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 | 215 | 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 | 126 | 2016 |
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 | 100 | 2023 |
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 | 83 | 2021 |
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 | 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 | 59 | 2007 |
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 | 57 | 2019 |
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 | 52 | 2012 |
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 | 38 | 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<? format?> Using Amino Acid Sequences AN Adhikari, KF Freed, TR Sosnick Physical review letters 111 (2), 028103, 2013 | 35 | 2013 |
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 | 31 | 2012 |
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods Genome biology 25 (1), 53, 2024 | 27 | 2024 |
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 | 25 | 2023 |
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 | 25 | 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 | 14 | 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 | 11 | 2019 |
Nepali image captioning A Adhikari, S Ghimire 2019 Artificial Intelligence for Transforming Business and Society (AITB) 1, 1-6, 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 | 10 | 2017 |