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R. Kosoy, J. Fullard, J. Bendl, Steven P. Kleopoulos, Z. Shao, S. Argyriou, D. Mathur, Konstantina Psychogyiou, Periklis Malakates, J. Vicari, Yixuan Ma, Jack Humphrey, Erica Brophy, T. Raj, P. Katsel, G. Voloudakis, Donghoon Lee, D. Bennett, Vahram Haroutunian, Gabriel E. Hoffman, P. Roussos
Nature Neuroscience, 2025
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bioRxiv, 2025
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Nature Genetics, 2025
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medRxiv, 2025
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medRxiv, 2025
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medRxiv, 2025
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Nature Neuroscience, 2025
The human microglia responsome: a resource for microglia states in health and disease.
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Nature Communications, 2024
Artificial intelligence for dementia genetics and omics
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Nature Communications, 2023
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Nature Genetics, 2022
J. Humphrey, S. Venkatesh, R. Hasan, Jake T. Herb, K. de Paiva Lopes, Fahri Küçükali, M. Byrska-Bishop, U. S. Evani, G. Narzisi, D. Fagegaltier, K. Sleegers, H. Phatnani, David A. Knowles, P. Fratta, T. Raj
Nature Neuroscience, 2022
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Nature Genetics, 2022
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
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Nature, 2022
G. Riboldi, R. Vialle, Elisa Navarro, E. Udine, K. de Paiva Lopes, J. Humphrey, Amanda Allan, M. Parks, Brooklyn Henderson, Kelly Astudillo, Charalambos Argyrou, Maojuan Zhuang, Tamjeed Sikder, J. Oriol Narcis, Shilpa Dilip Kumar, W. Janssen, Allison Sowa, G. Comi, A. Di Fonzo, J. Crary, S. Frucht, T. Raj
Molecular Neurodegeneration, 2022
Dysregulation of mitochondrial and proteolysosomal genes in Parkinson’s disease myeloid cells
Elisa Navarro, E. Udine, Katia de Paiva Lopes, M. Parks, G. Riboldi, B. Schilder, J. Humphrey, G. Snijders, R. Vialle, Maojuan Zhuang, Tamjeed Sikder, Charalambos Argyrou, Amanda Allan, M. Chao, K. Farrell, Brooklyn Henderson, Sarah Simon, D. Raymond, S. Elango, Robert Ortega, V. Shanker, M. Swan, C. Zhu, Ritesh A. Ramdhani, R. Walker, W. Tse, M. Sano, Ana C. Pereira, Tim Ahfeldt, A. Goate, S. Bressman, John F. Crary, L. D. de Witte, S. Frucht, R. Saunders-Pullman, T. Raj
Nature Aging, 2021
Genetic Effects on Human Microglia Transcriptome in Neuropsychiatric Diseases
G. Snijders, Katia de Paiva Lopes, J. Humphrey, Amanda Allan, M. Sneeboer, Elisa Navarro, B. Schilder, R. Vialle, M. Parks, Roy Missall, W. Zuiden, F. Gigase, Raphael Kubler, A. B. V. Berlekom, Chotima Bottcher, Josef Priller, R. Kahn, L. Witte, T. Raj
Biological Psychiatry, 2021
Genetics of the human microglia regulome refines Alzheimer’s disease risk loci
R. Kosoy, J. Fullard, B. Zeng, J. Bendl, Pengfei Dong, Samir Rahman, Steven P. Kleopoulos, Zhiping Shao, K. Girdhar, J. Humphrey, Katia de Paiva Lopes, A. Charney, B. Kopell, T. Raj, David A. Bennett, C. Kellner, V. Haroutunian, G. Hoffman, P. Roussos
Nature Genetics, 2021
A. Bampton, A. Gatt, J. Humphrey, S. Cappelli, Dipanjan Bhattacharya, Sandrine C. Foti, Anna L. Brown, Y. Asi, Yi-Hua Low, M. Foiani, T. Raj, E. Buratti, P. Fratta, T. Lashley
Acta Neuropathologica, 2021
Rahat Hasan, J. Humphrey, C. Bettencourt, J. Newcombe, T. Lashley, P. Fratta, T. Raj
Acta Neuropathologica, 2021
Andrea Cortese, Roberto Simone, Rosin Sullivan, J. Vandrovcova, Yau Way Yan, J. Humphrey, Z. Jaunmuktane, J. Polke, M. Ilyas, Eloise Tribollet, P. Tomaselli, G. Devigili, I. Callegari, Maurizio Versino, V. Salpietro, S. Efthymiou, D. Kaski, Nick W. Wood, Nadja S. Andrade, Elena, Buglo, A. Rebelo, A. Rossor, Adolfo M. Bronstein, W. Marques, S. Züchner, M. Reilly, H. Houlden
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Nucleic Acids Research, 2020
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation
N. Birsa, A. Ule, M. G. Garone, B. Tsang, F. Mattedi, P. A. Chong, J. Humphrey, Seth Jarvis, Melis Pisiren, O. Wilkins, Michael L. Nosella, A. Devoy, C. Bodo, Rafaela Fernandez de la Fuente, E.M.C. Fisher, A. Rosa, G. Viero, J. Forman-Kay, G. Schiavo, P. Fratta
Science Advances, 2020
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
M. Prudencio, J. Humphrey, Sarah R Pickles, Anna L. Brown, Sarah E. Hill, J. Kachergus, Ji Shi, M. Heckman, Matthew R. Spiegel, C. Cook, Yuping Song, Mei Yue, Lillian M. Daughrity, Y. Carlomagno, Karen R. Jansen-West, Cristhoper H. Fernandez De Castro, M. DeTure, S. Koga, Ying-Chih Wang, P. Sivakumar, C. Bodo, A. Candalija, K. Talbot, B. Selvaraj, K. Burr, S. Chandran, J. Newcombe, T. Lashley, I. Hubbard, Demetra Catalano, Duyang Kim, Nadia A. Propp, S. Fennessey, D. Fagegaltier, H. Phatnani, M. Secrier, E. Fisher, B. Oskarsson, M. van Blitterswijk, R. Rademakers, N. Graff-Radford, B. Boeve, D. Knopman, R. Petersen, K. Josephs, E. Thompson, T. Raj, Michael E. Ward, Dennis W. Dickson, T. Gendron, P. Fratta, L. Petrucelli
Journal of Clinical Investigation, 2020
T. Raj, Yang I. Li, G. Wong, J. Humphrey, Minghui Wang, Satesh Ramdhani, Ying-Chih Wang, B. Ng, Ishaan Gupta, V. Haroutunian, E. Schadt, Tracy L. Young-Pearse, S. Mostafavi, Bin Zhang, P. Sklar, D. Bennett, P. D. De Jager
Nature Genetics, 2018
P. Fratta, P. Sivakumar, J. Humphrey, K. Lo, T. Ricketts, H. Oliveira, J. M. Brito-Armas, B. Kalmar, A. Ule, Yichao Yu, N. Birsa, C. Bodo, T. Collins, Alexander E. Conicella, Alan Mejia Maza, A. Marrero-Gagliardi, M. Stewart, J. Mianné, Silvia Corrochano, W. Emmett, G. Codner, M. Groves, R. Fukumura, Y. Gondo, M. Lythgoe, E. Pauws, E. Peskett, P. Stanier, L. Teboul, Martina Hallegger, A. Calvo, A. Chiò, A. Isaacs, N. Fawzi, Eric T. Wang, D. Housman, F. Baralle, L. Greensmith, E. Buratti, V. Plagnol, E. Fisher, A. Acevedo-Arozena
EMBO Journal, 2018
Annotation-free quantification of RNA splicing using LeafCutter
Yang I. Li, David A. Knowles, J. Humphrey, A. Barbeira, Scott P. Dickinson, H. Im, J. Pritchard
Nature Genetics, 2017
A. Devoy, B. Kalmar, M. Stewart, H. Park, B. Burke, Suzanna Noy, Yushi T. Redhead, J. Humphrey, K. Lo, J. Jaeger, Alan Mejia Maza, P. Sivakumar, C. Bertolin, G. Soraru', V. Plagnol, L. Greensmith, Abraham Acevedo Arozena, A. Isaacs, B. Davies, P. Fratta, E. Fisher
Brain : a journal of neurology, 2017
Prioritizing Parkinson’s disease genes using population-scale transcriptomic data
Yang I. Li, G. Wong, J. Humphrey, T. Raj
Nature Communications, 2017
Quantitative analysis of cryptic splicing associated with TDP-43 depletion
J. Humphrey, W. Emmett, P. Fratta, A. Isaacs, V. Plagnol
BMC Medical Genomics, 2016