Artificial intelligence for dementia genetics and omics
C. Bettencourt, Nathan G. Skene, S. Bandres-Ciga, Emma Anderson, L. Winchester, I. Foote, Jeremy Schwartzentruber, J. Botía, M. Nalls, A. Singleton, B. Schilder, J. Humphrey, Sarah J. Marzi, Christina E. Toomey, Ahmad Al Kleifat, E. Harshfield, V. Garfield, C. Sandor, Samuel Keat, S. Tamburin, C. S. Frigerio, I. Lourida, J. Ranson, D. Llewellyn
Alzheimer's & Dementia, 2023
Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology
O. Ziff, Jacob Neeves, Jamie S. Mitchell, Giulia E. Tyzack, C. Martínez-Ruiz, Raphaëlle Luisier, A. Chakrabarti, N. Mcgranahan, K. Litchfield, S. Boulton, A. Al-Chalabi, Gavin P. Kelly, J. Humphrey, R. Patani
Nature Communications, 2023
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
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
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
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
Rahat Hasan, J. Humphrey, C. Bettencourt, J. Newcombe, T. Lashley, P. Fratta, T. Raj
Acta Neuropathologica, 2021
J. Humphrey, N. Birsa, Carmelo Milioto, Martha McLaughlin, A. Ule, D. Robaldo, A. B. Eberle, Rahel Kräuchi, Matthew Bentham, Anna L. Brown, Seth Jarvis, C. Bodo, M. G. Garone, A. Devoy, G. Soraru', A. Rosa, I. Bozzoni, E. Fisher, O. Mühlemann, G. Schiavo, M. Ruepp, A. Isaacs, V. Plagnol, P. Fratta
Nucleic Acids Research, 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
Quantitative analysis of cryptic splicing associated with TDP-43 depletion
J. Humphrey, W. Emmett, P. Fratta, A. Isaacs, V. Plagnol
BMC Medical Genomics, 2016