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2026

Journal Article

Drug screen and machine learning predict neuroprotective agents in a preclinical human model of childhood dementia

Greenberg, Zarina, McDonald, Ella, Noreña Puerta, Alejandra, De Silva, Manam Inushi, Christensen, Cade, Adams, Robert, Tran, Jenne, Mazzachi, Paris, Loskarn, Sebastian, Mubarokah, Siti N., Winner, Leanne, Neavin, Drew, Maack, Megan, Elvidge, Kristina L., Melton, Lisa, Hutchinson, Mark R., Hemsley, Kim M., Smith, Nicholas and Bardy, Cedric (2026). Drug screen and machine learning predict neuroprotective agents in a preclinical human model of childhood dementia. Nature Communications. doi: 10.1038/s41467-026-76837-1

Drug screen and machine learning predict neuroprotective agents in a preclinical human model of childhood dementia

2026

Journal Article

Stochasticity in response to rostrocaudal and mediolateral determinants influences inaccurate specification within kidney organoids

Wilson, Sean B., Vanslambrouck, Jessica M., Er, Pei Xuan, Xie, Mian, Baric, Hannah, Vidal Pitarch, Berta, Agafonova, Alisa, Arora, Himanshi, Muskovic, Walter, Neavin, Drew, Murphy, Angela, Trusina, Ala, Howden, Sara E., Zylberberg, Allara K., Lawlor, Kynan T., Powell, Joseph E. and Little, Melissa H. (2026). Stochasticity in response to rostrocaudal and mediolateral determinants influences inaccurate specification within kidney organoids. Genome Biology. doi: 10.1186/s13059-026-04221-9

Stochasticity in response to rostrocaudal and mediolateral determinants influences inaccurate specification within kidney organoids

2026

Journal Article

Primary sclerosing cholangitis displays distinct colonic mucosa topography yet a shared mast cell state with ulcerative colitis

Tearle, Jacqueline LE, Sviriaeva, Ekaterina, Zhang, Fan, Jackson, Katherine JL, Kaye, Joshua, Tavakoli, Paris, Koentgen, Sabrina, Warren, Joanna, Liang, Raymond R., Malhotra, Pratibha, Williams, Cameron, Haque, Ashraful, Arzivian, Arteen, Sudhakar, Kavitha K., Neavin, Drew, Tedla, Nicodemus, Kim, Andrew, Haifer, Craig, King, Hamish W., Hold, Georgina L., Ghaly, Simon and James, Kylie R. (2026). Primary sclerosing cholangitis displays distinct colonic mucosa topography yet a shared mast cell state with ulcerative colitis. Nature Communications. doi: 10.1038/s41467-026-75231-1

Primary sclerosing cholangitis displays distinct colonic mucosa topography yet a shared mast cell state with ulcerative colitis

2026

Journal Article

Classification of indeterminate and off-target cell types within human kidney organoid differentiation

Wilson, Sean B., Vanslambrouck, Jessica M., Murphy, Angela, Neavin, Drew R., Powell, Joseph E., Howden, Sara E. and Little, Melissa H. (2026). Classification of indeterminate and off-target cell types within human kidney organoid differentiation. iScience, 29 (6) 115752, 115752-6. doi: 10.1016/j.isci.2026.115752

Classification of indeterminate and off-target cell types within human kidney organoid differentiation

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

2025

Conference Publication

A polygenic risk score to predict immunotherapy toxicity: A pilot single-cell RNA sequencing study

Lim, J.W.Y., Keith, P., McCloy, R., Neavin, D., Spenceley, E., Xu, A., Krishna Sudhakar, K., Bowen, B., Suan, D., Mehta, A., Joshua, A.M., Chin, V. and Powell, J. (2025). A polygenic risk score to predict immunotherapy toxicity: A pilot single-cell RNA sequencing study. ESMO Congress 2025, Berlin, Germany, 17-21 October 2025. Amsterdam, Netherlands: Elsevier. doi: 10.1016/j.annonc.2025.08.640

A polygenic risk score to predict immunotherapy toxicity: A pilot single-cell RNA sequencing study

2024

Conference Publication

Predicting immunotherapy toxicity through single-cell sequencing of peripheral immune cells: A pilot study

Lim, Jennifer Wen Ying, Chin, Venessa T., Keith, Patricia, McCloy, Rachael, Neavin, Drew, Xue, Angli, Kaczorowski, Dominik, Spenceley, Ellie, Arora, Himanshi, Joshua, Anthony M. and Powell, Joseph (2024). Predicting immunotherapy toxicity through single-cell sequencing of peripheral immune cells: A pilot study. 2024 ASCO Annual Meeting, 31 May - 4 June 2024, Chicago, Ill, United States. Alexandria, VA, United States: American Society of Clinical Oncology. doi: 10.1200/jco.2024.42.16_suppl.e14538

Predicting immunotherapy toxicity through single-cell sequencing of peripheral immune cells: A pilot study

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

Demuxafy: improvement in droplet assignment by integrating multiple single-cell demultiplexing and doublet detection methods

Neavin, Drew, Senabouth, Anne, Arora, Himanshi, Lee, Jimmy Tsz Hang, Ripoll-Cladellas, Aida, sc-eQTLGen Consortium, Franke, Lude, Prabhakar, Shyam, Ye, Chun Jimmie, McCarthy, Davis J., Melé, Marta, Hemberg, Martin and Powell, Joseph E. (2024). Demuxafy: improvement in droplet assignment by integrating multiple single-cell demultiplexing and doublet detection methods. Genome Biology, 25 (1) 94, 1-24. doi: 10.1186/s13059-024-03224-8

Demuxafy: improvement in droplet assignment by integrating multiple single-cell demultiplexing and doublet detection methods

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