| Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 V Pejaver, J Urresti, J Lugo-Martinez, KA Pagel, GN Lin, HJ Nam, M Mort, ... Nature communications 11 (1), 5918, 2020 | 503 | 2020 |
| Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria V Pejaver, AB Byrne, BJ Feng, KA Pagel, SD Mooney, R Karchin, ... The American Journal of Human Genetics 109 (12), 2163-2177, 2022 | 143 | 2022 |
| High-throughput prediction of MHC class I and II neoantigens with MHCnuggets XM Shao, R Bhattacharya, J Huang, IKA Sivakumar, C Tokheim, L Zheng, ... Cancer immunology research 8 (3), 396-408, 2020 | 117 | 2020 |
| Integrated informatics analysis of cancer-related variants KA Pagel, R Kim, K Moad, B Busby, L Zheng, C Tokheim, M Ryan, ... JCO clinical cancer informatics 4, 310-317, 2020 | 73 | 2020 |
| When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants KA Pagel, V Pejaver, GN Lin, HJ Nam, M Mort, DN Cooper, J Sebat, ... Bioinformatics 33 (14), i389-i398, 2017 | 73 | 2017 |
| Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges R Daneshjou, Y Wang, Y Bromberg, S Bovo, PL Martelli, G Babbi, ... Human mutation 38 (9), 1182-1192, 2017 | 47 | 2017 |
| Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome KA Pagel, D Antaki, AJ Lian, M Mort, DN Cooper, J Sebat, LM Iakoucheva, ... PLoS computational biology 15 (6), e1007112, 2019 | 46 | 2019 |
| The loss and gain of functional amino acid residues is a common mechanism causing human inherited disease J Lugo-Martinez, V Pejaver, KA Pagel, S Jain, M Mort, DN Cooper, ... PLoS computational biology 12 (8), e1005091, 2016 | 25 | 2016 |
| Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria V Pejaver, AB Byrne, BJ Feng, KA Pagel, SD Mooney, R Karchin, ... bioRxiv, 2022.03. 17.484479, 2022 | 21 | 2022 |
| Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants MS Cline, G Babbi, S Bonache, Y Cao, R Casadio, X de la Cruz, O Díez, ... Human Mutation 40 (9), 1546-1556, 2019 | 19 | 2019 |
| Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge M Carraro, AM Monzon, L Chiricosta, F Reggiani, MC Aspromonte, ... Human mutation 40 (9), 1330-1345, 2019 | 17 | 2019 |
| MutPred2: inferring the molecular and phenotypic impact of amino acid variants. bioRxiv 134981 V Pejaver, J Urresti, J Lugo-Martinez, KA Pagel, GN Lin, HJ Nam, M Mort, ... URL: https://www. biorxiv. org/content/early/2017/05/09/134981, 2017 | 13 | 2017 |
| MutPred2: inferring the molecular and phenotypic impact of amino acid variants. BioRxiv. 2017; 134981 V Pejaver, J Urresti, J Lugo-Martinez, KA Pagel, GN Lin, HJ Nam, M Mort, ... | 13 | |
| Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges G McInnes, R Daneshjou, P Katsonis, O Lichtarge, R Srinivasan, S Rana, ... Human mutation 40 (9), 1314-1320, 2019 | 12 | 2019 |
| Association of genetic predisposition and physical activity with risk of gestational diabetes in nulliparous women KA Pagel, H Chu, R Ramola, RF Guerrero, JH Chung, S Parry, UM Reddy, ... JAMA network open 5 (8), e2229158-e2229158, 2022 | 11 | 2022 |
| ClinGen Sequence Variant Interpretation Working Group. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3 … V Pejaver, AB Byrne, BJ Feng, KA Pagel, SD Mooney, R Karchin, ... Am. J. Hum. Genet. 109, 2163-2177, 2022 | 11 | 2022 |
| Genetic modifiers of cystic fibrosis lung disease severity: whole-genome analysis of 7,840 patients YH Zhou, PJ Gallins, RG Pace, H Dang, MA Aksit, EE Blue, ... American journal of respiratory and critical care medicine 207 (10), 1324-1333, 2023 | 9 | 2023 |
| Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis MA Aksit, H Ling, RG Pace, KS Raraigh, F Onchiri, AV Faino, K Pagel, ... The American Journal of Human Genetics 109 (10), 1894-1908, 2022 | 7 | 2022 |
| The sequencing and interpretation of the genome obtained from a Serbian individual W Mohammed Ismail, KA Pagel, V Pejaver, SV Zhang, S Casasa, M Mort, ... Plos one 13 (12), e0208901, 2018 | 3 | 2018 |
| 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 |
