Author
Jordan W. Smoller
Broad InstituteORCID 0000-0002-0381-6334Unclaimed ORCID profile · follow to get notified of new preprints
Biology Disciplines
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2016-2026 · peak 12/yrCo-Author Collaboration Network
10 top collaborators · 39 mutual co-author links73 papers
Recent·Most cited
- Genetic & Genomic MedicinemedRxivPreprintDOI 10.64898/2026.09.30.26364416
- GenomicsbioRxivPreprint
Mapping the genetic architecture of human cortical expansion and its links to neuropsychiatric disorders
Matthew Rosenblatt, Marlee M. Vandewouw, Henry Fox-Jurkowitz…·Travis T. Mallard
The paper models the genetic architecture of cortical expansion using GWAS data and links it to neuropsychiatric disorders.
DOI 10.64898/2026.06.22.733725 - Genetic & Genomic MedicinemedRxivPreprint
Multi-ancestry genome-wide association study and meta-analysis of stimulant use disorder reveals biology and relationships to other psychiatric disorders
S L Beck, Joseph D. Deak, Daniel F. Levey…·Joel E. Gelernter
This paper conducts a multi-ancestry GWAS of stimulant use disorder, identifies 19 genome-wide significant loci, and finds genetic correlations with other psychiatric and substance use disorders.
DOI 10.64898/2026.06.05.26354997 - Genetic & Genomic MedicinemedRxivPreprint
Systematic common and rare variant association testing in 392,030 whole genomes in All of Us
Wenhan Lu, Robert J. Carroll, Matthew Solomonson…·Konrad J. Karczewski
The paper performs large-scale GWAS and RVAS on 392,030 whole genomes from All of Us, identifying 49,863 associations and 193 novel pLoF gene-phenotype links through meta-analysis with UK Biobank.
4 citations - Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
Putting Polygenic Scores in Context: How Intersectional Factors Affect Relative and Absolute Genetic Risk
Mihael Cudic, Justin D. Tubbs, Tian Ge, Jordan W. Smoller
The paper examines how intersectional sociodemographic factors affect genetic risk estimates from polygenic scores across multiple diseases.
DOI 10.1016/j.ajhg.2026.03.013 - Genetic & Genomic MedicinemedRxivPreprint
Genomic insights into substance use and disinhibitory disorders
Camille Michèle Williams, Holly E. Poore, Diego Londoño-Correa…·Travis T. Mallard
This study identifies 1,294 genomic regions and 961 effector genes associated with externalizing disorders, revealing neural mechanisms and polygenic predictors of variance in these conditions.
- Genetic & Genomic MedicinemedRxivPreprint
Genetic Architecture of Alcohol Use Disorder in Nepal
Justin D. Tubbs, Yixuan He, Kristin Tsuo…·William G. Axinn
This study conducts the first comprehensive genetic analysis of alcohol use disorder in a Nepalese population, identifying a novel genome-wide significant locus and highlighting the need for replication and improved polygenic prediction.
DOI 10.64898/2025.12.13.25342207 - Genetic & Genomic MedicinePatternsPeer-reviewed
A One-Shot Lossless Algorithm for Cross-Cohort Learning in Mixed-Outcomes Analysis
Ruowang Li, Luke Benz, Rui Duan…·Yong Chen
This paper introduces mixWAS, a one-shot, lossless algorithm for integrating distributed EHR datasets to identify cross-cohort genetic associations across multiple outcomes.
- Genetic & Genomic MedicinemedRxivPreprint
Transdiagnostic Polygenic Risk Models for Psychopathology and Comorbidity: Cross-Ancestry Analysis in the All of Us Research Program
Phil Hyoun Lee, Jae-Yoon Jung, Brandon T. Sanzo…·Andrew David Grotzinger
This study evaluates transdiagnostic polygenic risk scores for psychiatric disorders using the All of Us Research Program data, finding that a common psychiatric genetic factor PRS better predicts comorbidity burden than single-disorder scores.
2 citations - Genetic & Genomic MedicineNature GeneticsPeer-reviewed
Comparison of the Multivariate Genetic Architecture of Eight Major Psychiatric Disorders Across Sex
Ted Schwaba, Travis T. Mallard, Adam X. Maihofer…·Elliot M. Tucker–Drob
The paper compares the multivariate genetic architecture of eight psychiatric disorders between males and females using Genomic Structural Invariance, finding similarities and sex-specific differences in genetic factor loadings.
16 citationstop 2% - Genetic & Genomic MedicinemedRxivPreprint
Molecular genetic influences on attentional control and other executive processes and their links with psychopathology in the AFFECT study
Justin D. Tubbs, Travis T. Mallard, Maria Dalby…·Joshua W. Buckholtz
This study identifies two distinct genetic factors influencing executive function and attentional control, showing unique links to psychiatric disorders and cognitive phenotypes.
DOI 10.1101/2025.02.14.25322257 - Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Instability of high polygenic risk classification and mitigation by integrative scoring
Anika Misra, Buu Minh Thanh Truong, Sarah Urbut…·Pradeep Natarajan
The paper evaluates the instability of polygenic risk scores (PRS) across different publications and introduces an integrative scoring framework to improve classification consistency.
24 citationstop 1% - Genetic & Genomic MedicinemedRxivPreprint
The Landscape of Shared and Divergent Genetic Influences across 14 Psychiatric Disorders
Andrew David Grotzinger, Josefin Werme, Wouter J. Peyrot…·Jordan W. Smoller
The paper identifies five genomic factors explaining most genetic variance across 14 psychiatric disorders and finds shared and disorder-specific genetic signals with distinct biological functions.
15 citations - Genetic & Genomic MedicinemedRxivPreprint
Unsupervised Ensemble Learning for Efficient Integration of Pre-trained Polygenic Risk Scores
Chenyin Gao, Justin D. Tubbs, Yi Han…·Rui Duan
This paper introduces UNSemblePRS, an unsupervised ensemble method for integrating pre-trained polygenic risk scores without phenotype data, showing robust performance across diverse populations.
- Genetic & Genomic MedicineGenetics in MedicinePeer-reviewed
Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models
Theodore J. Morley, Drew Wilimitis, Michael A. Ripperger…·Douglas M. Ruderfer
This study evaluates how different modeling choices affect the performance of clinical risk prediction models integrating genetic and clinical data, finding that PRS inclusion benefits vary by integration method and data type.
- NeurosciencebioRxivPreprint
The restricted N-glycome of neurons is programmed during differentiation
Katherine Kiwimagi, Maxence Noël, Murat Çetinbaş…·Robert G. Mealer
The paper investigates the N-glycome changes during neuronal differentiation and finds that brain-specific N-glycans like Man-5 are programmed independently of the transcriptome.
2 citations - Genetic & Genomic MedicinemedRxivPreprint
Aladynoulli: A Bayesian approach to disease progression modeling for genomic discovery and clinical prediction
Sarah Urbut, Yi Ding, Tetsushi Nakao…·Giovanni Parmigiani
ALADYNOULLI integrates longitudinal health records and genetic data to model disease progression, identifying interpretable disease signatures with cross-population consistency and improving clinical prediction.
DOI 10.1101/2024.09.29.24314557 - BioinformaticsHuman Brain MappingPeer-reviewed
Brain-Age Prediction: Systematic Evaluation of Site Effects, and Sample Age Range and Size
Yuetong Yu, H. Cui, Shalaila S. Haas…·ENIGMA‐Lifespan Working Group
The paper evaluates factors affecting brain-age prediction models using structural neuroimaging data from 35,683 individuals, finding optimal model performance with no site harmonization, age-binning, and a sample size of over 1,600.
- Genetic & Genomic MedicineCommunications BiologyPeer-reviewed
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities
Eric Venner, Karynne Patterson, Divya Kalra…·May Okihiro
The paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.
61 citationstop 1% - NeuroscienceCell ReportsPeer-reviewed
The molecular genetic landscape of human brain size variation
Jakob Seidlitz, Travis T. Mallard, Jacob W. Vogel…·Aaron F. Alexander‐Bloch
This study identifies 928 genes associated with brain weight variation across three datasets and links them to neurodevelopmental processes and brain function.
5 citations - Genetic & Genomic MedicinemedRxivPreprint
Decoding Genetics, Ancestry, and Geospatial Context for Precision Health
Satoshi Koyama, Ying Wang, Kaavya Paruchuri…·Pradeep Natarajan
The paper analyzes genetic, ancestral, and geospatial data from a biobank to explore their relationships with health outcomes in a historically diverse population.
23 citations - Genetic & Genomic MedicinemedRxivPreprint
Association Between Psychiatric Polygenic Scores, Healthcare Utilization and Chronic Disease Comorbidity Burden Among European Ancestry Individuals
Henry Lester Kirchner, Daniel Rocha, Richard Karlsson Linnér…·Jordan W. Smoller
The paper examines the association between psychiatric polygenic scores and healthcare utilization and comorbidity burden in individuals of European ancestry, finding significant links for major depressive disorder.
DOI 10.1101/2023.09.29.23296345 - Genetic & Genomic MedicineCell GenomicsPeer-reviewed
Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions
Eduardo A. Maury, Maxwell A. Sherman, Giulio Genovese…·Brandon K. Wormley
This study identifies somatic copy number variants (sCNVs) in schizophrenia cases, revealing their contribution to risk and specific NRXN1 disruptions.
47 citationstop 2% - Genetic & Genomic MedicinemedRxivPreprint
Identifying modifiable comorbidities of schizophrenia by integrating electronic health records and polygenic risk
Tess Vessels, Nick Strayer, Karmel W. Choi…·Douglas M. Ruderfer
This study identifies modifiable comorbidities of schizophrenia by analyzing EHR data and polygenic risk scores, finding conditions with no shared genetic risk that may be influenced by treatment or environment.
2 citations - Genetic & Genomic MedicinemedRxivPreprint
Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations
Niall J. Lennon, Leah Claire Kottyan, C. Kachulis…·Eimear E. Kenny
The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.
7 citations - Genetic & Genomic MedicinemedRxivPreprint
Multi-ancestry meta-analysis of tobacco use disorder based on electronic health record data prioritizes novel candidate risk genes and reveals associations with numerous health outcomes
Sylvanus Toikumo, Mariela V. Jennings, Benjamin K. Pham…·Sandra Sanchez‐Roige
This study performs a multi-ancestry meta-analysis of tobacco use disorder using electronic health records, identifying 88 risk loci and 461 potential risk genes, and linking TUD to various health outcomes.
8 citations - Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Multivariate Genomic Architecture of Cortical Thickness and Surface Area at Multiple Levels of Analysis
Andrew David Grotzinger, Travis T. Mallard, Zhaowen Liu…·Jordan W. Smoller
The paper models genetic relationships between cortical thickness and surface area using Genomic SEM, identifies gene categories associated with pleiotropy, and links these traits to psychiatric and cognitive outcomes.
- BioinformaticsbioRxivPreprint
Normative Modeling of Brain Morphometry Across the Lifespan using CentileBrain: Algorithm Benchmarking and Model Optimization
Ruiyang Ge, Yuetong Yu, Yi Xuan Qi…·Bernd Weber
The paper benchmarks and optimizes a normative modeling framework for brain morphometry across the lifespan using MFPR, showing excellent accuracy and stability.
- Genetic & Genomic MedicineCell GenomicsPeer-reviewed
Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts
Ying Wang, Shinichi Namba, Esteban A. Lopera-Maya…·Clara Lajonchere
This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.
118 citationstop 1% - Genetic & Genomic MedicinemedRxivPreprint
T-SEM of 11 Major Psychiatric Disorders: Identification of Gene Expression Patterns for Cross-Disorder Risk and Drug Repurposing
Andrew David Grotzinger, Kritika Singh, Tyne W. Miller‐Fleming…·Jordan W. Smoller
This study uses T-SEM to identify gene expression patterns linked to genetic overlap and disorder-specific risk in psychiatric disorders, finding potential drug repurposing targets.
1 citation