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mattia bosio
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Year
Pan-cancer analysis of whole genomes
Nature 578 (7793), 82-93, 2020
1670*2020
Spatial organization of osteoblast fibronectin matrix on titanium surfaces: Effects of roughness, chemical heterogeneity and surface energy
M Pegueroles, C Aparicio, M Bosio, E Engel, FJ Gil, JA Planell, ...
Acta Biomaterialia 6 (1), 291-301, 2010
1492010
Tracking of antibiotic resistance transfer and rapid plasmid evolution in a hospital setting by Nanopore sequencing
S Peter, M Bosio, C Gross, D Bezdan, J Gutierrez, P Oberhettinger, ...
Msphere 5 (4), 10.1128/msphere. 00525-20, 2020
532020
LRBA deficiency in a patient with a novel homozygous mutation due to chromosome 4 segmental uniparental isodisomy
P Soler-Palacín, M Garcia-Prat, A Martín-Nalda, C Franco-Jarava, ...
Frontiers in immunology 9, 2397, 2018
372018
A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes
R Urreizti, AM Cueto-Gonzalez, H Franco-Valls, S Mort-Farre, ...
Scientific reports 7 (1), 1-7, 2017
372017
Germline determinants of the somatic mutation landscape in 2,642 cancer genomes
SM Waszak, G Tiao, B Zhu, T Rausch, F Muyas, B Rodriguez-Martin, ...
BioRxiv, 208330, 2017
342017
Predicción de mortalidad en recién nacidos prematuros. Revisión sistemática actualizada
R del Río, M Thió, M Bosio, J Figueras, M Iriondo
Anales de Pediatría 93 (1), 24-33, 2020
262020
Allele balance bias identifies systematic genotyping errors and false disease associations
F Muyas, M Bosio, A Puig, H Susak, L Domènech, G Escaramis, L Zapata, ...
Human mutation 40 (1), 115-126, 2019
262019
eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics
M Bosio, O Drechsel, R Rahman, F Muyas, R Rabionet, D Bezdan, ...
Human mutation 40 (7), 865-878, 2019
192019
Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)
JA Wambach, GM Stettner, TB Haack, K Writzl, A Škofljanec, A Maver, ...
Human mutation 38 (11), 1477-1484, 2017
192017
Tracking of antibiotic resistance transfer and rapid plasmid evolution in a hospital setting by nanopore sequencing. mSphere. 2020; 5
S Peter, M Bosio, C Gross, D Bezdan, J Gutierrez, P Oberhettinger, ...
ISSN, 0
18
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration
F Ehrhart, A Jacobsen, M Rigau, M Bosio, R Kaliyaperumal, JFJ Laros, ...
Scientific data 8 (1), 10, 2021
162021
FGFR inhibition overcomes resistance to EGFR-targeted therapy in epithelial-like cutaneous carcinoma
A Bernat-Peguera, J Navarro-Ventura, L Lorenzo-Sanz, V da Silva-Diz, ...
Clinical Cancer Research 27 (5), 1491-1504, 2021
132021
Prediction of mortality in very low birth weight neonates in Spain
M Iriondo, M Thio, R Del Río, BJ Baucells, M Bosio, J Figueras-Aloy
PLoS One 15 (7), e0235794, 2020
132020
Differential expression of long non‐coding RNA s are related to proliferation and histological diversity in follicular lymphomas
A Roisman, G Castellano, A Navarro, B Gonzalez‐Farre, P Pérez‐Galan, ...
British journal of haematology 184 (3), 373-383, 2019
122019
The landscape of expression and alternative splicing variation across human traits
R García-Pérez, JM Ramirez, A Ripoll-Cladellas, R Chazarra-Gil, ...
Cell genomics 3 (1), 2023
112023
Gene expression data classification combining hierarchical representation and efficient feature selection
M Bosio, P Bellot, P Salembier, A Oliveras-Verges
Journal of Biological Systems 20 (04), 349-375, 2012
102012
Feature set enhancement via hierarchical clustering for microarray classification
M Bosio, PB Pujalte, P Salembier, A Oliveras-Vergés
2011 IEEE International Workshop on Genomic Signal Processing and Statistics …, 2011
92011
Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation
H Susak, L Serra-Saurina, G Demidov, R Rabionet, L Domènech, M Bosio, ...
PLOS Computational Biology 17 (2), e1007784, 2021
82021
Prediction of mortality in premature neonates. An updated systematic review
R Del Río, M Thió, M Bosio, J Figueras, M Iriondo
Anales de Pediatría (English Edition) 93 (1), 24-33, 2020
82020
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Articles 1–20