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Mariana Buongermino Pereira
Mariana Buongermino Pereira
Verifierad e-postadress på gsk.com
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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
1112018
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
602020
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
572021
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
502022
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
482016
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
432012
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), 1-13, 2021
222021
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
212019
The resistomes of six carbapenem-resistant pathogens–a critical genotype–phenotype analysis
A Johnning, N Karami, ET Hallbäck, V Müller, L Nyberg, MB Pereira, ...
Microbial genomics 4 (11), 2018
202018
Computational and statistical considerations in the analysis of metagenomic data
F Boulund, MB Pereira, V Jonsson, E Kristiansson
Metagenomics, 81-102, 2018
202018
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
192020
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
182016
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
152021
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
132022
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
122022
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
102021
Differences in the Binding Affinities of ErbB Family: Heterogeneity in the Prediction of Resistance Mutants
M Pereira, CS Verma, G Fuentes
PLoS ONE 8 (10), e77054, 2013
102013
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
I Van Gucht, JAN Meester, JR Bento, M Bastiaansen, J Bastianen, ...
The American Journal of Human Genetics 108 (6), 1115-1125, 2021
92021
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
82022
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
H Hengel, SB Hannan, S Dyack, SB MacKay, U Schatz, M Fleger, ...
The American Journal of Human Genetics 108 (6), 1069-1082, 2021
62021
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Artiklar 1–20