Sergio Lois
机构: Translational Bioinformatics and Computational Biology Vall d'Hebron Research Institute (VHIR)
每年引用次数
引用次数
引用: 1,675
H-指数: 15
I10-指数 : 16
出版物: 38
A Bioinformatic Approach to the Comparative Study of Human and Mouse Proteomes.
Sergio Lois , Xavier de la Cruz
Spanish Bioinformatics Conference 119 -121
2004
Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma
Leticia De Mattos-Arruda , Regina Mayor , Charlotte KY Ng , Britta Weigelt
Nature Communications 6 ( 1) 8839 -8839
321
2015
RNA-Seq Perspectives to Improve Clinical Diagnosis.
Guillermo Marco-Puche , Sergio Lois , Javier Benítez , Juan Carlos Trivino
Frontiers in Genetics 10 1152
66
2019
The Relationship between Gene Isoform Multiplicity, Number of Exons and Protein Divergence
Jordi Morata , Santi Béjar , David Talavera , Casandra Riera
PLoS ONE 8 ( 8) e72742
3
2013
Enfoque diagnóstico molecular utilizando secuenciación exómica en las distrofias musculares cintura-cadera
Andrés Felipe Ramírez Botero , Leidy Johanna Posso Gómez , Andrés Castillo , Carmen Collado
Revista de la Facultad de Medicina 64 ( 1) 159 -164
2016
Prefoldin-like Bud27 influences the transcription of ribosomal components and ribosome biogenesis in Saccharomyces cerevisiae.
Verónica Martínez-Fernández , Abel Cuevas-Bermúdez , Francisco Gutiérrez-Santiago , Ana I. Garrido-Godino
RNA 26 ( 10) 1360 -1379
3
2020
Molecular damage in Fabry disease: Characterization and prediction of alpha‐galactosidase A pathological mutations
Casandra Riera , Sergio Lois , Carmen Domínguez , Israel Fernandez-Cadenas
Proteins 83 ( 1) 91 -104
17
2015
Prediction of pathological mutations in proteins: the challenge of integrating sequence conservation and structure stability principles
Casandra Riera , Sergio Lois , Xavier de la Cruz
Wiley Interdisciplinary Reviews: Computational Molecular Science 4 ( 3) 249 -268
17
2014
Lineage specific transcription factors and epigenetic regulators mediate TGFβ-dependent enhancer activation.
Raquel Fueyo , Simona Iacobucci , Stella Pappa , Conchi Estarás
Nucleic Acids Research 46 ( 7) 3351 -3365
10
2018
Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema
Roger Colobran , Sergio Lois , Xavier de la Cruz , Ricardo Pujol-Borrell
Clinical Immunology 150 ( 2) 143 -148
7
2014
The functional modulation of epigenetic regulators by alternative splicing
Sergio Lois , Noemí Blanco , Marian Martínez-Balbás , Xavier de la Cruz
BMC Genomics 8 ( 1) 252 -252
11
2007
Do protein motifs read the histone code
Xavier de la Cruz , Sergio Lois , Sara Sánchez-Molina , Marian A. Martínez-Balbás
BioEssays 27 ( 2) 164 -175
232
2005
Identification of germinal neurofibromin hotspots
Sergio Lois , Juan Báez-Flores , María Isidoro-García , Jesus Lacal
Biomedicines 10 ( 8) 2044 -2044
3
2022
Analysis of cell-free tumor DNA in cerebrospinal fluid to characterize and monitor the genetic alterations of brain tumors
Leticia De Mattos-Arruda , Regina Mayor , Charlotte KY Ng , Britta Weigelt
Cancer Research 75 ( 15_Supplement) 930 -930
1
2015
Molecular diagnosis approach through the use of whole exome sequencing in limb-girdle muscular dystrophies
Andrés Felipe Ramírez-Botero , Leidy Johanna Posso-Gómez , Andrés Castillo , Carmen Collado
Revista de la Facultad de Medicina 64 ( 1) 159 -164
2016
Enfoque diagnóstico molecular utilizando secuenciación exómica en las distrofias musculares cintura-cadera Molecular diagnosis approach through the use of whole exome sequencing in limb-girdle muscular dystrophies
Andrés Felipe Ramírez-Botero , Leidy Johanna Posso-Gómez , Andrés Castillo , Carmen Collado
Supplementary materials and methods
Supplementary Tables Figures , Raquel Fueyo , Simona Iacobucci , Stella Pappa
Next generation cytogenetics in myeloid hematological neoplasms: Detection of CNVs and translocations
María Chicano , Diego Carbonell , Julia Suárez-González , Sergio Lois
Cancers 13 ( 12) 3001 -3001
3
2021
Clinical utility of the Human Phenotype Ontology terms in the assessment of copy number variants through whole exome sequencing
Barbara Masotto , Yolanda Moreno-Saez , Dan Diego-Alvarez , Anna Baquero-Vaquer
EUROPEAN JOURNAL OF HUMAN GENETICS 30 ( SUPPL 1) 473 -473
2022
Characterization of the impact of alternative splicing on protein dynamics: The cases of glutathione S‐transferase and ectodysplasin‐A isoforms
Montserrat Barbany , Jordi Morata , Tim Meyer , Sergi Lois
Proteins 80 ( 9) 2235 -2249
4
2012