Publications

2026

  • 2026

    World Journal of Pediatrics·2026

    Individual and temporal differences in the effects of parenteral nutrition duration on neonatal sepsis: a nationwide cohort study, 2013–2022 (Accepted and in press)

    Hwang J*, Koh H*, Park J*, Chang YS, Cha WC, Park WY, Ahn SY*, Joo YY*

    Medical AICausal Machine LearningElectronic Health RecordsReproductive & Maternal Health
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  • Communication Medicine·2026

    Polygenic risk-informed white matter integrity improves deep learning-based prediction of youth depression

    Min JJ, Wang HH, Lee E, Kim B, Kin G, Choi SY, Choi K, Hong SH, Jang Y, Rah YU, Kim JY, Han S, Lee KH, Kimg J, Dijk M, Kim J, Chung G, Chung D, Lee SA, Joo YY & Cha J

    Polygenic PredictionMedical AIMental Health
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  • The Lancet Diabetes & Endocrinology·2026

    Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries

    Huerta-Chagoya A, Kim J, Mandla R, Lu Y, Suzuki K, Petty LE, Ng HK, Choi J, Lee S, Rout M, Lin K, Taylor K, ENSA Genomics Consortium, Genes & Health Research Team, VA Million Veteran Program, Aguilar-Salinas CA, García-García L, González-Villalpando C, Haiman CA, Kim YJ, Kwak SH, Leong A, Loos RJF, Moreno-Estrada A, Morris AP, Orozco L, Rotter JI, Sanghera D, Tusie-Luna T, Voight BF, Vujkovic M, Walters RG, Ge T, Manning AK, Loh M, Below JE, Sim X, Mercader JM, Ng MCY, D-PRISM Consortium

    Polygenic Prediction
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2025

  • Journal of Child Psychology and Psychiatry·2025

    Individual Differences in Effects of Stressful Life Events on Childhood ADHD: Genetic, Neural, and Familial Contributions

    Choi SY, Yi J, Park J, Lee E, Kim BG, Kim G, Joo YY, Cha J

    Mental HealthPolygenic PredictionMedical AI
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  • Nature Communications·2025

    Polygenic architecture of brain structure and function, behaviors, and psychopathologies in children

    Joo YY*, Kim BG*, Kim G*, Lee E*, Seo J, Cha J

    Medical AIPolygenic PredictionMental HealthImaging Genetics & Neurogenetics
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  • Molecular Psychiatry·2025

    Polygenic scores for psychiatric traits mediate the impact of multigenerational history for depression on offspring psychopathology

    Lee E*, van Dijk MT*, Kim BG, Kim G, Murphy E, Talati A, Joo YY, Weissman MM, Cha J

    Imaging Genetics & NeurogeneticsMental HealthPolygenic Prediction
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2024

  • Journal of Korean Medical Science·2024

    Similar but Distinct Comorbidity Patterns Between Polycystic Ovary Syndrome and Endometriosis in Korean Women: A Nationwide Cohort Study

    Jeong HG*, Jeon M*, Ryu KJ, Kim J, Choe BY, Joo YY*, Park H*

    Electronic Health Records
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  • Elife·2024

    Gene–environment pathways to cognitive intelligence and psychotic-like experiences in children

    Park J, Lee E, Cho G, Hwang H, Kim BG, Kim G, Joo YY*, Cha J*

    Imaging Genetics & NeurogeneticsMental HealthPolygenic Prediction
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  • Journal of Psychiatric Research·2024

    Multimodal integration of neuroimaging and genetic data for the diagnosis of mood disorders based on computer vision models

    Lee S*, Cho Y*, Ji Y, Jeon M, Kim A, Ham BJ*, Joo YY*

    Electronic Health RecordsMedical AIImaging Genetics & NeurogeneticsMental HealthPolygenic Prediction
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  • BMC Research Notes 17·2024

    Genetic sex validation for sample tracking in next-generation sequencing clinical testing

    Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, G Chandanavelli, D Pasham, R Rowley, K Wiley, ME Smith, A Gordon, GP Jarvik, P Sleiman, MA Kelly, HT Bland, M Murugan, E Venner, E Boerwinkle, eMERGE III consortium, C Prows, L Mahanta, HL Rehm, RA Gibbs, DM Muzny

    Electronic Health RecordsGenomics & Multi-omics
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  • Nature genetics·2024

    Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

    Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Melloni GE, Kanoni S, Rayner NW et al

    Genomics & Multi-omics
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  • Heliyon·2024

    Early life stress modulates the genetic influence on brain structure and cognitive function in children

    Wang HH*, Moon SY*, Kim H, Kim G, Ahn WY, Joo YY*, Cha J*

    Imaging Genetics & NeurogeneticsPolygenic PredictionMental Health
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2023

  • Journal of Investigative Dermatology·2023

    Topical ozone accelerates diabetic wound healing by promoting re-epithelialization via activation of IGF1R-EGFR signaling

    Lu JY, Wang XQ, Fu Z, Gao L, Mannam H, Xiang Y, Joo YY, Zeng J, Wang D, Paller AS

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  • BMC Genomic Data·2023

    Overestimated Polygenic Prediction due to Overlapping Subjects in Genetic Datasets

    Park DK, Chen M, Kim S, Joo YY, Loving RK, Kim HS, Cha J, Yoo S, Kim JH

    Polygenic Prediction
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  • PLoS One·2023

    Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm

    Joo YY, Pacheco JA, Thompson WK, Rasmussen-Torvik LJ, Rasmussen LV, Lin FTJ, Andrade M, Borthwick KM, Bottinger E, Cagan A, Carrell DS, Denny JC, Ellis SB, Gottesman O, Linneman JG, Pathak J, Peissig PL, Shang N, Tromp G, Veerappan A, Smith ME, Chisholm RL, Gawron AJ, Hayes MG, Kho AN

    Electronic Health RecordsMedical AIGenomics & Multi-omics
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  • JAMA Network Open·2023

    National Trends in sadness and suicidality among Korean adolescents in 2005-2021: a nationwide representative study in 1.1 million individuals

    Park S, Yon H, Lee SW, Koyanagi A, Jacob L, Smith L, Cho W, Min C, Lee J, Lee H, Kwon R, Fond G, Boyer L, Rhee SY, Joo YY, Shin JI, Woo HG, Yon DK

    Electronic Health RecordsMental Health
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  • Journal of Child Psychology and Psychiatry·2023

    Maternal age at birth and child attention‐deficit hyperactivity disorder: causal association or familial confounding?

    Baker BH, Joo YY, Park J, Cha J, Baccarelli AA, Posner J

    Polygenic PredictionReproductive & Maternal HealthMental Health
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2022

  • Frontiers in Endocrinology·2022

    Misperception of body weight and associated socioeconomic and health-related factors among Korean female adults: A nationwide population-based study

    Joo YY, Kim J, Lee K, Cho GJ, Yi KW

    Electronic Health RecordsMedical AI
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  • Nature·2022

    Genetic diversity fuels gene discovery for tobacco and alcohol use

    Saunders GR, Wang X, Chen F, Jang SK, Liu M, Wang C, Gao S, Jiang Y, Khunsriraksakul C, Otto JM, Addison C, et al

    Genomics & Multi-omics
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  • Cancer medicine·2022

    Statin use in patients with hormone receptor‐positive metastatic breast cancer treated with everolimus and exemestane

    Lee K, Noh E, Moon SJ, Joo YY, Kang EJ, Seo JH, Park IH

    Electronic Health Records
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  • Genes·2022

    Cognitive Capacity Genome-Wide Polygenic Scores Identify Individuals with Slower Cognitive Decline in Aging

    Joo YY, Cha J, Freese J, Hayes MG

    Polygenic PredictionAgingMental HealthMedical AIGenomics & Multi-omics
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  • Nature genetics·2022

    Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

    Mahajan A, Spracklen CN, Zhang W, Ng MC, Petty LE, Kitajima H, Yu GZ, Rüeger S, Speidel L, Kim YJ, Horikoshi M et al

    Genomics & Multi-omics
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  • Human Brain Mapping·2022

    The sexual brain, genes, and cognition: A machine‐predicted brain sex score explains individual differences in cognitive intelligence and genetic influence in young children

    Kim K, Joo YY, Ahn G, Wang HH, Moon SY, Kim H, Ahn WY, Cha J

    Imaging Genetics & NeurogeneticsPolygenic Prediction
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  • JAMA network open·2022

    Association of genome-wide polygenic scores for multiple psychiatric and common traits in preadolescent youths at risk of suicide

    Joo YY, Moon SY, Wang HH, Kim H, Lee EJ, Kim JH, Posner J, Ahn WY, Choi I, Kim JW, Cha J

    Mental HealthPolygenic PredictionMedical AIGenomics & Multi-omics
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2021

  • Genetics in Medicine·2021

    Neptune: an environment for the delivery of genomic medicine

    Venner E, Yi V, Murdock DR, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA, eMERGE Consortium

    Electronic Health Records
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  • Human Genetics and Genomics Advances·2021

    Genetic discovery and risk characterization in type 2 diabetes across diverse populations

    Polfus LM, Darst BF, Highland H, Sheng X, Ng MCY, Below JE, Petty L, Bien S, Sim X, Wang W, Fontanillas P, Patel Y, Preuss M, Schurmann C, Du Z, Lu Y, Rhie SK, Mercader JM, Tusie-Luna T, González-Villalpando C, Orozco L, Spracklen CN, Cade BE, Jensen RA, Sun M, Joo YY, An P, Yanek LR, Bielak LF, Tajuddin S, Nicolas A, Chen G, Raffield L, Guo X, Chen W-M, Nadkarni GN, Graff M, Tao R, Pankow JS, Daviglus M, Qi Q, Boerwinkle EA, Liu S, Phillips LS, Peters U, Carlson C, Wikens LR, Le Marchand L, North KE, Buyske S, Kooperberg C, Loos RJF, Stram DO, Haiman CA

    Electronic Health RecordsGenomics & Multi-omics
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2020

  • Human Genetics and Genomics Advances·2020

    Lessons learned from the eMERGE Network: balancing genomics in discovery and practice

    eMERGE Consortium

    Electronic Health Records
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  • BMJ open·2020

    Secular trends in postpartum weight retention from 2003 to 2012: a nationwide, population-based, retrospective, longitudinal study in South Korea

    Joo YY, Park JH, Choi S, Cho GJ

    Electronic Health Records
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  • Journal of Clinical Endocrinology & Metabolism·2020

    A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

    Joo YY, Actkins K, Pacheco JA, Basile AO, Carroll R, Crosslin DR, Day F, Denny JC, Velez Edwards DR, Hakonarson H, Harley JB, Hebbring SJ, Ho K, Jarvik GP, Jones M, Karaderi T, Mentch FD, Meun C, Namjou B, Pendergrass S, Ritchie MD, Stanaway IB, Urbanek M, Walunas TL, Smith M, Chisholm RL, Kho AN, Davis L, Hayes MG, International PCOS Consortium

    Electronic Health RecordsPolygenic PredictionMedical AIGenomics & Multi-omics
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2019

  • The American Journal of Human Genetics·2019

    Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

    eMERGE Consortium

    Electronic Health Records
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2018

  • Genetic Epidemiology·2018

    The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype

    Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Naranbhai V, Knevel R, Namjou-Khales B, Carroll RJ, Kiryluk K, Gordon AS, Linder J, Howell KM, Mapes BM, Lin FTJ, Joo YY, Hayes MG, Gharavi AG, Pendergrass SA, Ritchie MD, de Andrade M, Croteau-Chonka DC, Raychaudhuri S, Weiss ST, Lebo M, Amr SS, Carrell D, Larson EB, Chute CG, Rasmussen-Torvik LJ, Roy-Puckelwartz MJ, Sleiman P, Hakonarson H, Li R, Karlson EW, Peterson JF, Kullo IJ, Chisholm R, Denny JC, Jarvik GP, e MN, Crosslin DR

    Electronic Health RecordsGenomics & Multi-omics
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