Some Lab Publications


Bakian AV et al. A population-wide analysis of the familial risk of suicide in Utah, USA. Psychol Med., In Press (2021).

Cicero DC et al. Development of the thought disorder measure for the Hierarchical Taxonomy of Psychopathology. Assessment, In Press (2021).

Cohen AS et al. Predictive accuracy of negative schizotypy with acoustic measures. Clinical Psychological Science, In Press (2021).

den Hoed J, et al. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. Am J Hum Genet. 2021 Feb 4;108(2):346-356. doi: 10.1016/j.ajhg.2021.01.007.

DiBlasi E et al. Genetic contributions to suicidal thoughts and behaviors. Psychol Med., In Press (2021).

DiBlasi E et al. Rare protein coding variants implicate genes involved in risk of suicide death. Am J Med Genet B Neuropsychiatr Genet, In Press (2021).

Docherty AR et al. Ethical concerns relating to genetic risk scores for suicide. Am J Med Genet B Neuropsychiatr Genet., In Press (2021).

Docherty AR et al. Suicide and psychosis: Results from a population-based cohort of suicide death (N = 4,380). Schizophrenia Bulletin, In Press (2021).

Johnson E et al. Associations Between Suicidal Thoughts and Behaviors and Genetic Liability for Cognitive Performance, Depression, and Risk-taking in a High-risk Sample. Complex Psychiatry, In Press (2021).

Kim H et al. Internalizing psychopathology and all-cause mortality: a comparison of transdiagnostic vs. diagnosis-based risk prediction. World Psychiatry. 2021;20(2):276-282.

McGuire D, et al. Model-based assessment of replicability for genome-wide association meta-analysis. Nat Commun. 2021 Mar 30;12(1):1964. doi: 10.1038/s41467-021-21226-z. PMID: 33785739; PMCID: PMC8009871.

Monson E et al. Assessment of Suicide Attempt and Death in Bipolar Affective Disorder: A Combined Clinical and Genetic Approach. Transl Psychiatry, In Press (2021).

Mullins N et al. Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders and known risk factors. Biol Psychiatry, In Press (2021).

Waszczuk MA et al. General vs. Specific Vulnerabilities: Polygenic Risk Scores and Higher-Order Psychopathology Dimensions in the Adolescent Brain Cognitive Development (ABCD) Study. Psychol Med., In Press (2021).

William N, et al. Neurexin 1 variants as risk factors for suicide death. Mol Psychiatry. 2021 Jun 25. doi: 10.1038/s41380-021-01190-2.


Aberg KA, et al. Methylome-wide association findings for major depressive disorder overlap in blood and brain and replicate in independent brain samples. Mol Psychiatry. 2020 Jun;25(6):1344-1354. doi: 10.1038/s41380-018-0247-6.

Chan RF, et al. Cell Type-Specific Methylome-wide Association Studies Implicate Neurotrophin and Innate Immune Signaling in Major Depressive Disorder. Biol Psychiatry. 2020 Mar 1;87(5):431-442. doi: 10.1016/j.biopsych.2019.10.014.

Chan RF, et al. Independent Methylome-Wide Association Studies of Schizophrenia Detect Consistent Case-Control Differences. Schizophr Bull. 2020 Feb 26;46(2):319-327. doi: 10.1093/schbul/sbz056.

Chatzinakos C, et al. TWAS pathway method greatly enhances the number of leads for uncovering the molecular underpinnings of psychiatric disorders. Am J Med Genet B Neuropsychiatr Genet. 2020 Dec;183(8):454-463. doi: 10.1002/ajmg.b.32823.

Clark SL, et al. A methylation study of long-term depression risk. Mol Psychiatry. 2020 Jun;25(6):1334-1343. doi: 10.1038/s41380-019-0516-z.

Coleman JR, et al. Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank. Molecular Psychiatry, In Press (2020).

DiBlasi E, et al. Brief Report: Genetic Links Between Autism and Suicidal Behavior-A Preliminary Investigation. J Autism Dev Disord. 2020 Oct;50(10):3525-3530. doi: 10.1007/s10803-020-04419-1.

Docherty AR, et al. Genome-Wide Association Study of Suicide Death and Polygenic Prediction of Clinical Antecedents. Am J Psychiatry. 2020 Oct 1;177(10):917-927. doi: 10.1176/appi.ajp.2020.19101025.

Docherty AR, et al. Molecular Genetic Risk for Psychosis Is Associated With Psychosis Risk Symptoms in a Population-Based UK Cohort: Findings From Generation Scotland. Schizophr Bull. 2020 Mar 27;46(5):1045–52. doi: 10.1093/schbul/sbaa042.

Guintivano J, et al. Test-statistic inflation in methylome-wide association studies. Epigenetics. 2020 Nov;15(11):1163-1166. doi: 10.1080/15592294.2020.1758382.

Johnson EC, et al. A large-scale genome-wide association study meta-analysis of cannabis use disorder. Lancet Psychiatry. 2020 Dec;7(12):1032-1045. doi: 10.1016/S2215-0366(20)30339-4.

Kious B, et al. Ethical and public health implications of genetic testing for suicide risk: family and survivor perspectives. Genet Med. 2021 Feb;23(2):289-297. doi: 10.1038/s41436-020-00982-1.

Latzman R et al. Using empirically-derived dimensional phenotypes to accelerate clinical neuroscience: The Hierarchical Taxonomy of Psychopathology (HiTOP) framework. Neuropsychopharmacology, In Press (2020).

Lin BD, et al. The role of rare compound heterozygous events in autism spectrum disorder. Transl Psychiatry. 2020 Jun 22;10(1):204. doi: 10.1038/s41398-020-00866-7.

Munn-Chernoff MA, et al. Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies. Addict Biol. 2021 Jan;26(1):e12880. doi: 10.1111/adb.12880.

Perkins, al. Neurobiology and the Hierarchical Taxonomy of Psychopathology: progress toward ontogenetically informed and clinically useful nosology
. Dialogues Clin Neurosci. 2020 Mar;22(1):51-63. doi: 10.31887/DCNS.2020.22.1/eperkins.

Satterstrom FK, et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020 Feb 6;180(3):568-584.e23. doi: 10.1016/j.cell.2019.12.036.

Waszczuk MA, et al. Polygenic prediction of PTSD trajectories in 9/11 responders. Psychol Med. 2020 Oct 23:1-9. doi: 10.1017/S0033291720003839.


Anderson, J.S, et al. Polygenic risk scoring and prediction of mental health outcomes. Curr Opin Psychol 27, 77-81 (2019). doi:10.1016/j.copsyc.2018.09.002

Bilder, D.A. et al. Early Second Trimester Maternal Serum Steroid-Related Biomarkers Associated with Autism Spectrum Disorder. J Autism Dev Disord 49, 4572-4583 (2019). doi:10.1007/s10803-019-04162-2

Chan, R.F. et al. Independent Methylome-Wide Association Studies of Schizophrenia Detect Consistent Case-Control Differences. Schizophr Bull (2019). doi:10.1093/schbul/sbz056

Clark, S.L. et al. A methylation study of long-term depression risk. Mol Psychiatry (2019). doi:10.1038/s41380-019-0516-z

Conway, C.C. et al. A Hierarchical Taxonomy of Psychopathology Can Transform Mental Health Research. Perspect Psychol Sci 14, 419-436 (2019). doi:10.1177/1745691618810696

Cross Disorder Working Group of the Psychiatric Genomics Consortium. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell. 2019 Dec 12;179(7):1469-1482.e11. doi: 10.1016/j.cell.2019.11.020.

Das, S.C. et al. DiI-mediated analysis of presynaptic and postsynaptic structures in human postmortem brain tissue. J Comp Neurol 527, 3087-3098 (2019). doi:10.1002/cne.24722

Docherty AR, et al. Pathway-based polygene risk for severe depression implicates drug metabolism in CONVERGE. Psychol Med. 2019:1-6.

Docherty, A.R. et al. Pathway-based polygene risk for severe depression implicates drug metabolism in CONVERGE. Psychol Med, 1-6 (2019). doi:10.1017/s0033291719000618

Eyler, L.T. et al. Resting State Abnormalities of the Default Mode Network in Mild Cognitive Impairment: A Systematic Review and Meta-Analysis. J Alzheimers Dis 70, 107-120 (2019). doi:10.3233/jad-180847

Greene, A.L. et al. Are fit indices used to test psychopathology structure biased? A simulation study. J Abnorm Psychol. 2019 Oct;128(7):740-764. doi:10.1037/abn0000434

Hopwood, C.J. et al. Commentary on “The Challenge of Transforming the Diagnostic System of Personality Disorders”. J Pers Disord, 1-4 (2019). doi:10.1521/pedi_2019_33_00

Kirby AV, et al. A 20-year study of suicide death in a statewide autism population. Autism Res. 2019 Apr;12(4):658-666. doi: 10.1002/aur.2076.

Kirby, A.V. et al. A 20-year study of suicide death in a statewide autism population. Autism Res 12, 658-666 (2019). doi:10.1002/aur.2076

Lazaro-Munoz, G. et al. International Society of Psychiatric Genetics Ethics Committee: Issues facing us. Am J Med Genet B Neuropsychiatr Genet. 2019 Dec;180(8):543-554.  doi:10.1002/ajmg.b.32736

Li, Z. et al. Inheritance of Neural Substrates for Motivation and Pleasure. Psychol Sci 30, 1205-1217 (2019). doi:10.1177/0956797619859340

Liu, M. et al. Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. Nat Genet 51, 237-244 (2019). doi:10.1038/s41588-018-0307-5

Nobre, C, et al. Lineage: Visualizing Multivariate Clinical Data in Genealogy Graphs. IEEE Trans Vis Comput Graph 25, 1543-1558 (2019). doi:10.1109/tvcg.2018.2811488

Ruggero CJ, et al. Integrating the Hierarchical Taxonomy of Psychopathology (HiTOP) into clinical practice. J Consult Clin Psychol. 2019;87(12):1069-1084.

Ruggero, C.J. et al. Integrating the Hierarchical Taxonomy of Psychopathology (HiTOP) into clinical practice. J Consult Clin Psychol. 2019 Dec; 87(12):1069-1084. doi:10.1037/ccp0000452

Shade, J, et al. Ethical implications of using biobanks and population databases for genetic suicide research. Am J Med Genet B Neuropsychiatr Genet 180, 601-608 (2019). doi:10.1002/ajmg.b.32718

Soda et al. International Consortium on the Genetics of Electroconvulsive Therapy and Severe Depressive Disorders (Gen-ECT-ic). Eur Arch Psychiatry Clin Neurosci. 2020 Oct;270(7):921-932. doi: 10.1007/s00406-019-01087-w.

Waszczuk MA, et al. Redefining phenotypes to advance psychiatric genetics: Implications from hierarchical taxonomy of psychopathology. J Abnorm Psychol. 2020 Feb;129(2):143-161. doi: 10.1037/abn0000486.

Widiger, T.A. et al. Criterion A of the AMPD in HiTOP. J Pers Assess 101, 345-355 (2019). doi:10.1080/00223891.2018.1465431


Aberg, K.A, et al. Methyl-CpG-Binding Domain Sequencing: MBD-seq. Methods Mol Biol 1708, 171-189 (2018). doi:10.1007/978-1-4939-7481-8_10

Aberg, K.A. et al. Convergence of evidence from a methylome-wide CpG-SNP association study and GWAS of major depressive disorder. Transl Psychiatry 8, 162 (2018). doi:10.1038/s41398-018-0205-8

Aberg, K.A. et al. Methylome-wide association findings for major depressive disorder overlap in blood and brain and replicate in independent brain samples. Mol Psychiatry (2018). doi:10.1038/s41380-018-0247-6

An, J.Y. et al. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science 362(2018). doi:10.1126/science.aat6576

Clark, S.L. et al. A Whole Methylome Study of Ethanol Exposure in Brain and Blood: An Exploration of the Utility of Peripheral Blood as Proxy Tissue for Brain in Alcohol Methylation Studies. Alcohol Clin Exp Res 42, 2360-2368 (2018). doi:10.1111/acer.13905

Coon, H. et al. Genome-wide significant regions in 43 Utah high-risk families implicate multiple genes involved in risk for completed suicide. Mol Psychiatry (2018). doi:10.1038/s41380-018-0282-3

Docherty, A.R. et al. Enhancing Psychosis-Spectrum Nosology Through an International Data Sharing Initiative. Schizophr Bull 44, S460-s467 (2018). doi:10.1093/schbul/sby059

Docherty, A.R. et al. Polygenic prediction of the phenome, across ancestry, in emerging adulthood. Psychol Med 48, 1814-1823 (2018). doi:10.1017/s0033291717003312

Farley, M. et al. Mid-life social outcomes for a population-based sample of adults with ASD. Autism Res 11, 142-152 (2018). doi:10.1002/aur.1897

Han, L.K.M. et al. Epigenetic Aging in Major Depressive Disorder. Am J Psychiatry 175, 774-782 (2018). doi:10.1176/appi.ajp.2018.17060595

Hopwood, C.J. et al. The time has come for dimensional personality disorder diagnosis. Personal Ment Health 12, 82-86 (2018). doi:10.1002/pmh.1408

Keeshin, B.R, et al. Youth Suicide Deaths: Investigation of Clinical Predictors in a Statewide Sample. Suicide Life Threat Behav 48, 601-612 (2018). doi:10.1111/sltb.12386

Krueger, R.F. et al. Progress in achieving quantitative classification of psychopathology. World Psychiatry 17, 282-293 (2018). doi:10.1002/wps.20566

Li, G, et al. An empirical Bayes approach for multiple tissue eQTL analysis. Biostatistics 19, 391-406 (2018). doi:10.1093/biostatistics/kxx048

Lin, C.Y. et al. Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes. Sci Rep 8, 4277 (2018). doi:10.1038/s41598-018-22753-4

Moore, A.A, et al. Opportunities for an enhanced integration of neuroscience and genomics. Brain Imaging Behav 12, 1211-1219 (2018). doi:10.1007/s11682-017-9780-1

Palowitch, J, et al. Estimation of cis-eQTL effect sizes using a log of linear model. Biometrics 74, 616-625 (2018). doi:10.1111/biom.12810

Shabalin, A.A. et al. RaMWAS: fast methylome-wide association study pipeline for enrichment platforms. Bioinformatics 34, 2283-2285 (2018). doi:10.1093/bioinformatics/bty069

Waller, R.G. et al. Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk. PLoS Genet 14, e1007111 (2018). doi:10.1371/journal.pgen.1007111

Walters, R.K. et al. Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders. Nat Neurosci 21, 1656-1669 (2018). doi:10.1038/s41593-018-0275-1

Xia, H. et al. Building a schizophrenia genetic network: transcription factor 4 regulates genes involved in neuronal development and schizophrenia risk. Hum Mol Genet 27, 3246-3256 (2018). doi:10.1093/hmg/ddy222

Zhou, H.Y. et al. Suspiciousness in young minds: Convergent evidence from non-clinical, clinical and community twin samples. Schizophr Res 199, 135-141 (2018). doi:10.1016/j.schres.2018.03.027


Aberg, K.A. et al. A MBD-seq protocol for large-scale methylome-wide studies with (very) low amounts of DNA. Epigenetics 12, 743-750 (2017). doi:10.1080/15592294.2017.1335849

Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium. Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Mol Autism 8, 21 (2017). doi:10.1186/s13229-017-0137-9

Battle, A. et al. Genetic effects on gene expression across human tissues. Nature 550, 204-213 (2017). doi:10.1038/nature24277

Chan, R.F. et al. Enrichment methods provide a feasible approach to comprehensive and adequately powered investigations of the brain methylome. Nucleic Acids Res 45, e97 (2017). doi:10.1093/nar/gkx143

Christensen, E.D. et al. Sudden infant death “syndrome”-Insights and future directions from a Utah population database analysis. Am J Med Genet A 173, 177-182 (2017). doi:10.1002/ajmg.a.37994

Clark, S.L. et al. Deep Sequencing of 71 Candidate Genes to Characterize Variation Associated with Alcohol Dependence. Alcohol Clin Exp Res 41, 711-718 (2017). doi:10.1111/acer.13352

Docherty, A.R. et al. Age of onset and family history as indicators of polygenic risk for major depression. Depress Anxiety 34, 446-452 (2017). doi:10.1002/da.22607

Docherty, A.R. Leveraging psychiatric and medical genetics to understand comorbid depression and obesity. in Br J Psychiatry, Vol. 211 61-62 (2017). doi:10.1192/bjp.bp.116.194662

Figueroa, K.P. et al. Genetic analysis of age at onset variation in spinocerebellar ataxia type 2. Neurol Genet 3, e155 (2017). doi:10.1212/nxg.0000000000000155

Hattab, M.W. et al. Correcting for cell-type effects in DNA methylation studies: reference-based method outperforms latent variable approaches in empirical studies. Genome Biol 18, 24 (2017). doi:10.1186/s13059-017-1148-8

Li, X. et al. The impact of rare variation on gene expression across tissues. Nature 550, 239-243 (2017). doi:10.1038/nature24267

Lim, E.T. et al. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci 20, 1217-1224 (2017). doi:10.1038/nn.4598

Merrill, A.M. et al. Evidence that communication impairment in schizophrenia is associated with generalized poor task performance. Psychiatry Res 249, 172-179 (2017). doi:10.1016/j.psychres.2016.12.051

Saha, A. et al. Co-expression networks reveal the tissue-specific regulation of transcription and splicing. Genome Res 27, 1843-1858 (2017). doi:10.1101/gr.216721.116

Tan, M.H. et al. Dynamic landscape and regulation of RNA editing in mammals. Nature 550, 249-254 (2017). doi:10.1038/nature24041

Tukiainen T et al. Landscape of X chromosome inactivation across human tissues. Nature 550, 244-248 (2017). doi:10.1038/nature24265

Weiner DJ et al. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nat Genet 49, 978-985 (2017). doi:10.1038/ng.3863

Yang F, et al. Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis. Genome Res 27, 1859-1871 (2017). doi:10.1101/gr.216754.116


Docherty AR, et al. Cross-Disorder Psychiatric Genomics. Curr Behav Neurosci Rep 3, 256-263 (2016). doi:10.1007/s40473-016-0084-3

Docherty AR, et al. SNP-based heritability estimates of the personality dimensions and polygenic prediction of both neuroticism and major depression: findings from CONVERGE. Transl Psychiatry 6, e926 (2016). doi: 10.1038/tp.2016.177

Docherty AR. Genomic Approaches to Phenotype Prediction. in JAMA Psychiatry, Vol. 73 536 (2016). doi:10.1001/jamapsychiatry.2016.0031

Edwards AC, et al. Chronicity of Depression and Molecular Markers in a Large Sample of Han Chinese Women. Depress Anxiety 33, 1048-1054 (2016). doi:10.1002/da.22517