| Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome AM Wenger, P Peluso, WJ Rowell, PC Chang, RJ Hall, GT Concepcion, ... Nature biotechnology 37 (10), 1155-1162, 2019 | 1550 | 2019 |
| Structural variant calling: the long and the short of it M Mahmoud, N Gobet, DI Cruz-Dávalos, N Mounier, C Dessimoz, ... Genome biology 20, 1-14, 2019 | 642 | 2019 |
| Chromosome-scale, haplotype-resolved assembly of human genomes S Garg, A Fungtammasan, A Carroll, M Chou, A Schmitt, X Zhou, S Mac, ... Nature biotechnology 39 (3), 309-312, 2021 | 183 | 2021 |
| Curated variation benchmarks for challenging medically relevant autosomal genes J Wagner, ND Olson, L Harris, J McDaniel, H Cheng, A Fungtammasan, ... Nature biotechnology 40 (5), 672-680, 2022 | 166 | 2022 |
| Benchmarking challenging small variants with linked and long reads J Wagner, ND Olson, L Harris, Z Khan, J Farek, M Mahmoud, A Stankovic, ... Cell genomics 2 (5), 2022 | 152 | 2022 |
| Detection of mosaic and population-level structural variants with Sniffles2 M Smolka, LF Paulin, CM Grochowski, DW Horner, M Mahmoud, ... Nature biotechnology, 1-10, 2024 | 126 | 2024 |
| Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study J Foox, SW Tighe, CM Nicolet, JM Zook, M Byrska-Bishop, WE Clarke, ... Nature biotechnology 39 (9), 1129-1140, 2021 | 103 | 2021 |
| Comprehensive structural variant detection: from mosaic to population-level M Smolka, LF Paulin, CM Grochowski, DW Horner, M Mahmoud, ... BioRxiv, 2022.04. 04.487055, 2022 | 94 | 2022 |
| Parliament2: Accurate structural variant calling at scale S Zarate, A Carroll, M Mahmoud, O Krasheninina, G Jun, WJ Salerno, ... GigaScience 9 (12), giaa145, 2020 | 71 | 2020 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 64 | 2023 |
| Efficiency of PacBio long read correction by 2nd generation Illumina sequencing M Mahmoud, M Zywicki, T Twardowski, WM Karlowski Genomics 111 (1), 43-49, 2019 | 59 | 2019 |
| Utility of long-read sequencing for All of Us M Mahmoud, Y Huang, K Garimella, PA Audano, W Wan, N Prasad, ... Nature communications 15 (1), 837, 2024 | 46 | 2024 |
| Intratumoral heterogeneity and clonal evolution induced by HPV integration K Akagi, DE Symer, M Mahmoud, B Jiang, S Goodwin, D Wangsa, Z Li, ... Cancer discovery 13 (4), 910-927, 2023 | 46 | 2023 |
| SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmission N Sapoval, M Mahmoud, MD Jochum, Y Liu, RAL Elworth, Q Wang, ... Genome research 31 (4), 635-644, 2021 | 36 | 2021 |
| PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation M Mahmoud, H Doddapaneni, W Timp, FJ Sedlazeck Genome biology 22, 1-17, 2021 | 34 | 2021 |
| Rescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing data Y Liu, J Kearney, M Mahmoud, B Kille, FJ Sedlazeck, TJ Treangen Nature communications 13 (1), 1321, 2022 | 28 | 2022 |
| Genome‐wide analysis of structural variants in Parkinson disease KJ Billingsley, J Ding, PA Jerez, A Illarionova, K Levine, FP Grenn, ... Annals of neurology 93 (5), 1012-1022, 2023 | 27 | 2023 |
| Hidden genomic diversity of SARS-CoV-2: implications for qRT-PCR diagnostics and transmission N Sapoval, M Mahmoud, MD Jochum, Y Liu, RAL Elworth, Q Wang, ... BioRxiv, 2020 | 22 | 2020 |
| Approaches to whole mitochondrial genome sequencing on the Oxford Nanopore MinION RR Zascavage, CL Hall, K Thorson, M Mahmoud, FJ Sedlazeck, JV Planz Current Protocols in Human Genetics 104 (1), e94, 2019 | 22 | 2019 |
| Molecular variation of Potato virus Y isolated from Egypt EA El-Absawy, A Mahmoud, AA Hemeida, M Helmy International Journal of Virology 8 (1), 81-89, 2012 | 21 | 2012 |
Fritz J SedlazeckHuman Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030Adresse e-mail validée de bcm.edu
