Abe H, Liao C, Han L, Morley T, Talkowski ME, Brennand KJ, Ruderfer DM. Convergent coexpression reveals shared biological mechanisms underlying common and rare variant risk in six neuropsychiatric disorders. Mol Psychiatry. 2026 Aug;31(8):4787-4798. doi: 10.1038/s41380-026-03571-x. Epub 2026 Apr 7. PMID: 41946833; PMCID: PMC13364661.
Avery C, Babanejad M, Baker J, Bledsoe X, Blostein F, Corty RW, Ellis K, Hung AM, Lake A, Shelley J, Sheng Q; Vanderbilt University Medical Center and Alliance for Genomic Discovery Investigators; Aldrich M, Basford M, Bastarache L, Below J, Bick AG, Embi P, Feng Q, Gamazon E, Han L, Hirbo J, Marginean K, Mosley J, Pulley J, Roden DM, Ruderfer DM, Shuey M, Shyr Y, Stein CM, Walsh C, Wilkins C. Genome sequencing of 35,024 predominantly African ancestry persons addresses gaps in genomics and healthcare. medRxiv [Preprint]. 2025 Nov 2:2025.10.30.25338549. doi: 10.1101/2025.10.30.25338549. PMID: 41282679; PMCID: PMC12636650.
Bastarache L, Tinker RJ, Schuler BA, Richter L, Phillips JA 3rd, Stead WW, Hooker GW, Peterson JF, Ruderfer DM. Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades. Am J Hum Genet. 2025 May 1;112(5):1029-1038. doi: 10.1016/j.ajhg.2025.03.009. Epub 2025 Apr 17. PMID: 40245861; PMCID: PMC12120179.
Tubbs C, Benton ML, McArthur E, Capra JA, Ruderfer DM. Identifying deleterious noncoding variation through gain and loss of CTCF binding activity. Am J Hum Genet. 2025 Apr 3;112(4):892-902. doi: 10.1016/j.ajhg.2025.02.009. Epub 2025 Mar 5. PMID: 40049170; PMCID: PMC12081274.
Morley TJ, Willimitis D, Ripperger M, Lee H, Zhou Y, Han L, Kang J, Meyerson WU, Smoller JW, Choi KW, Walsh CG, Ruderfer DM. Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models. Genet Med. 2025 Apr;27(4):101353. doi: 10.1016/j.gim.2024.101353. Epub 2024 Dec 26. PMID: 39733260; PMCID: PMC13183356.
Kang J, Castro VM, Ripperger M, Venkatesh S, Burstein D, Linnér RK, Rocha DB, Hu Y, Wilimitis D, Morley T, Han L, Kim RY, Feng YA, Ge T, Heckers S, Voloudakis G, Chabris C, Roussos P, McCoy TH, Walsh CG, Perlis RH, Ruderfer DM. Genome-Wide Association Study of Treatment-Resistant Depression: Shared Biology With Metabolic Traits. Am J Psychiatry. 2024 Jul 1;181(7):608-619. doi: 10.1176/appi.ajp.20230247. Epub 2024 May 15. PMID: 38745458; PMCID: PMC11905962.
Brittain EL, Han L, Annis J, Master H, Hughes A, Roden DM, Harris PA, Ruderfer DM. Physical Activity and Incident Obesity Across the Spectrum of Genetic Risk for Obesity. JAMA Netw Open. 2024 Mar 4;7(3):e243821. doi: 10.1001/jamanetworkopen.2024.3821. PMID: 38536175; PMCID: PMC10973894.
Calwing Liao, Mariana Moyses-Oliveira, Celine EF De Esch, Riya Bhavsar, Xander Nuttle, Aiqun Li, Alex Yu, Nicholas D. Burt, Serkan Erdin, Jack M. Fu, Minghui Wang, Theodore Morley, Lide Han, CommonMind Consortium, Patrick A. Dion, Guy A. Rouleau, Bin Zhang, Kristen J. Brennand, Michael E. Talkowski, Douglas M. Ruderfer. Transcriptional patterns of coexpression across autism risk genes converge on established and novel signatures of neurodevelopment. medRxiv 2022.02.28.22271620; doi: https://doi.org/10.1101/2022.02.28.22271620
Richter LD, Morley TJ, Hooker GW, Peay HL, Cox NJ, Ruderfer DM. Leveraging electronic health records to inform genetic counseling practice surrounding psychiatric disorders. J Genet Couns. 2022 Feb 21. doi: 10.1002/jgc4.1565. Epub ahead of print. PMID: 35191121.
Mullins N, Kang J, Campos AI, Coleman JRI, Edwards AC, Galfalvy H, Levey DF, Lori A, Shabalin A, Starnawska A, Su Met al. Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors. Biol Psychiatry. 2022 Feb 1;91(3):313-327. doi: 10.1016/j.biopsych.2021.05.029. Epub 2021 Sep 9. PMID: 34861974; PMCID: PMC8851871.
Morley TJ, Han L, Castro VM, Morra J, Perlis RH, Cox NJ, Bastarache L, Ruderfer DM. Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing. Nat Med. 2021 Jun;27(6):1097-1104. doi: 10.1038/s41591-021-01356-z. Epub 2021 Jun 3. PMID: 34083811; PMCID: PMC8981189.
Lide Han, Xuefang Zhao, Mary Lauren Benton, Thaneer Perumal, Ryan L. Collins, Gabriel E. Hoffman, Jessica S. Johnson, Laura Sloofman, Harold Z. Wang, CommonMind Consortium, Kristen J. Brennand, Harrison Brand, Solveig K. Sieberts, Stefano Marenco, Mette A. Peters, Barbara K. Lipska, Panos Roussos, John A. Capra, Michael Talkowski, Douglas M. Ruderfer. Functional annotation of rare structural variation in the human brain. Nat Commun. 2020;11(1):2990. Published 2020 Jun 12. doi:10.1038/s41467-020-16736-1
Kang J, Ruderfer DM. Expanding cultural and ancestral representation in psychiatric genetic studies [published online ahead of print, 2020 Apr 15]. Neuropsychopharmacology. 2020;10.1038/s41386-020-0676-1. doi:10.1038/s41386-020-0676-1
Szatkiewicz JP, Fromer M, Nonneman RJ, et al. Characterization of Single Gene Copy Number Variants in Schizophrenia. Biol Psychiatry. 2020;87(8):736-744. doi:10.1016/j.biopsych.2019.09.023
Douglas M. Ruderfer, Colin G. Walsh, Matthew W. Aguirre, Yosuke Tanigawa, Jessica D. Ribeiro, Joseph C. Franklin & Manuel A. Rivas. Significant shared heritability underlies suicide attempt and clinically predicted probability of attempting suicide. Mol Psychiatry. 2019 Jan 4. doi: 10.1038/s41380-018-0326-8.
Charney AW, Stahl EA, Green EK, Chen CY, Moran JL, Chambert K, Belliveau RA Jr, Forty L, Gordon-Smith K, Lee PH, Bromet EJ, Buckley PF, Escamilla MA, Fanous AH, Fochtmann LJ, Lehrer DS, Malaspina D, Marder SR, Morley CP, Nicolini H, Perkins DO, Rakofsky JJ, Rapaport MH, Medeiros H, Sobell JL, Backlund L, Bergen SE, Juréus A, Schalling M, Lichtenstein P, Knowles JA, Burdick KE, Jones I, Jones LA, Hultman CM, Perlis R, Purcell SM, McCarroll SA, Pato CN, Pato MT, Di Florio A, Craddock N, Landén M, Smoller JW, Ruderfer DM, Sklar P. Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases. Biol Psychiatry. 2018 Dec 20. pii: S0006-3223(18)32087-0. doi: 10.1016/j.biopsych.2018.12.009.
Ruderfer et al. Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes. Cell 173 (7), 1705-1715. e16 Genovese G, Fromer M, Stahl EA, Ruderfer DM, Chambert K, Landén M, Moran JL, Purcell SM, Sklar P, Sullivan PF, Hultman CM, McCarroll SA. Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. Nat Neurosci. 2016 Nov;19(11):1433-1441. doi: 10.1038/nn.4402. Epub 2016 Oct 3
Fromer M, Roussos P, Sieberts SK, Johnson JS, Kavanagh DH, Perumal TM, Ruderfer DM, Oh EC, Topol A, Shah HR, Klei LL, Kramer R, Pinto D, Gümüş ZH, Cicek AE, Dang KK, Browne A, Lu C, Xie L, Readhead B, Stahl EA, Xiao J, Parvizi M, Hamamsy T, Fullard JF, Wang YC, Mahajan MC, Derry JM, Dudley JT, Hemby SE, Logsdon BA, Talbot K, Raj T, Bennett DA, De Jager PL, Zhu J, Zhang B, Sullivan PF, Chess A, Purcell SM, Shinobu LA, Mangravite LM, Toyoshiba H, Gur RE, Hahn CG, Lewis DA, Haroutunian V, Peters MA, Lipska BK, Buxbaum JD, Schadt EE, Hirai K, Roeder K, Brennand KJ, Katsanis N, Domenici E, Devlin B, Sklar P. Gene expression elucidates functional impact of polygenic risk for schizophrenia. Nat Neurosci. 2016 Nov;19(11):1442-1453. doi: 10.1038/nn.4399. Epub 2016 Sep 26.
Ruderfer DM, Hamamsy T, Lek M, Karczewski KJ, Kavanaugh, D, Samocha K, Exome Aggregation Consortium, Daly MJ, MacArthur DG, Fromer M, Purcell SM. Patterns of genic intolerance of rare copy number variations in 59,898 human exomes. Nat Genet. 2016 Aug 17. doi: 10.1038/ng.3638.
Lek M et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 Aug 17;536(7616):285-91. doi: 10.1038/nature19057.
Ruderfer DM, Dudley JT. Deep phenotyping predicts Huntington’s genotype. Nat Biotechnol. 2016 Aug 9;34(8):823-4. doi: 10.1038/nbt.3648.
Topol A, Zhu S, Hartley BJ, English J, Hauberg ME, Tran N, Rittenhouse CA, Simone A, Ruderfer DM, Johnson J, Readhead B, Hadas Y, Gochman PA, Wang YC, Shah H, Cagney G, Rapoport J, Gage FH, Dudley JT, Sklar P, Mattheisen M, Cotter D, Fang G, Brennand KJ. Dysregulation of miRNA-9 in a Subset of Schizophrenia Patient-Derived Neural Progenitor Cells. Cell Rep. 2016 May 3;15(5):1024-36. doi: 10.1016/j.celrep.2016.03.090. Epub 2016 Apr 21.
Ruderfer DM, Charney AW, Readhead B, Kidd BA, Kahler AK, Kenny PJ, Keiser MJ, Moran JL, Hultman CM, Scott SA, Sullivan PF, Purcell SM, Dudley JT, Sklar P. Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach. Lancet Psychiatry. 2016 Feb 22. pii: S2215-0366(15)00553-2. doi: 10.1016/S2215-0366(15)00553-2.
Full publication list
