| Year |
Citation |
Score |
| 2024 |
Roussos P, Kosoy R, Fullard J, Bendl J, Kleopoulos S, Shao Z, Argyriou S, Mathur D, Vicari J, Ma Y, Humphrey J, Brophy E, Raj T, Katsel P, Voloudakis G, et al. Alzheimer's disease transcriptional landscape in ex-vivo human microglia. Research Square. PMID 38343831 DOI: 10.21203/rs.3.rs-3851590/v1 |
0.349 |
|
| 2024 |
Bryce-Smith S, Brown AL, Mehta PR, Mattedi F, Mikheenko A, Barattucci S, Zanovello M, Dattilo D, Yome M, Hill SE, Qi YA, Wilkins OG, Sun K, Ryadnov E, Wan Y, ... ... Humphrey J, et al. TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTD. Biorxiv : the Preprint Server For Biology. PMID 38313254 DOI: 10.1101/2024.01.22.576625 |
0.365 |
|
| 2023 |
Humphrey J, Brophy E, Kosoy R, Zeng B, Coccia E, Mattei D, Ravi A, Efthymiou AG, Navarro E, Muller BZ, Snijders GJ, Allan A, Münch A, Kitata RB, Kleopoulos SP, et al. Long-read RNA-seq atlas of novel microglia isoforms elucidates disease-associated genetic regulation of splicing. Medrxiv : the Preprint Server For Health Sciences. PMID 38076956 DOI: 10.1101/2023.12.01.23299073 |
0.691 |
|
| 2023 |
Snijders GJLJ, de Paiva Lopes K, Sneeboer MAM, Muller BZ, Gigase FAJ, Vialle RA, Missall R, Kubler R, Raj T, Humphrey J, de Witte LD. The human microglia responsome: a resource to better understand microglia states in health and disease. Biorxiv : the Preprint Server For Biology. PMID 37873223 DOI: 10.1101/2023.10.12.562067 |
0.662 |
|
| 2023 |
Ditzel RM, Walker RH, Nirenberg MJ, Tetlow AM, Farrell K, Lind-Watson KJ, Thorn EL, Dangoor DK, Gordon R, De Sanctis C, Barton B, Karp BI, Kirby A, Lett DJ, Mente K, ... ... Humphrey J, et al. An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis). Movement Disorders : Official Journal of the Movement Disorder Society. PMID 37670483 DOI: 10.1002/mds.29589 |
0.628 |
|
| 2023 |
Fodder K, Murthy M, Rizzu P, Toomey CE, Hasan R, Humphrey J, Raj T, Lunnon K, Mill J, Heutink P, Lashley T, Bettencourt C. Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes. Acta Neuropathologica. PMID 37149835 DOI: 10.1007/s00401-023-02583-z |
0.727 |
|
| 2022 |
Humphrey J, Venkatesh S, Hasan R, Herb JT, de Paiva Lopes K, Küçükali F, Byrska-Bishop M, Evani US, Narzisi G, Fagegaltier D, Sleegers K, Phatnani H, Knowles DA, Fratta P, Raj T. Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes. Nature Neuroscience. PMID 36482247 DOI: 10.1038/s41593-022-01205-3 |
0.738 |
|
| 2022 |
Riboldi GM, Vialle RA, Navarro E, Udine E, de Paiva Lopes K, Humphrey J, Allan A, Parks M, Henderson B, Astudillo K, Argyrou C, Zhuang M, Sikder T, Oriol Narcis J, Kumar SD, et al. Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson's disease. Molecular Neurodegeneration. 17: 52. PMID 35978378 DOI: 10.1186/s13024-022-00554-8 |
0.711 |
|
| 2022 |
Kosoy R, Fullard JF, Zeng B, Bendl J, Dong P, Rahman S, Kleopoulos SP, Shao Z, Girdhar K, Humphrey J, de Paiva Lopes K, Charney AW, Kopell BH, Raj T, Bennett D, et al. Genetics of the human microglia regulome refines Alzheimer's disease risk loci. Nature Genetics. 54: 1145-1154. PMID 35931864 DOI: 10.1038/s41588-022-01149-1 |
0.654 |
|
| 2022 |
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, ... ... Humphrey J, et al. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nature Genetics. PMID 35379992 DOI: 10.1038/s41588-022-01024-z |
0.64 |
|
| 2022 |
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H, ... ... Humphrey J, et al. TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature. PMID 35197628 DOI: 10.1038/s41586-022-04436-3 |
0.788 |
|
| 2022 |
Lopes KP, Snijders GJL, Humphrey J, Allan A, Sneeboer MAM, Navarro E, Schilder BM, Vialle RA, Parks M, Missall R, van Zuiden W, Gigase FAJ, Kübler R, van Berlekom AB, Hicks EM, et al. Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies. Nature Genetics. 54: 4-17. PMID 34992268 DOI: 10.1038/s41588-021-00976-y |
0.668 |
|
| 2021 |
Navarro E, Udine E, de Paiva Lopes K, Parks M, Riboldi G, Schilder BM, Humphrey J, Snijders GJL, Vialle RA, Zhuang M, Sikder T, Argyrou C, Allan A, Chao MJ, Farrell K, et al. Dysregulation of mitochondrial and proteolysosomal genes in Parkinson's disease myeloid cells. Nature Aging. 1: 850-863. PMID 35005630 DOI: 10.1038/s43587-021-00110-x |
0.706 |
|
| 2021 |
Hasan R, Humphrey J, Bettencourt C, Newcombe J, Lashley T, Fratta P, Raj T. Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions. Acta Neuropathologica. PMID 34961893 DOI: 10.1007/s00401-021-02399-9 |
0.779 |
|
| 2021 |
Farrell K, Kim S, Han N, Iida MA, Gonzalez EM, Otero-Garcia M, Walker JM, Richardson TE, Renton AE, Andrews SJ, Fulton-Howard B, Humphrey J, Vialle RA, Bowles KR, de Paiva Lopes K, et al. Genome-wide association study and functional validation implicates JADE1 in tauopathy. Acta Neuropathologica. PMID 34719765 DOI: 10.1007/s00401-021-02379-z |
0.739 |
|
| 2021 |
Schilder BM, Humphrey J, Raj T. echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline. Bioinformatics (Oxford, England). PMID 34529038 DOI: 10.1093/bioinformatics/btab658 |
0.577 |
|
| 2021 |
Birsa N, Ule AM, Garone MG, Tsang B, Mattedi F, Chong PA, Humphrey J, Jarvis S, Pisiren M, Wilkins OG, Nosella ML, Devoy A, Bodo C, de la Fuente RF, Fisher EMC, et al. FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation. Science Advances. 7. PMID 34290090 DOI: 10.1126/sciadv.abf8660 |
0.659 |
|
| 2021 |
Bampton A, Gatt A, Humphrey J, Cappelli S, Bhattacharya D, Foti S, Brown AL, Asi Y, Low YH, Foiani M, Raj T, Buratti E, Fratta P, Lashley T. HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing. Acta Neuropathologica. PMID 34274995 DOI: 10.1007/s00401-021-02340-0 |
0.753 |
|
| 2020 |
Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus J, Shi J, Heckman M, Spiegel M, Cook C, Song Y, Yue M, Daughrity L, Carlomagno Y, Jansen-West K, et al. Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia. The Journal of Clinical Investigation. PMID 32790644 DOI: 10.1172/Jci139741 |
0.785 |
|
| 2020 |
Humphrey J, Birsa N, Milioto C, McLaughlin M, Ule AM, Robaldo D, Eberle AB, Kräuchi R, Bentham M, Brown AL, Jarvis S, Bodo C, Garone MG, Devoy A, Soraru G, et al. FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention. Nucleic Acids Research. PMID 32479602 DOI: 10.1093/Nar/Gkaa410 |
0.78 |
|
| 2019 |
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, et al. Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature Genetics. PMID 31028356 DOI: 10.1038/S41588-019-0422-Y |
0.515 |
|
| 2019 |
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yan YW, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature Genetics. 51: 649-658. PMID 30926972 DOI: 10.1038/S41588-019-0372-4 |
0.612 |
|
| 2019 |
Li YI, Wong G, Humphrey J, Raj T. Prioritizing Parkinson's disease genes using population-scale transcriptomic data. Nature Communications. 10: 994. PMID 30824768 DOI: 10.1038/s41467-019-08912-9 |
0.639 |
|
| 2018 |
Sivakumar P, De Giorgio F, Ule AM, Neeves J, Nair RR, Bentham M, Birsa N, Humphrey J, Plagnol V, Acevedo-Arozena A, Cunningham TJ, Fisher EMC, Fratta P. TDP-43 mutations increase HNRNP A1-7B through gain of splicing function. Brain : a Journal of Neurology. PMID 30364928 DOI: 10.1093/brain/awy260 |
0.654 |
|
| 2018 |
Raj T, Li YI, Wong G, Humphrey J, Wang M, Ramdhani S, Wang YC, Ng B, Gupta I, Haroutunian V, Schadt EE, Young-Pearse T, Mostafavi S, Zhang B, Sklar P, et al. Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer's disease susceptibility. Nature Genetics. PMID 30297968 DOI: 10.1038/S41588-018-0238-1 |
0.685 |
|
| 2018 |
Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, et al. Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. The Embo Journal. PMID 29764981 DOI: 10.15252/Embj.201798684 |
0.777 |
|
| 2018 |
Bochukova EG, Lawler K, Croizier S, Keogh JM, Patel N, Strohbehn G, Lo KK, Humphrey J, Hokken-Koelega A, Damen L, Donze S, Bouret SG, Plagnol V, Farooqi IS. A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome. Cell Reports. 22: 3401-3408. PMID 29590610 DOI: 10.1016/J.Celrep.2018.03.018 |
0.562 |
|
| 2017 |
Li YI, Knowles DA, Humphrey J, Barbeira AN, Dickinson SP, Im HK, Pritchard JK. Annotation-free quantification of RNA splicing using LeafCutter. Nature Genetics. PMID 29229983 DOI: 10.1038/S41588-017-0004-9 |
0.304 |
|
| 2017 |
Devoy A, Kalmar B, Stewart M, Park H, Burke B, Noy SJ, Redhead Y, Humphrey J, Lo K, Jaeger J, Mejia Maza A, Sivakumar P, Bertolin C, Soraru G, Plagnol V, et al. Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice. Brain : a Journal of Neurology. PMID 29053787 DOI: 10.1093/Brain/Awx248 |
0.766 |
|
| 2017 |
Humphrey J, Emmett W, Fratta P, Isaacs AM, Plagnol V. Quantitative analysis of cryptic splicing associated with TDP-43 depletion. Bmc Medical Genomics. 10: 38. PMID 28549443 DOI: 10.1186/S12920-017-0274-1 |
0.776 |
|
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