Humphrey Lab

Genetics of Neurodegeneration

Functional Genomics


Publications


Long-read RNA-seq atlas of novel microglia isoforms elucidates disease-associated genetic regulation of splicing


Jack Humphrey, Erica Brophy, R. Kosoy, Biao Zeng, Elena Coccia, Daniele Mattei, Ashvin Ravi, Anastasia G. Efthymiou, Elisa Navarro, Benjamin Z Muller, G. J. Snijders, Amanda Allan, Alexandra Münch, Reta Birhanu Kitata, S. Kleopoulos, S. Argyriou, Z. Shao, Nancy Francoeur, Chia-Feng Tsai, Marina A. Gritsenko, M. Monroe, V. Paurus, K. Weitz, Tujin Shi, R. Sebra, Tao Liu, L. D. de Witte, A. Goate, D. Bennett, V. Haroutunian, G. Hoffman, J. Fullard, P. Roussos, Towfique Raj

medRxiv, 2023


TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A


Anna L. Brown, O. Wilkins, M. Keuss, Sarah E. Hill, M. Zanovello, Weaverly Colleen Lee, A. Bampton, Flora C. Y. Lee, L. Masino, Y. Qi, S. Bryce-Smith, A. Gatt, Martina Hallegger, D. Fagegaltier, H. Phatnani, Hemali Justin Dhruv James R. Zachary Ximena Edward B. Viv Phatnani Kwan Sareen Broach Simmons Arcila-Londono, Justin Kwan, D. Sareen, James R. Broach, Zachary Simmons, X. Arcila-Londono, Edward B. Lee, V. V. Van Deerlin, N. Shneider, E. Fraenkel, L. Ostrow, Frank Baas, Noah Zaitlen, James D. Berry, A. Malaspina, P. Fratta, Gregory A. Cox, Leslie M. Thompson, Steve Finkbeiner, E. Dardiotis, Timothy Miller, Siddharthan Chandran, S. Pal, E. Hornstein, D. Macgowan, Terry Heiman-Patterson, M. G. Hammell, N. Patsopoulos, O. Butovsky, Joshua Dubnau, Avindra Nath, Robert Bowser, Matthew M Harms, Eleonora Aronica, Mary Poss, Jennifer Phillips-Cremins, John Crary, N. Atassi, Dale J. Lange, Darius J. Adams, Leonidas Stefanis, M. Gotkine, Robert H. Baloh, Suma Babu, Towfique Raj, S. Paganoni, Ophir Shalem, Colin Smith, Bin Zhang, Brent Harris, Iris J. Broce, V. Drory, J. Ravits, Corey McMillan, Vilas Menon, Lani Wu, Steve Altschuler, Y. Lerner, Rita Sattler, K. Van Keuren-Jensen, O. Rozenblatt-Rosen, Kerstin Lindblad-Toh, Katharine Nicholson, Peter Gregersen, Jeong H. Lee, Sulev Kokos, Stephen Muljo, J. Newcombe, E. Gustavsson, S. Seddighi, Joel F Reyes, Steve Coon, Daniel M. Ramos, G. Schiavo, E.M.C. Fisher, Towfique Raj, M. Secrier, T. Lashley, J. Ule, E. Buratti, J. Humphrey, Michael E. Ward, P. Fratta

Nature, 2022


Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes


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


Genetic analysis of the human microglia transcriptome across brain regions, aging and disease pathologies


Katia de Paiva Lopes, G. Snijders, J. Humphrey, Amanda Allan, M. Sneeboer, Elisa Navarro, B. Schilder, R. Vialle, M. Parks, Roy Missall, Welmoed van Zuiden, F. Gigase, Raphael Kübler, Amber Berdenis van Berlekom, Emily M. Hicks, Chotima Bӧttcher, J. Priller, R. Kahn, L. D. de Witte, T. Raj

Nature Genetics, 2022