| High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios M Byrska-Bishop, US Evani, X Zhao, AO Basile, HJ Abel, AA Regier, ... Cell 185 (18), 3426-3440. e19, 2022 | 594 | 2022 |
| Haplotype-resolved diverse human genomes and integrated analysis of structural variation P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin, D Porubsky, MJ Bonder, ... Science 372 (6537), eabf7117, 2021 | 534 | 2021 |
| Artificial intelligence for drug toxicity and safety AO Basile, A Yahi, NP Tatonetti Trends in pharmacological sciences 40 (9), 624-635, 2019 | 290 | 2019 |
| A polygenic and phenotypic risk prediction for polycystic ovary syndrome evaluated by phenome-wide association studies YY Joo, KE Actkins, JA Pacheco, AO Basile, R Carroll, DR Crosslin, F Day, ... The Journal of Clinical Endocrinology & Metabolism 105 (6), 1918-1936, 2020 | 59 | 2020 |
| Informatics and machine learning to define the phenotype AO Basile, MDR Ritchie Expert review of molecular diagnostics 18 (3), 219-226, 2018 | 55 | 2018 |
| PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies MA Hall, J Wallace, A Lucas, D Kim, AO Basile, SS Verma, CA McCarty, ... Nature Communications 8 (1), 1167, 2017 | 34 | 2017 |
| Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, eabf7117 P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin, D Porubsky, MJ Bonder, ... | 32 | 2021 |
| Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico X Zhang, AO Basile, SA Pendergrass, MD Ritchie BMC bioinformatics 20, 1-10, 2019 | 30 | 2019 |
| Phenome-Wide association study to explore relationships between immune system related genetic loci and complex traits and diseases A Verma, AO Basile, Y Bradford, H Kuivaniemi, G Tromp, D Carey, ... PLoS One 11 (8), e0160573, 2016 | 27 | 2016 |
| High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios. bioRxiv M Byrska-Bishop, US Evani, X Zhao, AO Basile, HJ Abel, AA Regier, ... Published online February 7, 2021.02, 2021 | 26 | 2021 |
| Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer’s disease D Kim, AO Basile, L Bang, E Horgusluoglu, S Lee, MD Ritchie, AJ Saykin, ... BMC medical informatics and decision making 17, 1-7, 2017 | 20 | 2017 |
| Phenome-wide association studies: embracing complexity for discovery SA Pendergrass, A Verma, A Okula, MA Hall, DC Crawford, MD Ritchie Human heredity 79 (3-4), 111-123, 2015 | 20 | 2015 |
| A biologically informed method for detecting rare variant associations CCB Moore, AO Basile, JR Wallace, AT Frase, MDR Ritchie BioData mining 9, 1-15, 2016 | 17 | 2016 |
| Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation JA Gustafson, SB Gibson, N Damaraju, MPG Zalusky, K Hoekzema, ... medRxiv, 2024 | 15 | 2024 |
| KNOWLEDGE DRIVEN BINNING AND PHEWAS ANALYSIS IN MARSHFIELD PERSONALIZED MEDICINE RESEARCH PROJECT USING BIOBIN AO Basile, JR Wallace, P Peissig, CA McCarty, M Brilliant, MD Ritchie Pacific Symposium on Biocomputing 21, 249-60, 2016 | 15 | 2016 |
| Novel features and enhancements in BioBin, a tool for the biologically inspired binning and association analysis of rare variants AO Basile, M Byrska-Bishop, J Wallace, AT Frase, MD Ritchie Bioinformatics 34 (3), 527-529, 2018 | 14 | 2018 |
| Retromer dysfunction in amyotrophic lateral sclerosis EJ Pérez-Torres, I Utkina-Sosunova, V Mishra, P Barbuti, ... Proceedings of the National Academy of Sciences 119 (26), e2118755119, 2022 | 12 | 2022 |
| High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation JA Gustafson, SB Gibson, N Damaraju, MPG Zalusky, K Hoekzema, ... Genome Research 34 (11), 2061-2073, 2024 | 5 | 2024 |
| An unsupervised homogenization pipeline for clustering similar patients using electronic health record data A Ulloa, A Basile, GJ Wehner, L Jing, MD Ritchie, B Beaulieu-Jones, ... arXiv preprint arXiv:1801.00065, 2017 | 4 | 2017 |
| Multi-OMIC analysis of Huntington disease reveals a neuroprotective astrocyte state F Paryani, JS Kwon, CW Ng, N Madden, K Ofori, A Tang, H Lu, J Li, ... bioRxiv, 2023 | 3 | 2023 |
Marylyn D RitchieUniversity of PennsylvaniaVerified email at upenn.edu
