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Jack Humphrey
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New insights into the genetic etiology of Alzheimer’s disease and related dementias
C Bellenguez, F Küçükali, IE Jansen, L Kleineidam, S Moreno-Grau, ...
Nature genetics 54 (4), 412-436, 2022
14032022
Annotation-free quantification of RNA splicing using LeafCutter
YI Li, DA Knowles, J Humphrey, AN Barbeira, SP Dickinson, HK Im, ...
Nature genetics 50 (1), 151-158, 2018
6692018
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
A Cortese, R Simone, R Sullivan, J Vandrovcova, H Tariq, WY Yau, ...
Nature genetics 51 (4), 649-658, 2019
4722019
Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer’s disease susceptibility
T Raj, YI Li, G Wong, J Humphrey, M Wang, S Ramdhani, YC Wang, B Ng, ...
Nature genetics 50 (11), 1584-1592, 2018
3722018
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
AL Brown, OG Wilkins, MJ Keuss, SE Hill, M Zanovello, WC Lee, ...
Nature 603 (7899), 131-137, 2022
297*2022
Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies
KP Lopes, GJL Snijders, J Humphrey, A Allan, MAM Sneeboer, E Navarro, ...
Nature genetics 54 (1), 4-17, 2022
1692022
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, ...
The EMBO journal 37 (11), e98684, 2018
1652018
Prioritizing Parkinson’s disease genes using population-scale transcriptomic data
YI Li, G Wong, J Humphrey, T Raj
Nature communications 10 (1), 994, 2019
1642019
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia
M Prudencio, J Humphrey, S Pickles, AL Brown, SE Hill, JM Kachergus, ...
The Journal of clinical investigation 130 (11), 2020
1562020
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’knockin mice
A Devoy, B Kalmar, M Stewart, H Park, B Burke, SJ Noy, Y Redhead, ...
Brain 140 (11), 2797-2805, 2017
1272017
Quantitative analysis of cryptic splicing associated with TDP-43 depletion
J Humphrey, W Emmett, P Fratta, AM Isaacs, V Plagnol
BMC medical genomics 10, 1-17, 2017
1092017
A transcriptomic signature of the hypothalamic response to fasting and BDNF deficiency in Prader-Willi syndrome
EG Bochukova, K Lawler, S Croizier, JM Keogh, N Patel, G Strohbehn, ...
Cell reports 22 (13), 3401-3408, 2018
992018
Genetics of the human microglia regulome refines Alzheimer’s disease risk loci
R Kosoy, JF Fullard, B Zeng, J Bendl, P Dong, S Rahman, SP Kleopoulos, ...
Nature genetics 54 (8), 1145-1154, 2022
942022
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention
J Humphrey, N Birsa, C Milioto, M McLaughlin, AM Ule, D Robaldo, ...
Nucleic acids research 48 (12), 6889-6905, 2020
902020
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes
J Humphrey, S Venkatesh, R Hasan, JT Herb, K de Paiva Lopes, ...
Nature Neuroscience 26 (1), 150-162, 2023
652023
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation
N Birsa, AM Ule, MG Garone, B Tsang, F Mattedi, PA Chong, J Humphrey, ...
Science Advances 7 (30), eabf8660, 2021
542021
A novel human pain insensitivity disorder caused by a point mutation in ZFHX2
AM Habib, A Matsuyama, AL Okorokov, S Santana-Varela, JT Bras, ...
Brain 141 (2), 365-376, 2018
532018
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, D Bhattacharya, S Foti, ...
Acta neuropathologica 142, 609-627, 2021
352021
Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology
OJ Ziff, J Neeves, J Mitchell, G Tyzack, C Martinez-Ruiz, R Luisier, ...
Nature Communications 14 (1), 2176, 2023
31*2023
Dysregulation of mitochondrial and proteolysosomal genes in Parkinson’s disease myeloid cells
E Navarro, E Udine, KP Lopes, M Parks, G Riboldi, BM Schilder, ...
Nature aging 1 (9), 850-863, 2021
29*2021
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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