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Author Details

David Salgado
2008
45
23
PMIDPaper TitleJournal TitlePublished Year
36896423Protein domains provide a new layer of information for classifying human variations in rare diseases.2023
34700215Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignancies.Eur J Cancer2021
33531476TGFβ signalling acts as a molecular brake of myoblast fusion.Nature Communications2021
33672764The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD.Biomedicines2021
34367618The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.F1000Res2020
32251670Piezo1 is required for outflow tract and aortic valve development.Journal of Molecular and Cellular Cardiology2020
32459172Transgenesis and web resources in quail.eLife2020
33044885Identification of a peripheral blood gene signature predicting aortic valve calcification.Physiological Genomics2020
32804075-dependent coordination of mouse cardiac progenitor cell patterning and differentiation.eLife2020
31112424Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.Circulation. Genomic and precision medicine2019
31520075Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022.Nat Rev Genet2019
31028265Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis.Nat Commun2019
31455890Leveraging European infrastructures to access 1 million human genomes by 2022.Nat Rev Genet2019
29860484VarAFT: a variant annotation and filtration system for human next generation sequencing data.Nucleic Acids Research2018
29125504Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.J Neuromuscul Dis2017
28689638[OISO, automatic treatment of patients management in oncogenetics].Bull Cancer2017
28495692Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.European Respiratory Journal2017
28751561Exome sequencing identifies recurrent alterations and the absence of , and mutations in splenic diffuse red pulp small B-cell lymphoma.Haematologica2017
28481884New advances in DPYD genotype and risk of severe toxicity under capecitabine.PLoS ONE2017
27589961Overview of the interactive task in BioCreative V.Database (Oxford)2016
27392807Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.Movement Disorders2016
27019452Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton.Journal of Genetics2016
26842889UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.Human Mutation2016
27647783WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.Human Mutation2016
27600092Actionable Genes, Core Databases, and Locus-Specific Databases.Hum Mutat2016
27599893How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.Human Mutation2016
27633797BRCA Share: A Collection of Clinical BRCA Gene Variants.Hum Mutat2016
26148990A mutation in the Gardos channel is associated with hereditary xerocytosis.Blood2015
25810773The CHEMDNER corpus of chemicals and drugs and its annotation principles.J Cheminform2015
25604253The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.Hum Mutat2015
27054082Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.Applied and Translational Genomics2015
24715219The quail anatomy portal.Database : the journal of biological databases and curation2014
25312915Identification of splicing defects caused by mutations in the dysferlin gene.Human Mutation2014
24162038Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.J Neurol2014
24297900The king cobra genome reveals dynamic gene evolution and adaptation in the snake venom system.Proc Natl Acad Sci U S A2013
23913485The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.Hum Mutat2013
22981871The Zebrafish Anatomy Portal: a novel integrated resource to facilitate zebrafish research.Developmental Biology2012
22438567How to link ontologies and protein-protein interactions to literature: text-mining approaches and the BioCreative experience.Database (Oxford)2012
22789588MyMiner: a web application for computer-assisted biocuration and text annotation.Bioinformatics2012
22151929The Protein-Protein Interaction tasks of BioCreative III: classification/ranking of articles and linking bio-ontology concepts to full text.BMC Bioinformatics2011
21572437Neural crest regulates myogenesis through the transient activation of NOTCH.Nature2011
22151968BioCreative III interactive task: an overview.BMC Bioinformatics2011
20647237The ANISEED database: digital representation, formalization, and elucidation of a chordate developmental program.Genome Research2010
18327244Minimum information specification for in situ hybridization and immunohistochemistry experiments (MISFISHIE).Nat Biotechnol2008
18056065COMPARE, a multi-organism system for cross-species data comparison and transfer of information.2008
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Josep Carreras Leukaemia Research Institute (IJC)
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Spanish National Cancer Research Centre
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Children's Hospital of Eastern Ontario Research Institute
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The University of Notre Dame Australia
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Institute for Research in Immunology and Cancer (IRIC), University of Montreal
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Translational and clinical research, Newcastle University Faculty of Medical Sciences
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National Center for Biotechnology Information, National Institutes of Health.
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Institute of Genetic Medicine, International Centre for Life
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European Bioinformatics Institute
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University of Zurich
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Spain Universitat de Barcelona (UB)
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University of Groningen, University Medical Center Groningen
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Norwegian University of Science and Technology
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Institute of Rare Diseases Research, Instituto de Salud Carlos III
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European Bioinformatics Institute
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Hospital Universitari Vall d'Hebron
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European Bioinformatics Institute (EMBL-EBI)
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European Bioinformatics Institute (EMBL-EBI)
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Spanish National Bioinformatics Institute (INB/ELIXIR-ES)
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University of Rome 'Tor Vergata'
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Department of Biology and Biotechnologies "Charles Darwin", La Sapienza University
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Pfizer Ltd
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Georgetown University Medical Center
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The MITRE Corporation
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Novo Nordisk Foundation Center for Protein Research, University of Copenhagen
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Universitat Tubingen, Institut fur Arbeitsmedizin
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European Bioinformatics Institute
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