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2025

Journal Article

A novel paradigm for single-cell annotation in stem cell research

Atkeson, Trevor, Wilson, Sean B., Ruiz-Morales, Elias R., Little, Melissa H., Vento-Tormo, Roser, Neavin, Drew and Powell, Joseph E. (2025). A novel paradigm for single-cell annotation in stem cell research. Stem Cell Reports, 20 (12) 102707, 1-20. doi: 10.1016/j.stemcr.2025.102707

A novel paradigm for single-cell annotation in stem cell research

2025

Journal Article

Optimized summary-statistic-based single-cell eQTL meta-analysis

Korshevniuk, Maryna, Westra, Harm-Jan, Oelen, Roy, van der Wijst, Monique G. P., Franke, Lude, Bonder, Marc Jan, Bonder, Marc Jan, Powell, Joseph E., Melé, Marta, Mahfouz, Ahmed, Hemberg, Martin, Ye, Jimmie, Yazar, Seyhan, Trynka, Gosia, Shin, Jay W., Shahin, Tala, Rajagopalan, Deepa, Park, Woong-Yang, Stegle, Oliver, Okada, Yukinori, Nawijn, Martijn C., Moody, Jonathan, Manikanda, Vinu, Idaghdour, Youssef, Hon, Chung-Chau, van der Harst, Pim, Groot, Hilde E., Gordon, M. Grace, Dieng, Mame M. ... Alquicira-Hernández, José (sc-eQTLGen Consortium group member) (2025). Optimized summary-statistic-based single-cell eQTL meta-analysis. Scientific Reports, 15 (1) 28407, 1. doi: 10.1038/s41598-025-08808-3

Optimized summary-statistic-based single-cell eQTL meta-analysis

2025

Journal Article

Protein translation dysregulation and immune cell evasion mediated by IFN and immunoproteasome downregulation define metastatic clones in HPV-related cancer of the oropharynx

Chin, Venessa T., Muskovic, Walter, McCloy, Rachael A., Neavin, Drew R., Alquicira-Hernandez, Jose, Arora, Himanshi, Senabouth, Anne, Sudhakar, Kavitha Krishna, Keith, Patricia, Spenceley, Eleanor, Kaczorowski, Dominik, Floros, Peter, Leavers, Brett, Crawford, Julia A., Gallagher, Richard and Powell, Joseph E. (2025). Protein translation dysregulation and immune cell evasion mediated by IFN and immunoproteasome downregulation define metastatic clones in HPV-related cancer of the oropharynx. BMC Medicine, 23 (1) 559, 1-20. doi: 10.1186/s12916-025-04392-5

Protein translation dysregulation and immune cell evasion mediated by IFN and immunoproteasome downregulation define metastatic clones in HPV-related cancer of the oropharynx

2024

Journal Article

Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases

Farbehi, Nona, Neavin, Drew R., Cuomo, Anna S. E., Studer, Lorenz, MacArthur, Daniel G. and Powell, Joseph E. (2024). Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases. Nature Genetics, 56 (5), 758-766. doi: 10.1038/s41588-024-01731-9

Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases

2024

Journal Article

Molecular profiling of human substantia nigra identifies diverse neuron types associated with vulnerability in Parkinson’s disease

Wang, Qian, Wang, Minghui, Choi, Insup, Sarrafha, Lily, Liang, Marianna, Ho, Lap, Farrell, Kurt, Beaumont, Kristin G., Sebra, Robert, De Sanctis, Claudia, Crary, John F., Ahfeldt, Tim, Blanchard, Joel, Neavin, Drew, Powell, Joseph, Davis, David A., Sun, Xiaoyan, Zhang, Bin and Yue, Zhenyu (2024). Molecular profiling of human substantia nigra identifies diverse neuron types associated with vulnerability in Parkinson’s disease. Science Advances, 10 (2) eadi8287, 1-18. doi: 10.1126/sciadv.adi8287

Molecular profiling of human substantia nigra identifies diverse neuron types associated with vulnerability in Parkinson’s disease

2023

Journal Article

Novel human pluripotent stem cell-derived hypothalamus organoids demonstrate cellular diversity

Sarrafha, Lily, Neavin, Drew R., Parfitt, Gustavo M., Kruglikov, Ilya A., Whitney, Kristen, Reyes, Ricardo, Coccia, Elena, Kareva, Tatyana, Goldman, Camille, Tipon, Regine, Croft, Gist, Crary, John F., Powell, Joseph E., Blanchard, Joel and Ahfeldt, Tim (2023). Novel human pluripotent stem cell-derived hypothalamus organoids demonstrate cellular diversity. iScience, 26 (9) 107525, 1-26. doi: 10.1016/j.isci.2023.107525

Novel human pluripotent stem cell-derived hypothalamus organoids demonstrate cellular diversity

2023

Journal Article

A village in a dish model system for population-scale hiPSC studies

Neavin, Drew R., Steinmann, Angela M., Farbehi, Nona, Chiu, Han Sheng, Daniszewski, Maciej S., Arora, Himanshi, Bermudez, Yasmin, Moutinho, Cátia, Chan, Chia-Ling, Bax, Monique, Tyebally, Mubarika, Gnanasambandapillai, Vikkitharan, Lam, Chuan E., Nguyen, Uyen, Hernández, Damián, Lidgerwood, Grace E., Graham, Robert M., Hewitt, Alex W., Pébay, Alice, Palpant, Nathan J. and Powell, Joseph E. (2023). A village in a dish model system for population-scale hiPSC studies. Nature Communications, 14 (1) 3240, 1-12. doi: 10.1038/s41467-023-38704-1

A village in a dish model system for population-scale hiPSC studies

2023

Journal Article

Pitfalls and opportunities for applying latent variables in single-cell eQTL analyses

Xue, Angli, Yazar, Seyhan, Neavin, Drew and Powell, Joseph E. (2023). Pitfalls and opportunities for applying latent variables in single-cell eQTL analyses. Genome Biology, 24 (1) 33, 1-11. doi: 10.1186/s13059-023-02873-5

Pitfalls and opportunities for applying latent variables in single-cell eQTL analyses

2022

Journal Article

Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration

Senabouth, Anne, Daniszewski, Maciej, Lidgerwood, Grace E., Liang, Helena H., Hernández, Damián, Mirzaei, Mehdi, Keenan, Stacey N., Zhang, Ran, Han, Xikun, Neavin, Drew, Rooney, Louise, Lopez Sanchez, Maria Isabel G., Gulluyan, Lerna, Paulo, Joao A., Clarke, Linda, Kearns, Lisa S., Gnanasambandapillai, Vikkitharan, Chan, Chia-Ling, Nguyen, Uyen, Steinmann, Angela M., McCloy, Rachael A., Farbehi, Nona, Gupta, Vivek K., Mackey, David A., Bylsma, Guy, Verma, Nitin, MacGregor, Stuart, Watt, Matthew J., Guymer, Robyn H. ... Pébay, Alice (2022). Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration. Nature Communications, 13 (1) 4233, 4233-1. doi: 10.1038/s41467-022-31707-4

Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration

2022

Journal Article

Shared genetic susceptibility between trigger finger and carpal tunnel syndrome: a genome-wide association study

Patel, Benjamin, Kleeman, Sam O, Neavin, Drew, Powell, Joseph, Baskozos, Georgios, Ng, Michael, Ahmed, Waheed-Ul-Rahman, Bennett, David L, Schmid, Annina B, Furniss, Dominic and Wiberg, Akira (2022). Shared genetic susceptibility between trigger finger and carpal tunnel syndrome: a genome-wide association study. The Lancet Rheumatology, 4 (8), e556-e565. doi: 10.1016/S2665-9913(22)00180-1

Shared genetic susceptibility between trigger finger and carpal tunnel syndrome: a genome-wide association study

2021

Journal Article

ERICH3: vesicular association and antidepressant treatment response

Liu, Duan, Zhuang, Yongxian, Zhang, Lingxin, Gao, Huanyao, Neavin, Drew, Carrillo-Roa, Tania, Wang, Yani, Yu, Jia, Qin, Sisi, Kim, Daniel C., Liu, Erica, Nguyen, Thanh Thanh Le, Biernacka, Joanna M., Kaddurah-Daouk, Rima, Dunlop, Boadie W., Craighead, W. Edward, Mayberg, Helen S., Binder, Elisabeth B., Frye, Mark A., Wang, Liewei and Weinshilboum, Richard M. (2021). ERICH3: vesicular association and antidepressant treatment response. Molecular Psychiatry, 26 (6), 2415-2428. doi: 10.1038/s41380-020-00940-y

ERICH3: vesicular association and antidepressant treatment response

2021

Journal Article

Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells

Neavin, Drew, Nguyen, Quan, Daniszewski, Maciej S., Liang, Helena H., Chiu, Han Sheng, Wee, Yong Kiat, Senabouth, Anne, Lukowski, Samuel W., Crombie, Duncan E., Lidgerwood, Grace E., Hernández, Damián, Vickers, James C., Cook, Anthony L., Palpant, Nathan J., Pébay, Alice, Hewitt, Alex W. and Powell, Joseph E. (2021). Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells. Genome Biology, 22 (1) 76, 1-19. doi: 10.1186/s13059-021-02293-3

Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells

2021

Journal Article

Alterations in acylcarnitines, amines, and lipids inform about the mechanism of action of citalopram/escitalopram in major depression

MahmoudianDehkordi, Siamak, Ahmed, Ahmed T., Bhattacharyya, Sudeepa, Han, Xianlin, Baillie, Rebecca A., Arnold, Matthias, Skime, Michelle K., John-Williams, Lisa St., Moseley, M. Arthur, Thompson, J. Will, Louie, Gregory, Riva-Posse, Patricio, Craighead, W. Edward, McDonald, William, Krishnan, Ranga, Rush, A. John, Frye, Mark A., Dunlop, Boadie W., Weinshilboum, Richard M., Kaddurah-Daouk, Rima, Kaddurah-Daouk, Rima, Rush, John, Tenenbaum, Jessica, Moseley, Arthur, Thompson, Will, Louie, Gregory, Blach, Colette, Mahmoudiandehkhordi, Siamak, Baillie, Rebecca ... Krishnan, Ranga (2021). Alterations in acylcarnitines, amines, and lipids inform about the mechanism of action of citalopram/escitalopram in major depression. Translational Psychiatry, 11 (1) 153, 1-14. doi: 10.1038/s41398-020-01097-6

Alterations in acylcarnitines, amines, and lipids inform about the mechanism of action of citalopram/escitalopram in major depression

2021

Journal Article

Prediction of short-term antidepressant response using probabilistic graphical models with replication across multiple drugs and treatment settings

Athreya, Arjun P., Brückl, Tanja, Binder, Elisabeth B., John Rush, A., Biernacka, Joanna, Frye, Mark A., Neavin, Drew, Skime, Michelle, Monrad, Ditlev, Iyer, Ravishankar K., Mayes, Taryn, Trivedi, Madhukar, Carter, Rickey E., Wang, Liewei, Weinshilboum, Richard M., Croarkin, Paul E. and Bobo, William V. (2021). Prediction of short-term antidepressant response using probabilistic graphical models with replication across multiple drugs and treatment settings. Neuropsychopharmacology, 46 (7), 1272-1282. doi: 10.1038/s41386-020-00943-x

Prediction of short-term antidepressant response using probabilistic graphical models with replication across multiple drugs and treatment settings

2020

Journal Article

Dual Roles for the TSPYL Family in Mediating Serotonin Transport and the Metabolism of Selective Serotonin Reuptake Inhibitors in Patients with Major Depressive Disorder

Qin, Sisi, Eugene, Andy R., Liu, Duan, Zhang, Lingxin, Neavin, Drew, Biernacka, Joanna M., Yu, Jia, Weinshilboum, Richard M. and Wang, Liewei (2020). Dual Roles for the TSPYL Family in Mediating Serotonin Transport and the Metabolism of Selective Serotonin Reuptake Inhibitors in Patients with Major Depressive Disorder. Clinical Pharmacology and Therapeutics, 107 (3), 662-670. doi: 10.1002/cpt.1692

Dual Roles for the TSPYL Family in Mediating Serotonin Transport and the Metabolism of Selective Serotonin Reuptake Inhibitors in Patients with Major Depressive Disorder

2020

Journal Article

Acylcarnitine metabolomic profiles inform clinically-defined major depressive phenotypes

Ahmed, Ahmed T., MahmoudianDehkordi, Siamak, Bhattacharyya, Sudeepa, Arnold, Matthias, Liu, Duan, Neavin, Drew, Moseley, M. Arthur, Thompson, J. Will, Williams, Lisa St John, Louie, Gregory, Skime, Michelle K., Wang, Liewei, Riva-Posse, Patricio, McDonald, William M., Bobo, William V., Craighead, W. Edward, Krishnan, Ranga, Weinshilboum, Richard M., Dunlop, Boadie W., Millington, David S., Rush, A. John, Frye, Mark A. and Kaddurah-Daouk, Rima (2020). Acylcarnitine metabolomic profiles inform clinically-defined major depressive phenotypes. Journal of Affective Disorders, 264, 90-97. doi: 10.1016/j.jad.2019.11.122

Acylcarnitine metabolomic profiles inform clinically-defined major depressive phenotypes

2019

Journal Article

Pharmacogenomics-driven prediction of antidepressant treatment outcomes: a machine-learning approach with multi-trial replication

Athreya, Arjun P., Neavin, Drew, Carrillo-Roa, Tania, Skime, Michelle, Biernacka, Joanna, Frye, Mark A., Rush, A. John, Wang, Liewei, Binder, Elisabeth B., Iyer, Ravishankar K., Weinshilboum, Richard M. and Bobo, William V. (2019). Pharmacogenomics-driven prediction of antidepressant treatment outcomes: a machine-learning approach with multi-trial replication. Clinical Pharmacology and Therapeutics, 106 (4), 855-865. doi: 10.1002/cpt.1482

Pharmacogenomics-driven prediction of antidepressant treatment outcomes: a machine-learning approach with multi-trial replication

2019

Journal Article

Metabolomic signature of exposure and response to citalopram/escitalopram in depressed outpatients

Bhattacharyya, Sudeepa, Ahmed, Ahmed T., Arnold, Matthias, Liu, Duan, Luo, Chunqiao, Zhu, Hongjie, Mahmoudiandehkordi, Siamak, Neavin, Drew, Louie, Gregory, Dunlop, Boadie W., Frye, Mark A., Wang, Liewei, Weinshilboum, Richard M., Krishnan, Ranga R., Rush, A. John and Kaddurah-Daouk, Rima (2019). Metabolomic signature of exposure and response to citalopram/escitalopram in depressed outpatients. Translational Psychiatry, 9 (1) 173, 1-14. doi: 10.1038/s41398-019-0507-5

Metabolomic signature of exposure and response to citalopram/escitalopram in depressed outpatients

2019

Journal Article

Pharmacogenomic next-generation DNA sequencing: Lessons from the identification and functional characterization of variants of unknown significance in CYP2C9 and CYP2C19

Devarajan, Sandhya, Moon, Irene, Ho, Ming-Fen, Larson, Nicholas B., Neavin, Drew R., Moyer, Ann M., Black, John L., Bielinski, Suzette J., Scherer, Steven E., Wang, Liewei, Weinshilboum, Richard M. and Reid, Joel M. (2019). Pharmacogenomic next-generation DNA sequencing: Lessons from the identification and functional characterization of variants of unknown significance in CYP2C9 and CYP2C19. Drug Metabolism and Disposition, 47 (4), 425-435. doi: 10.1124/dmd.118.084269

Pharmacogenomic next-generation DNA sequencing: Lessons from the identification and functional characterization of variants of unknown significance in CYP2C9 and CYP2C19

2018

Journal Article

Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: Metabolomics-informed genomics

Liu, Duan, Ray, Balmiki, Neavin, Drew R., Zhang, Jiabin, Athreya, Arjun P., Biernacka, Joanna M., Bobo, William V., Hall-Flavin, Daniel K., Skime, Michelle K., Zhu, Hongjie, Jenkins, Gregory D., Batzler, Anthony, Kalari, Krishna R., Boakye-Agyeman, Felix, Matson, Wayne R., Bhasin, Swati S., Mushiroda, Taisei, Nakamura, Yusuke, Kubo, Michiaki, Iyer, Ravishankar K., Wang, Liewei, Frye, Mark A., Kaddurah-Daouk, Rima and Weinshilboum, Richard M. (2018). Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: Metabolomics-informed genomics. Translational Psychiatry, 8 (1) 56, 8. doi: 10.1038/s41398-017-0056-8

Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: Metabolomics-informed genomics