects Linking Posttraumatic Stress Disorder to Women's Health, Lipid Disorders, and Malaria Medications.Pathak GA, Wendt FR, Maihofer AX, Ressler KJ, Stein MB, Koenen KC, Nievergelt CM, Polimanti R. Am J Psychiatry. 2024 Dec 1; 2024 Oct 9. PMID: 39380377.
• Sex differences in the pleiotropy of hearing difficulty with imaging-derived phenotypes: a brain-wide investigation.He J, Cabrera-Mendoza B, De Angelis F, Pathak GA, Koller D, Curhan SG, Curhan GC, Mecca AP, van Dyck CH, Polimanti R. Brain. 2024 Oct 3. PMID: 38454550.
• Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study.Friligkou E, Løkhammer S, Cabrera-Mendoza B, Shen J, He J, Deiana G, Zanoaga MD, Asgel Z, Pilcher A, Di Lascio L, Makharashvili A, Koller D, Tylee DS, Pathak GA, Polimanti R. Nat Genet. 2024 Oct; 2024 Sep 18. PMID: 39294497.
• Association patterns of antisocial personality disorder across substance use disorders.Low A, Stiltner B, Nunez YZ, Adhikari K, Deak JD, Pietrzak RH, Kranzler HR, Gelernter J, Polimanti R. Transl Psychiatry. 2024 Aug 28; 2024 Aug 28. PMID: 39198385.
• Estimating the direct effects of the genetic liabilities to bipolar disorder, schizophrenia, and behavioral traits on suicide attempt using a multivariable Mendelian randomization approach.Cabrera-Mendoza B, Aydin N, Fries GR, Docherty AR, Walss-Bass C, Polimanti R. Neuropsychopharmacology. 2024 Aug; 2024 Feb 23. PMID: 38396255.
• Using Medical Records to Investigate the Genetics of Treatment-Resistant Depression Across Health Care Systems.Polimanti R. Am J Psychiatry. 2024 Jul 1. PMID: 38946279.
• Distinguishing vulnerability and resilience to posttraumatic stress disorder evaluating traumatic experiences, genetic risk and electronic health records.Løkhammer S, Koller D, Wendt FR, Choi KW, He J, Friligkou E, Overstreet C, Gelernter J, Hellard SL, Polimanti R. Psychiatry Res. 2024 Jul; 2024 May 8. PMID: 38744179.
• Pleiotropy and genetically inferred causality linking multisite chronic pain to substance use disorders.Koller D, Friligkou E, Stiltner B, Pathak GA, Løkhammer S, Levey DF, Zhou H, Hatoum AS, Deak JD, Kember RL, Treur JL, Kranzler HR, Johnson EC, Stein MB, Gelernter J, Polimanti R. Mol Psychiatry. 2024 Jul; 2024 Feb 15. PMID: 38355787.
• Unraveling COVID-19 relationship with anxiety disorders and symptoms using genome-wide data.Asgel Z, Kouakou MR, Koller D, Pathak GA, Cabrera-Mendoza B, Polimanti R. J Affect Disord. 2024 May 1; 2024 Feb 19. PMID: 38382819.
• The impact of assortative mating, participation bias and socioeconomic status on the polygenic risk of behavioural and psychiatric traits.Cabrera-Mendoza B, Wendt FR, Pathak GA, Yengo L, Polimanti R. Nat Hum Behav. 2024 May; 2024 Feb 16. PMID: 38366106.
• Brainwide Mendelian Randomization Study of Anxiety Disorders and Symptoms.Zanoaga MD, Friligkou E, He J, Pathak GA, Koller D, Cabrera-Mendoza B, Stein MB, Polimanti R. Biol Psychiatry. 2024 Apr 15; 2023 Nov 14. PMID: 37967698.
• Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.De Lillo A, Pathak GA, Low A, De Angelis F, Abou Alaiwi S, Miller EJ, Fuciarelli M, Polimanti R. Hum Genomics. 2024 Mar 25; 2024 Mar 25. PMID: 38523305.
• Genetic contribution to the comorbidity between attention-deficit/hyperactivity disorder and substance use disorders.Koller D, Mitjans M, Kouakou M, Friligkou E, Cabrera-Mendoza B, Deak JD, Llonga N, Pathak GA, Stiltner B, Løkhammer S, Levey DF, Zhou H, Hatoum AS, Kember RL, Kranzler HR, Stein MB, Corominas R, Demontis D, Artigas MS, Ramos-Quiroga JA, Gelernter J, Ribasés M, Cormand B, Polimanti R. Psychiatry Res. 2024 Mar; 2024 Feb 3. PMID: 38335780.
• A perspective on translating genomic discoveries into targets for brain-machine interface and deep brain stimulation devices.Valentim WL, Tylee DS, Polimanti R. WIREs Mech Dis. 2024 Mar-Apr; 2023 Dec 7. PMID: 38059513.
• Genetic Liability to Posttraumatic Stress Disorder Symptoms and Its Association With Cardiometabolic and Respiratory Outcomes.Pathak GA, Singh K, Choi KW, Fang Y, Kouakou MR, Lee YH, Zhou X, Fritsche LG, Wendt FR, Davis LK, Polimanti R. JAMA Psychiatry. 2024 Jan 1. PMID: 37910111.
• Polysubstance addiction patterns among 7,989 individuals with cocaine use disorder.Stiltner B, Pietrzak RH, Tylee DS, Nunez YZ, Adhikari K, Kranzler HR, Gelernter J, Polimanti R. iScience. 2023 Aug 18; 2023 Jul 16. PMID: 37554454.
• Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders.Koller D, Benítez-Burraco A, Polimanti R. Hum Genet. 2023 Aug; 2023 Mar 17. PMID: 36930228.
• Phenome-wide genetic-correlation analysis and genetically informed causal inference of amyotrophic lateral sclerosis.D'Antona S, Pathak GA, Koller D, Porro D, Cava C, Polimanti R. Hum Genet. 2023 Aug; 2023 Feb 11. PMID: 36773064.
• Characterizing the polygenic architecture of complex traits in populations of East Asian and European descent.De Lillo A, Wendt FR, Pathak GA, Polimanti R. Hum Genomics. 2023 Jul 20; 2023 Jul 20. PMID: 37475089.
• Modeling the longitudinal changes of ancestry diversity in the Million Veteran Program.Wendt FR, Pathak GA, Vahey J, Qin X, Koller D, Cabrera-Mendoza B, Haeny A, Harrington KM, Rajeevan N, Duong LM, Levey DF, De Angelis F, De Lillo A, Bigdeli TB, Pyarajan S, Gaziano JM, Gelernter J, Aslan M, Provenzale D, Helmer DA, Hauser ER, Polimanti R. Hum Genomics. 2023 Jun 2; 2023 Jun 2. PMID: 37268996.
• Sex differences in the polygenic architecture of hearing problems in adults.De Angelis F, Zeleznik OA, Wendt FR, Pathak GA, Tylee DS, De Lillo A, Koller D, Cabrera-Mendoza B, Clifford RE, Maihofer AX, Nievergelt CM, Curhan GC, Curhan SG, Polimanti R. Genome Med. 2023 May 11; 2023 May 11. PMID: 37165447.
• Sex-Specific Genetic and Transcriptomic Liability to Neuroticism.Wendt FR, Pathak GA, Singh K, Stein MB, Koenen KC, Krystal JH, Gelernter J, Davis LK, Polimanti R. Biol Psychiatry. 2023 Feb 1; 2022 Aug 5. PMID: 36244801.
• Epidemiologic and Genetic Associations of Endometriosis With Depression, Anxiety, and Eating Disorders.Koller D, Pathak GA, Wendt FR, Tylee DS, Levey DF, Overstreet C, Gelernter J, Taylor HS, Polimanti R. JAMA Netw Open. 2023 Jan 3; 2023 Jan 3. PMID: 36652249.
• Phenome-wide association study of loci harboring de novo tandem repeat mutations in UK Biobank exomes.Wendt FR, Pathak GA, Polimanti R. Nat Commun. 2022 Dec 12; 2022 Dec 12. PMID: 36509785.
• Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations.Koller D, Wendt FR, Pathak GA, De Lillo A, De Angelis F, Cabrera-Mendoza B, Tucci S, Polimanti R. BMC Biol. 2022 Nov 7; 2022 Nov 7. PMID: 36344982.
• The association of obesity-related traits on COVID-19 severity and hospitalization is affected by socio-economic status: a multivariable Mendelian randomization study.Cabrera-Mendoza B, Wendt FR, Pathak GA, De Angelis F, De Lillo A, Koller D, Polimanti R. Int J Epidemiol. 2022 Oct 13. PMID: 35751636.
• Not Only Gene Discovery: Genome-wide Association Studies and Polygenic Risk Scores as Tools to Dissect the Heterogeneity of Major Depressive Disorder.Polimanti R. Biol Psychiatry. 2022 Aug 1. PMID: 35835505.
• An Atlas of Genetic Correlations and Genetically Informed Associations Linking Psychiatric and Immune-Related Phenotypes.Tylee DS, Lee YK, Wendt FR, Pathak GA, Levey DF, De Angelis F, Gelernter J, Polimanti R. JAMA Psychiatry. 2022 Jul 1. PMID: 35507366.
• From Evolutionary History to the Concepts of Race and Ancestry: Shifting Our Perspective in Clinical Research.Haeny AM, Polimanti R. Biol Psychiatry. 2022 Jun 15; 2022 Apr 26. PMID: 35483984.
• The integration of genetically-regulated transcriptomics and electronic health records highlights a pattern of medical outcomes related to increased hepatic transthyretin expression.Pathak GA, De Lillo A, Wendt FR, De Angelis F, Koller D, Cabrera Mendoza B, Jacoby D, Miller EJ, Buxbaum JN, Polimanti R. Amyloid. 2022 Jun; 2021 Dec 22. PMID: 34935565.
• Using phenotype risk scores to enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder.Wendt FR, Pathak GA, Deak JD, De Angelis F, Koller D, Cabrera-Mendoza B, Lebovitch DS, Levey DF, Stein MB, Kranzler HR, Koenen KC, Gelernter J, Huckins LM, Polimanti R. Mol Psychiatry. 2022 Apr; 2022 Feb 18. PMID: 35181757.
• Polygenic scores for empathy associate with posttraumatic stress severity in response to certain traumatic events.Wendt FR, Warrier V, Pathak GA, Koenen KC, Stein MB, Krystal JH, Pietrzak RH, Gelernter J, Goldfarb EV, Baron-Cohen S, Polimanti R. Neurobiol Stress. 2022 Mar; 2022 Feb 21. PMID: 35242894.
• Genetically regulated multi-omics study for symptom clusters of posttraumatic stress disorder highlights pleiotropy with hematologic and cardio-metabolic traits.Pathak GA, Singh K, Wendt FR, Fleming TW, Overstreet C, Koller D, Tylee DS, De Angelis F, Cabrera Mendoza B, Levey DF, Koenen KC, Krystal JH, Pietrzak RH, O' Donell C, Gaziano JM, Falcone G, Stein MB, Gelernter J, Pasaniuc B, Mancuso N, Davis LK, Polimanti R. Mol Psychiatry. 2022 Mar; 2022 Mar 3. PMID: 35241783.
• Host Genetic Liability for Severe COVID-19 Associates with Alcohol Drinking Behavior and Diabetic Outcomes in Participants of European Descent.Wendt FR, De Lillo A, Pathak GA, De Angelis F, Polimanti R. Front Genet. 2021; 2021 Dec 13. PMID: 34966408.
• Drinking and smoking polygenic risk is associated with childhood and early-adulthood psychiatric and behavioral traits independently of substance use and psychiatric genetic risk.De Angelis F, Wendt FR, Pathak GA, Tylee DS, Goswami A, Gelernter J, Polimanti R. Transl Psychiatry. 2021 Nov 13; 2021 Nov 13. PMID: 34775470.
• Disentangling sex differences in the shared genetic architecture of posttraumatic stress disorder, traumatic experiences, and social support with body size and composition.Muniz Carvalho C, Wendt FR, Pathak GA, Maihofer AX, Stein DJ, Sumner JA, Hemmings SMJ, Nievergelt CM, Koenen KC, Gelernter J, Belangero SI, Polimanti R. Neurobiol Stress. 2021 Nov; 2021 Sep 17. PMID: 34611531.
• Genetics of substance use disorders in the era of big data.Gelernter J, Polimanti R. Nat Rev Genet. 2021 Nov; 2021 Jul 1. PMID: 34211176.
• Biobank Scale Pharmacogenomics Informs the Genetic Underpinnings of Simvastatin Use.Wendt FR, Koller D, Pathak GA, Jacoby D, Miller EJ, Polimanti R. Clin Pharmacol Ther. 2021 Sep; 2021 Apr 30. PMID: 33837531.
• ACE2 Netlas: In silico Functional Characterization and Drug-Gene Interactions of ACE2 Gene Network to Understand Its Potential Involvement in COVID-19 Susceptibility.Pathak GA, Wendt FR, Goswami A, Koller D, De Angelis F, Polimanti R. Front Genet. 2021; 2021 Aug 27. PMID: 34512723.
• Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank.De Lillo A, D'Antona S, Pathak GA, Wendt FR, De Angelis F, Fuciarelli M, Polimanti R. Hum Mol Genet. 2021 Jul 9. PMID: 33890984.
• Role of microbes in the pathogenesis of neuropsychiatric disorders.Goswami A, Wendt FR, Pathak GA, Tylee DS, De Angelis F, De Lillo A, Polimanti R. Front Neuroendocrinol. 2021 Jul; 2021 May 4. PMID: 33957173.
• Pleiotropic effects of telomere length loci with brain morphology and brain tissue expression.Pathak GA, Wendt FR, Levey DF, Mecca AP, van Dyck CH, Gelernter J, Polimanti R. Hum Mol Genet. 2021 Jun 26. PMID: 33831179.
• Sex-stratified gene-by-environment genome-wide interaction study of trauma, posttraumatic-stress, and suicidality.Wendt FR, Pathak GA, Levey DF, Nuñez YZ, Overstreet C, Tyrrell C, Adhikari K, De Angelis F, Tylee DS, Goswami A, Krystal JH, Abdallah CG, Stein MB, Kranzler HR, Gelernter J, Polimanti R. Neurobiol Stress. 2021 May; 2021 Feb 18. PMID: 33665242.
• Dissecting the genetic association of C-reactive protein with PTSD, traumatic events, and social support.Muniz Carvalho C, Wendt FR, Maihofer AX, Stein DJ, Stein MB, Sumner JA, Hemmings SMJ, Nievergelt CM, Koenen KC, Gelernter J, Belangero SI, Polimanti R. Neuropsychopharmacology. 2021 May; 2020 Mar 16. PMID: 32179874.
• Multivariate genome-wide analysis of education, socioeconomic status and brain phenome.Wendt FR, Pathak GA, Lencz T, Krystal JH, Gelernter J, Polimanti R. Nat Hum Behav. 2021 Apr; 2020 Dec 21. PMID: 33349686.
• Epigenomic Profiles of African-American Transthyretin Val122Ile Carriers Reveals Putatively Dysregulated Amyloid Mechanisms.Pathak GA, Wendt FR, De Lillo A, Nunez YZ, Goswami A, De Angelis F, Fuciarelli M, Kranzler HR, Gelernter J, Polimanti R. Circ Genom Precis Med. 2021 Feb; 2021 Jan 11. PMID: 33428857.
• Characterizing the effect of background selection on the polygenicity of brain-related traits.Wendt FR, Pathak GA, Overstreet C, Tylee DS, Gelernter J, Atkinson EG, Polimanti R. Genomics. 2021 Jan; 2020 Dec 2. PMID: 33278486.
• Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis.De Lillo A, Pathak GA, De Angelis F, Di Girolamo M, Luigetti M, Sabatelli M, Perfetto F, Frusconi S, Manfellotto D, Fuciarelli M, Polimanti R. Clin Epigenetics. 2020 Nov 17; 2020 Nov 17. PMID: 33203445.
• Introducing Complex Psychiatry.Gelernter J, Polimanti R. Complex Psychiatry. 2020 Oct; 2020 May 14. PMID: 34883505.
• Polygenic risk for autism spectrum disorder associates with anger recognition in a neurodevelopment-focused phenome-wide scan of unaffected youths from a population-based cohort.Wendt FR, Carvalho CM, Pathak GA, Gelernter J, Polimanti R. PLoS Genet. 2020 Sep; 2020 Sep 17. PMID: 32941431.
• Phenotypic and Molecular Characterization of Risk Loci Associated With Asthma and Lung Function.Karaca M, Atceken N, Karaca Ş, Civelek E, Şekerel BE, Polimanti R. Allergy Asthma Immunol Res. 2020 Sep. PMID: 32638561.
• Heterogeneity and Polygenicity in Psychiatric Disorders: A Genome-Wide Perspective.Wendt FR, Pathak GA, Tylee DS, Goswami A, Polimanti R. Chronic Stress (Thousand Oaks). 2020 Jan-Dec; 2020 May 18. PMID: 32518889.
• Investigating Causality Between Blood Metabolites and Emotional and Behavioral Responses to Traumatic Stress: a Mendelian Randomization Study.Carvalho CM, Wendt FR, Stein DJ, Stein MB, Gelernter J, Belangero SI, Polimanti R. Mol Neurobiol. 2020 Mar; 2019 Nov 30. PMID: 31786776.