Humphrey Lab

Genetics of Neurodegeneration

Publications


Alzheimer's disease transcriptional landscape in ex vivo human microglia.


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


Cytosine-to-uracil RNA editing is upregulated by pro-inflammatory stimulation of myeloid cells


Hyomin Seo, Winston H. Cuddleston, Ting Fu, Elisa Navarro, M. Parks, Amanda Allan, Anastasia G. Efthymiou, Michael S. Breen, Xinshu Xiao, T. Raj, Jack Humphrey

bioRxiv, 2025


Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing.


Jack Humphrey, Erica Brophy, R. Kosoy, Biao Zeng, Elena Coccia, Daniele Mattei, Ashvin Ravi, T. Naito, Anastasia G. Efthymiou, Elisa Navarro, Claudia De Sanctis, Victoria Flores-Almazan, Benjamin Z Muller, G. J. Snijders, Amanda Allan, Alexandra Münch, Reta Birhanu Kitata, Steven P. Kleopoulos, S. Argyriou, Periklis Malakates, Konstantina Psychogyiou, Z. Shao, Nancy Francoeur, Chia-Feng Tsai, Marina A. Gritsenko, Matthew E Monroe, V. Paurus, Karl K Weitz, Tujin Shi, Robert P Sebra, Tao Liu, Lot D. de Witte, A. Goate, David A. Bennett, Vahram Haroutunian, Gabriel E. Hoffman, J. Fullard, P. Roussos, T. Raj

Nature Genetics, 2025


Mapping genetic effects on splicing in ten thousand post-mortem brain samples reveals novel mediators of neurological disease risk


Aline Réal, Kailash Bp, Winston H. Cuddleston, Benjamin Z Muller, Beomjin Jang, A. Tokolyi, Hong-Hee Won, Jack Humphrey, T. Raj, D. A. Knowles

medRxiv, 2025


Meta-analysis of genetic regulation of RNA editing in the human brain identifies new genes underlying neurological disease


Winston H. Dredge, BP Kailash, Aline Réal, Benjamin Z Muller, Beomjin Jang, Ting Fu, Hyomin Seo, Hong-Hee Won, Michael S. Breen, Xinshu Xiao, D. A. Knowles, Jack Humphrey, T. Raj

medRxiv, 2025


Regulatory landscape of Alzheimer's disease variants in human microglia


Chia-Yi Lee, Ashvin Ravi, Tzu-Chieh Huang, Briana Wyman, Ariana Chriss, Jack Humphrey, D. A. Knowles, C. Cotsapas, L. Huckins, T. Raj, Kristen J. Brennand, Affiliations

medRxiv, 2025


SingleBrain: A Meta-Analysis of Single-Nucleus eQTLs Linking Genetic Risk to Brain Disorders


Beomjin Jang, Kailash Bp, A. Tokolyi, Winston H. Cuddleston, Ashvin Ravi, Sanghyuk Jung, T. Naito, Beomsu Kim, Min Seo Kim, Minyoung Cho, Mi-So Park, Mikaela Rosen, Joel Blanchard, Jack Humphrey, D. A. Knowles, Hong-Hee Won, T. Raj

medRxiv, 2025


TDP-43 loss induces cryptic polyadenylation in ALS/FTD.


Sam Bryce-Smith, Anna-Leigh Brown, Max Z. Y. J. Chien, Dario Dattilo, Puja R Mehta, F. Mattedi, Simone Barattucci, A. Mikheenko, M. Zanovello, F. Pellegrini, Sara Emad El-Agamy, Matthew Yome, Sarah E Hill, Y. A. Qi, Kai Sun, Eugeni Ryadnov, Yixuan Wan, J. N. S. Vargas, N. Birsa, T. Raj, Jack Humphrey, M. Keuss, O. Wilkins, Michael E. Ward, M. Secrier, P. Fratta

Nature Neuroscience, 2025


The human microglia responsome: a resource for microglia states in health and disease.


G. J. Snijders, Katia de Paiva Lopes, M. Sneeboer, Benjamin Z Muller, F. Gigase, Dante D’Urso, R. Vialle, Roy Missall, Raphael Kubler, T. Raj, Jack Humphrey, Lot D. de Witte

Brain, behavior, and immunity, 2025


Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes


K. Farrell, Jack Humphrey, Timothy S. Chang, Yi Zhao, Y. Leung, Pavel P. Kuksa, Vishakha Patil, Wan-Ping Lee, A. Kuzma, O. Valladares, L. Cantwell, Hui Wang, Ashvin Ravi, Claudia De Sanctis, N. Han, Thomas D. Christie, Robina Afzal, Shrishtee Kandoi, Kristen Whitney, Margaret M. Krassner, Hadley W. Ressler, SoongHo Kim, Diana K. Dangoor, Megan A. Iida, A. Casella, Ruth H. Walker, Melissa J Nirenberg, A. Renton, Bergan Babrowicz, Giovanni Coppola, T. Raj, Günter U. Höglinger, Ulrich Müller, Lawrence I Golbe, Huw R. Morris, John Hardy, T. Révész, Tom T Warner, Z. Jaunmuktane, K. Mok, R. Rademakers, D. Dickson, Owen A. Ross, Li-San Wang, A. Goate, G. Schellenberg, D. Geschwind, J. Crary, A. Naj

Nature Communications, 2024


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


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


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


New insights into the genetic etiology of Alzheimer’s disease and related dementias


C. Bellenguez, Fahri Küçükali, I. Jansen, L. Kleineidam, S. Moreno-Grau, N. Amin, A. Naj, Rafael Campos-Martin, B. Grenier‐Boley, V. Andrade, P. Holmans, A. Boland, V. Damotte, S. J. van der Lee, M. R. Costa, T. Kuulasmaa, Qiong Yang, I. de Rojas, J. Bis, A. Yaqub, I. Prokić, J. Chapuis, S. Ahmad, V. Giedraitis, D. Aarsland, P. García-González, C. Abdelnour, E. Alarcón‐Martín, D. Alcolea, M. Alegret, I. Álvarez, V. Álvarez, N. Armstrong, A. Tsolaki, C. Antunez, I. Appollonio, M. Arcaro, S. Archetti, A. Pastor, B. Arosio, L. Athanasiu, H. Bailly, N. Banaj, M. Baquero, S. Barral, A. Beiser, A. Pastor, J. Below, Penelope H. Benchek, L. Benussi, C. Berr, C. Besse, Valentina Bessi, G. Binetti, Alessandra Bizarro, R. Blesa, M. Boada, E. Boerwinkle, B. Borroni, S. Boschi, P. Bossù, G. Bråthen, J. Bressler, Catherine Bresner, H. Brodaty, K. Brookes, L. Brusco, D. Buiza‐Rueda, K. Bûrger, V. Burholt, W. Bush, M. Calero, L. Cantwell, G. Chêne, Jaeyoon Chung, M. Cuccaro, Á. Carracedo, R. Cecchetti, Laura Cervera-Carles, C. Charbonnier, Hung-Hsin Chen, C. Chillotti, S. Ciccone, J. Claassen, C. Clark, E. Conti, A. Corma-Gómez, E. Costantini, C. Custodero, D. Daian, M. C. Dalmasso, A. Daniele, E. Dardiotis, J. Dartigues, P. D. de Deyn, Katia de Paiva Lopes, L. D. de Witte, S. Debette, J. Deckert, T. del Ser, N. Denning, A. Destefano, M. Dichgans, J. Diehl-Schmid, M. Diez-Fairen, P. Rossi, S. Djurovic, E. Duron, E. Düzel, C. Dufouil, G. Eiriksdottir, S. Engelborghs, V. Escott-Price, A. Espinosa, M. Ewers, K. Faber, Tagliavini Fabrizio, S. F. Nielsen, D. Fardo, L. Farotti, C. Fenoglio, M. Fernandez-Fuertes, R. Ferrari, Catarina B. Ferreira, E. Ferri, B. Fin, P. Fischer, T. Fladby, K. Fliessbach, Bernard Fongang, M. Fornage, J. Fortea, T. Foroud, Silvia Fostinelli, Nick C Fox, E. Franco-Macías, M. Bullido, A. Frank‐García, L. Froelich, B. Fulton-Howard, D. Galimberti, J. M. García-Alberca, P. García-González, S. García-Madrona, G. García-Ribas, R. Ghidoni, I. Giegling, Giaccone Giorgio, A. Goate, O. Goldhardt, Duber Gomez-Fonseca, A. Gonzáléz-Pérez, C. Graff, G. Grande, E. Green, T. Grimmer, E. Grünblatt, M. Grunin, V. Gudnason, Tamar Guetta‐Baranés, A. Haapasalo, G. Hadjigeorgiou, J. Haines, K. Hamilton-Nelson, H. Hampel, O. Hanon, J. Hardy, A. Hartmann, L. Hausner, J. Harwood, S. Heilmann-Heimbach, S. Helisalmi, M. Heneka, I. Hernández, M. Herrmann, P. Hoffmann, C. Holmes, H. Holstege, Raquel Huerto Vilas, M. Hulsman, J. Humphrey, G. Biessels, X. Jian, C. Johansson, G. Jun, Y. Kastumata, J. Kauwe, P. Kehoe, L. Kilander, A. Ståhlbom, M. Kivipelto, A. Koivisto, J. Kornhuber, M. Kosmidis, W. Kukull, Pavel P. Kuksa, B. Kunkle, A. Kuzma, C. Lage, E. Laukka, L. Launer, A. Lauria, Chien-Yueh Lee, J. Lehtisalo, O. Lerch, A. Lleó, W. Longstreth, O. Lopez, A. L. de Munain, S. Love, Malin Löwemark, L. Luckcuck, K. Lunetta, Yiyi Ma, J. Macías, C. MacLeod, W. Maier, F. Mangialasche, M. Spallazzi, M. Marquié, R. Marshall, E. R. Martin, Angel Martin Montes, Carmen Martínez Rodríguez, C. Masullo, R. Mayeux, S. Mead, P. Mecocci, M. Medina, A. Meggy, S. Mehrabian, S. Mendoza, M. Menéndez-González, P. Mir, S. Moebus, M. Mol, L. Molina-Porcel, L. Montrreal, L. Morelli, F. Moreno, K. Morgan, T. Mosley, M. Nöthen, C. Muchnik, S. Mukherjee, B. Nacmias, T. Ngandu, G. Nicolas, B. Nordestgaard, R. Olaso, A. Orellana, Michela Orsini, G. Ortega, A. Padovani, Caffarra Paolo, G. Papenberg, L. Parnetti, F. Pasquier, P. Pastor, G. Peloso, A. Pérez-Cordón, J. Pérez-Tur, Pierre Pericard, O. Peters, Y. Pijnenburg, J. Pineda, G. Piñol-Ripoll, C. Pisanu, T. Polak, J. Popp, D. Posthuma, J. Priller, R. Puerta, O. Quenez, I. Quintela, J. Thomassen, A. Rábano, I. Rainero, F. Rajabli, I. Ramakers, L. Real, M. Reinders, C. Reitz, D. Reyes-Dumeyer, P. Ridge, S. Riedel-Heller, P. Riederer, N. Roberto, E. Rodríguez-Rodríguez, A. Rongve, I. Allende, M. Rosende-Roca, J. Royo, E. Rubino, D. Rujescu, M. Sáez, P. Sakka, I. Saltvedt, Á. Sanabria, M. B. Sánchez-Arjona, F. Sánchez-García, P. S. Juan, R. Sánchez-Valle, S. Sando, C. Sarnowski, C. Satizabal, M. Scamosci, N. Scarmeas, E. Scarpini, P. Scheltens, N. Scherbaum, M. Scherer, M. Schmid, A. Schneider, J. Schott, G. Selbæk, D. Seripa, M. Serrano, Jin Sha, A. Shadrin, O. Skrobot, S. Slifer, G. Snijders, H. Soininen, V. Solfrizzi, A. Solomon, Yeunjoo E. Song, S. Sorbi, O. Sotolongo-Grau, G. Spalletta, A. Spottke, A. Squassina, E. Stordal, Juan Pablo Tartan, L. Tárraga, N. Tesi, A. Thalamuthu, Tegos Thomas, G. Tosto, L. Traykov, L. Tremolizzo, A. Tybjærg-Hansen, A. Uitterlinden, Abbe Ullgren, I. Ulstein, S. Valero, O. Valladares, C. Broeckhoven, J. Vance, B. Vardarajan, A. van der Lugt, Jasper Van Dongen, Jeroen G J van Rooij, J. V. van Swieten, R. Vandenberghe, F. Verhey, J. Vidal, Jonathan S. Vogelgsang, M. Vyhnálek, Michael Wagner, D. Wallon, Li-San Wang, Ruiqi Wang, L. Weinhold, J. Wiltfang, Gill Windle, B. Woods, M. Yannakoulia, Habil Zare, Yi Zhao, Xiaoling Zhang, Congcong Zhu, M. Zulaica, L. Farrer, B. Psaty, M. Ghanbari, T. Raj, P. Sachdev, K. Mather, F. Jessen, M. A. Ikram, A. de Mendonça, J. Hort, M. Tsolaki, M. Pericak-Vance, P. Amouyel, Julie Williams, R. Frikke-Schmidt, J. Clarimón, J. Deleuze, G. Rossi, S. Seshadri, O. Andreassen, M. Ingelsson, M. Hiltunen, K. Sleegers, G. Schellenberg, C. V. van Duijn, R. Sims, W. M. van der Flier, A. Ruiz, A. Ramírez, J. Lambert

Nature Genetics, 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


Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease


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


HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing


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


Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions


Rahat Hasan, J. Humphrey, C. Bettencourt, J. Newcombe, T. Lashley, P. Fratta, T. Raj

Acta Neuropathologica, 2021


Biallelic Expansion of an intronic Repeat in the RFC1 Gene is a common cause 1 of Late-Onset Ataxia 2


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

2020


FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention


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


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


Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer’s disease susceptibility


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


Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis


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


Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice


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