Pathogenic variants that alter protein code often disrupt splicing R Soemedi, KJ Cygan, CL Rhine, J Wang, C Bulacan, J Yang, ... Nature genetics 49 (6), 848-855, 2017 | 194 | 2017 |
The importance of p53 pathway genetics in inherited and somatic cancer genomes G Stracquadanio, X Wang, MD Wallace, AM Grawenda, P Zhang, J Hewitt, ... Nature reviews Cancer 16 (4), 251-265, 2016 | 163 | 2016 |
MMSplice: modular modeling improves the predictions of genetic variant effects on splicing J Cheng, TYD Nguyen, KJ Cygan, MH Çelik, WG Fairbrother, Ž Avsec, ... Genome biology 20, 1-15, 2019 | 160 | 2019 |
RNA-binding proteins: splicing factors and disease AM Fredericks, KJ Cygan, BA Brown, WG Fairbrother Biomolecules 5 (2), 893-909, 2015 | 101 | 2015 |
Intratumoral dendritic cell–CD4+ T helper cell niches enable CD8+ T cell differentiation following PD-1 blockade in hepatocellular carcinoma A Magen, P Hamon, N Fiaschi, BY Soong, MD Park, R Mattiuz, E Humblin, ... Nature medicine 29 (6), 1389-1399, 2023 | 62 | 2023 |
Hereditary cancer genes are highly susceptible to splicing mutations CL Rhine, KJ Cygan, R Soemedi, S Maguire, MF Murray, SF Monaghan, ... PLoS genetics 14 (3), e1007231, 2018 | 54 | 2018 |
The effects of structure on pre-mRNA processing and stability R Soemedi, KJ Cygan, CL Rhine, DT Glidden, AJ Taggart, CL Lin, ... Methods 125, 36-44, 2017 | 52 | 2017 |
Widespread intra-dependencies in the removal of introns from human transcripts SW Kim, AJ Taggart, C Heintzelman, KJ Cygan, CG Hull, J Wang, ... Nucleic Acids Research 45 (16), 9503-9513, 2017 | 48 | 2017 |
RNA structure replaces the need for U2AF2 in splicing CL Lin, AJ Taggart, KH Lim, KJ Cygan, L Ferraris, R Creton, YT Huang, ... Genome research 26 (1), 12-23, 2016 | 30 | 2016 |
Mutational bias and the protein code shape the evolution of splicing enhancers S Rong, L Buerer, CL Rhine, J Wang, KJ Cygan, WG Fairbrother Nature communications 11 (1), 2845, 2020 | 23 | 2020 |
Changes in the process of alternative RNA splicing results in soluble B and T lymphocyte attenuator with biological and clinical implications in critical illness SF Monaghan, D Banerjee, CS Chung, J Lomas-Neira, KJ Cygan, ... Molecular Medicine 24, 1-7, 2018 | 22 | 2018 |
Future directions for high‐throughput splicing assays in precision medicine CL Rhine, C Neil, DT Glidden, KJ Cygan, AM Fredericks, J Wang, ... Human mutation 40 (9), 1225-1234, 2019 | 17 | 2019 |
Baseline biomarkers of T-cell function correlate with clinical responses to odronextamab (REGN1979), and loss of CD20 target antigen expression identified as a mechanism of … J Brouwer-Visser, N Fiaschi, RP Deering, A Dhanik, KJ Cygan, W Zhang, ... Blood 136, 10-11, 2020 | 11 | 2020 |
Intratumoral mregDC and CXCL13 T helper niches enable local differentiation of CD8 T cells following PD-1 blockade A Magen, P Hamon, N Fiaschi, L Troncoso, E Humblin, D D’souza, ... BioRxiv, 2022.06. 22.497216, 2022 | 8 | 2022 |
Spliceman2: a computational web server that predicts defects in pre-mRNA splicing KJ Cygan, CH Sanford, WG Fairbrother Bioinformatics 33 (18), 2943-2945, 2017 | 8 | 2017 |
Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas KJ Cygan, R Soemedi, CL Rhine, A Profeta, EL Murphy, MF Murray, ... Human genetics 136, 1303-1312, 2017 | 8 | 2017 |
Avsec, žiga, & Gagneur, J.(2019). MMSplice: modular modeling improves the predictions of genetic variant effects on splicing J Cheng, TYD Nguyen, KJ Cygan, MH Çelik, WG Fairbrother Genome Biology 20 (1), 48, 0 | 5 | |
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes Z Wang, X Fan, Y Shen, MS Pagadala, R Signer, KJ Cygan, ... Genome medicine 13, 1-13, 2021 | 4 | 2021 |
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods N Null, S Jain, C Bakolitsa, SE Brenner, P Radivojac, J Moult, S Repo, ... Genome Biology 25 (1), 1-46, 2024 | 2 | 2024 |
Clinical responses to odronextamab (regn1979): correlation with loss of cd20 expression as a potential mechanism of resistance and baseline biomarkers of tumor T cells J Brouwer‐Visser, N Fiaschi, RP Deering, A Dhanik, KJ Cygan, W Zhang, ... Hematological Oncology 39, 2021 | 1 | 2021 |