| The role of exome sequencing in newborn screening for inborn errors of metabolism AN Adhikari, RC Gallagher, Y Wang, RJ Currier, G Amatuni, ... Nature medicine 26 (9), 1392-1397, 2020 | 159 | 2020 |
| Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B D Punwani, Y Zhang, J Yu, MJ Cowan, S Rana, A Kwan, AN Adhikari, ... New England Journal of Medicine 375 (22), 2165-2176, 2016 | 117 | 2016 |
| The use of whole genome and exome sequencing for newborn screening: challenges and opportunities for population health AC Woerner, RC Gallagher, J Vockley, AN Adhikari Frontiers in Pediatrics 9, 663752, 2021 | 64 | 2021 |
| Heterogeneous dynamics and dynamic heterogeneities at the glass transition probed with single molecule spectroscopy AN Adhikari, NA Capurso, D Bingemann The Journal of chemical physics 127 (11), 2007 | 55 | 2007 |
| De novo prediction of protein folding pathways and structure using the principle of sequential stabilization AN Adhikari, KF Freed, TR Sosnick Proceedings of the National Academy of Sciences 109 (43), 17442-17447, 2012 | 50 | 2012 |
| Opportunities and challenges for the computational interpretation of rare variation in clinically important genes G McInnes, AG Sharo, ML Koleske, JEH Brown, M Norstad, AN Adhikari, ... The American Journal of Human Genetics 108 (4), 535-548, 2021 | 47 | 2021 |
| The landscape of tolerated genetic variation in humans and primates H Gao, T Hamp, J Ede, JG Schraiber, J McRae, M Singer-Berk, Y Yang, ... Science 380 (6648), eabn8153, 2023 | 45 | 2023 |
| Integration of Multiple Epigenomic Marks Improves Prediction of Variant Impact in Saturation Mutagenesis Reporter Assay D Shigaki, O Adato, AN Adhikari, S Dong, A Hawkins‐Hooker, F Inoue, ... Human mutation, 2019 | 44 | 2019 |
| Modeling large regions in proteins: Applications to loops, termini, and folding AN Adhikari, J Peng, M Wilde, J Xu, KF Freed, TR Sosnick Protein Science 21 (1), 107-121, 2012 | 36 | 2012 |
| Simplified protein models: Predicting folding pathways and structure using amino acid sequences AN Adhikari, KF Freed, TR Sosnick Physical review letters 111 (2), 028103, 2013 | 35 | 2013 |
| VIPdb, a genetic variant impact predictor database Z Hu, C Yu, M Furutsuki, G Andreoletti, M Ly, R Hoskins, AN Adhikari, ... Human mutation 40 (9), 1202-1214, 2019 | 31 | 2019 |
| The folding transition state of protein L is extensive with nonnative interactions (and not small and polarized) TY Yoo, A Adhikari, Z Xia, T Huynh, KF Freed, R Zhou, TR Sosnick Journal of molecular biology 420 (3), 220-234, 2012 | 30 | 2012 |
| Even with nonnative interactions, the updated folding transition states of the homologs Proteins G & L are extensive and similar MC Baxa, W Yu, AN Adhikari, L Ge, Z Xia, R Zhou, KF Freed, TR Sosnick Proceedings of the National Academy of Sciences 112 (27), 8302-8307, 2015 | 24 | 2015 |
| Genomic analysis of historical cases with positive newborn screens for short-chain acyl-CoA dehydrogenase deficiency shows that a validated second-tier biochemical test can … AN Adhikari, RJ Currier, H Tang, CT Turgeon, RL Nussbaum, ... International journal of neonatal screening 6 (2), 41, 2020 | 12 | 2020 |
| CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases L Kasak, JM Hunter, R Udani, C Bakolitsa, Z Hu, AN Adhikari, G Babbi, ... Human Mutation 40 (9), 1373-1391, 2019 | 11 | 2019 |
| Gene‐specific features enhance interpretation of mutational impact on acid α‐glucosidase enzyme activity AN Adhikari Human mutation 40 (9), 1507-1518, 2019 | 10 | 2019 |
| Lessons from the CAGI‐4 Hopkins clinical panel challenge JM Chandonia, AN Adhikari, M Carraro, A Chhibber, GR Cutting, Y Fu, ... Human mutation 38 (9), 1155-1168, 2017 | 9 | 2017 |
| ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden AG Sharo, Y Zou, AN Adhikari, SE Brenner Genome medicine 15 (1), 51, 2023 | 8 | 2023 |
| Nepali image captioning A Adhikari, S Ghimire 2019 Artificial Intelligence for Transforming Business and Society (AITB) 1, 1-6, 2019 | 7 | 2019 |
| Perturbation robustness analyses reveal important parameters in variant interpretation pipelines Y Wang, AN Adhikari, U Sunderam, MN Kvale, RJ Currier, RC Gallagher, ... bioRxiv, 2020.06. 29.173815, 2020 | 2 | 2020 |
Steven E. BrennerUniversity of California, BerkeleyZweryfikowany adres z berkeley.edu
