Anàlisi bioinformàtica de les mutacions puntuals patològiques

Carles Ferrer Costa
TDX (Tesis Doctorals en Xarxa)

2005
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

Olallo-Efrén Sánchez-Molero Núñez , Oscar Campuzano Larrea , Anna Fernández-Falgueras , Geòrgia Sarquella Brugada
PLoS ONE, 2016, vol. 11, núm. 12, p. e0167358

2016
P1694Natural and undetermined sudden death: value of post-mortem genetic investigation

O. Campuzano Larrea , A. Fernandez , I. Mademont , M. Coll
European Heart Journal 38

2017
HTHquery: a method for detecting DNA-binding proteins with a helix-turn-helix structural motif

C. Ferrer-Costa , H. P. Shanahan , S. Jones , J. M. Thornton
Bioinformatics 21 ( 18) 3679 -3680

29
2005
PMUT: a web-based tool for the annotation of pathological mutations on proteins

C. Ferrer-Costa , J. L. Gelpi , L. Zamakola , I. Parraga
Bioinformatics 21 ( 14) 3176 -3178

540
2005
Sequence-based prediction of pathological mutations

C. Ferrer-Costa , M. Orozco , X. de la Cruz
Proteins: Structure, Function, and Bioinformatics 57 ( 4) 811 -819

153
2004
PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes

L. Conde , J. M. Vaquerizas , C. Ferrer-Costa , X. de la Cruz
Nucleic Acids Research 33 501 -505

54
2005
The catalytic site structural gate of adenosine deaminase allosterically modulates ligand binding to adenosine receptors

Eduard Gracia , Daniel Farré , Antoni Cortés , Carles Ferrer‐Costa
The FASEB Journal 27 ( 3) 1048 -1061

26
2013
A fast method for the determination of fractional contributions to solvation in proteins

CARLES FERRER-COSTA , JOSEP LLUIS GELPI , XAVIER DE LA CRUZ , ROBERT SOLIVA

Annotation of Non-Human Pathological Mutations utilising Human-Parameterised Neural Networks.

Modesto Orozco , Carles Ferrer-Costa , Xavier de la Cruz
Spanish Bioinformatics Conference 128 -131

2004
Comparative Study of MAPK 9 Alternative Splicing from Human and Mouse.

David Talavera , Modesto Orozco , Carles Ferrer-Costa , Xavier de la Cruz
Spanish Bioinformatics Conference 114 -117

2004
Adefovir for chronic hepatitis B treatment: identification of virological markers linked to therapy response.

Francisco Rodriguez-Frias , David Tabernero , Melanie Schaper , Maria Homs
Antiviral Therapy 13 ( 8) 991 -999

8
2008
Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.

Marta Puigmulé , Alexandra Pérez-Serra , Sergi Cesar , Elena Arbelo
Journal of Personalized Medicine 11 ( 3) 162

2
2021
The structure of human 4F2hc ectodomain provides a model for homodimerization and electrostatic interaction with plasma membrane

Joana Fort , Laura R. de la Ballina , Hans E. Burghardt , Carles Ferrer-Costa
Journal of Biological Chemistry 282 ( 43) 31444 -31452

77
2007
Reanalysis and Reclassification of Rare Genetic Variants Associated with Inherited Arrhythmogenic Syndromes

Oscar Campuzano Larrea , Georgia Sarquella Brugada , Anna Fernandez-Falgueras , Mónica Coll
Social Science Research Network

2020
Characterization of compensated mutations in terms of structural and physico-chemical properties.

Carles Ferrer-Costa , Modesto Orozco , Xavier de la Cruz
Journal of Molecular Biology 365 ( 1) 249 -256

46
2007
Correction: Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Monica Coll , Ferran Pico , Anna Iglesias , Coloma Tirón
PLOS ONE 12 ( 2)

5
2017
The role of clinical, genetic and segregation evaluation in sudden infant death.

Oscar Campuzano , Catarina Allegue , Georgia Sarquella-Brugada , Monica Coll
Forensic Science International 242 9 -15

16
2014
Post-mortem genetic analysis in juvenile cases of sudden cardiac death

Oscar Campuzano , Olallo Sanchez-Molero , Catarina Allegue , Monica Coll
Forensic Science International 245 30 -37

31
2014
Genetic analysis in post-mortem samples with micro-ischemic alterations.

Oscar Campuzano , Olallo Sanchez-Molero , Irene Mademont-Soler , Monica Coll
Forensic Science International 271 120 -125

2017