| Substitution mutational signatures in whole-genome–sequenced cancers in the UK population A Degasperi, X Zou, T Dias Amarante, A Martinez-Martinez, GCC Koh, ... Science 376 (6591), abl9283, 2022 | 151 | 2022 |
| Comparison of normalization methods for the analysis of metagenomic gene abundance data MB Pereira, M Wallroth, V Jonsson, E Kristiansson BMC genomics 19, 1-17, 2018 | 145 | 2018 |
| A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage X Zou, GCC Koh, AS Nanda, A Degasperi, K Urgo, TI Roumeliotis, ... Nature cancer 2 (6), 643-657, 2021 | 110 | 2021 |
| Genome-wide plasma DNA methylation features of metastatic prostate cancer A Wu, P Cremaschi, D Wetterskog, V Conteduca, GM Franceschini, ... The Journal of clinical investigation 130 (4), 1991-2000, 2020 | 79 | 2020 |
| Strategies to improve usability and preserve accuracy in biological sequence databases J Bengtsson‐Palme, F Boulund, R Edström, A Feizi, A Johnning, ... Proteomics 16 (18), 2454-2460, 2016 | 52 | 2016 |
| Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma CL Jones, A Degasperi, V Grandi, TD Amarante, TJ Mitchell, S Nik-Zainal, ... Scientific reports 11 (1), 3962, 2021 | 44 | 2021 |
| A novel method to discover fluoroquinolone antibiotic resistance (qnr) genes in fragmented nucleotide sequences F Boulund, A Johnning, MB Pereira, DGJ Larsson, E Kristiansson BMC genomics 13, 1-9, 2012 | 43 | 2012 |
| Signatures of TOP1 transcription-associated mutagenesis in cancer and germline MAM Reijns, DA Parry, TC Williams, F Nadeu, RL Hindshaw, ... Nature 602 (7898), 623-631, 2022 | 40 | 2022 |
| Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis A Shoemark, H Griffin, G Wheway, C Hogg, JS Lucas, C Camps, J Taylor, ... European Respiratory Journal 60 (5), 2022 | 35 | 2022 |
| A comprehensive survey of integron-associated genes present in metagenomes M Buongermino Pereira, T Österlund, KM Eriksson, T Backhaus, ... BMC genomics 21, 1-14, 2020 | 34 | 2020 |
| The resistomes of six carbapenem-resistant pathogens–a critical genotype–phenotype analysis A Johnning, N Karami, E Tång Hallbäck, V Müller, L Nyberg, ... Microbial genomics 4 (11), e000233, 2018 | 28 | 2018 |
| An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy AT Pagnamenta, R Kaiyrzhanov, Y Zou, SI Da'as, R Maroofian, ... Brain 144 (2), 584-600, 2021 | 27 | 2021 |
| Computational and statistical considerations in the analysis of metagenomic data F Boulund, MB Pereira, V Jonsson, E Kristiansson Metagenomics, 81-102, 2018 | 25 | 2018 |
| Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme A Sosinsky, J Ambrose, W Cross, C Turnbull, S Henderson, L Jones, ... Nature Medicine 30 (1), 279-289, 2024 | 24 | 2024 |
| Accurate and Sensitive Analysis of Minimal Residual Disease in Acute Myeloid Leukemia Using Deep Sequencing of Single Nucleotide Variations ED Malmberg, A Rehammar, MB Pereira, J Abrahamsson, T Samuelsson, ... The Journal of Molecular Diagnostics 21 (1), 149-162, 2019 | 24 | 2019 |
| HattCI: Fast and Accurate attC site Identification Using Hidden Markov Models MB Pereira, M Wallroth, E Kristiansson, M Axelson-Fisk Journal of Computational Biology 23 (11), 891-902, 2016 | 22 | 2016 |
| REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats E Dolzhenko, B Weisburd, K Ibañez, IS Rajan-Babu, C Anyansi, ... Genome medicine 14 (1), 84, 2022 | 21 | 2022 |
| SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile R Al-Jawahiri, A Foroutan, J Kerkhof, H McConkey, M Levy, ... Genetics in medicine 24 (6), 1261-1273, 2022 | 20 | 2022 |
| Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project S Best, J Lord, M Roche, CM Watson, JA Poulter, RPJ Bevers, A Stuckey, ... Journal of Medical Genetics 59 (8), 737-747, 2022 | 18 | 2022 |
| Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis Z Hyder, E Calpena, Y Pei, RS Tooze, H Brittain, SRF Twigg, D Cilliers, ... Genetics in Medicine 23 (12), 2360-2368, 2021 | 17 | 2021 |
Erik KristianssonChalmers University of Technology, Sweden在 chalmers.se 的电子邮件经过验证
