| 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 | 1043 | 2022 |
| 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 | 631 | 2018 |
| 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 | 429 | 2019 |
| 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 | 342 | 2018 |
| 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 | 256* | 2022 |
| 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 | 157 | 2018 |
| Prioritizing Parkinson’s disease genes using population-scale transcriptomic data YI Li, G Wong, J Humphrey, T Raj Nature communications 10 (1), 994, 2019 | 156 | 2019 |
| 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 | 137 | 2020 |
| 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 | 133 | 2022 |
| 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 | 122 | 2017 |
| 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 | 102 | 2017 |
| 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 | 89 | 2018 |
| 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 | 83* | 2020 |
| 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 | 69 | 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, JT Herb, K de Paiva Lopes, ... Nature Neuroscience 26 (1), 150-162, 2023 | 50 | 2023 |
| 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 | 48 | 2021 |
| 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 | 47 | 2018 |
| 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 | 30 | 2021 |
| Weighted burden analysis of exome-sequenced case-control sample implicates synaptic genes in schizophrenia aetiology D Curtis, L Coelewij, SH Liu, J Humphrey, R Mott Behavior genetics 48, 198-208, 2018 | 27 | 2018 |
| echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline BM Schilder, J Humphrey, T Raj Bioinformatics 38 (2), 536-539, 2022 | 26 | 2022 |
Towfique RajIcahn School of Medicine at Mount Sinai在 mssm.edu 的电子邮件经过验证
