Publications by authors named "Natalia Padilla"

14Publications

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.

Front Immunol 2020 31;11:107. Epub 2020 Jan 31.

Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Research Institute (VHIR), Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2020.00107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7006814PMC
January 2020

PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors.

Proc Natl Acad Sci U S A 2019 09 5;116(39):19464-19473. Epub 2019 Sep 5.

Department of Molecular Genomics, Instituto de Biología Molecular de Barcelona, Consejo Superior de Investigaciones Científicas, 08028 Barcelona, Spain;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1903188116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6765295PMC
September 2019

BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.

Hum Mutat 2019 09 3;40(9):1593-1611. Epub 2019 Jul 3.

Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR). Universitat Autònoma de Barcelona, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23802DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744361PMC
September 2019

Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence.

BMC Genomics 2017 08 11;18(Suppl 5):569. Epub 2017 Aug 11.

Research Unit in Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12864-017-3914-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558188PMC
August 2017

SeMPI: a genome-based secondary metabolite prediction and identification web server.

Nucleic Acids Res 2017 07;45(W1):W64-W71

Pharmaceutical Bioinformatics, Institute of Pharmaceutical Science, Albert-Ludwigs-University, Hermann-Herder-Strasse 9, Freiburg 79104, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gkx289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570227PMC
July 2017

The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions.

Hum Mutat 2016 10 8;37(10):1013-24. Epub 2016 Aug 8.

Research Unit in Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23048DOI Listing
October 2016

Novel Mutations Causing C5 Deficiency in Three North-African Families.

J Clin Immunol 2016 05 30;36(4):388-96. Epub 2016 Mar 30.

Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-016-0275-4DOI Listing
May 2016