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List of works by David Salgado

A human cell model of cardiac pathophysiological valvulogenesis

A mutation in the Gardos channel is associated with hereditary xerocytosis

scientific article

Actionable Genes, Core Databases, and Locus-Specific Databases.

scientific article

Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022

scientific article published on 01 November 2019

BRCA Share: A Collection of Clinical BRCA Gene Variants

scientific article

BioCreative III interactive task: an overview

scientific article

COMPARE, a multi-organism system for cross-species data comparison and transfer of information

scientific article

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

scientific article published on 10 November 2017

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

scientific article published on 4 September 2015

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

article

Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma

scientific article published on 27 July 2017

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.

scientific article published on 7 September 2016

How to link ontologies and protein-protein interactions to literature: text-mining approaches and the BioCreative experience

scientific article (publication date: 2012)

Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis

scientific article published on 26 April 2019

Identification of a peripheral blood gene signature predicting aortic valve calcification

scientific article published on 12 October 2020

Identification of splicing defects caused by mutations in the dysferlin gene

scientific article published on December 2014

Leveraging European infrastructures to access 1 million human genomes by 2022

scientific article published on 27 August 2019

Minimum information specification for in situ hybridization and immunohistochemistry experiments (MISFISHIE)

scientific article

MyMiner: a web application for computer-assisted biocuration and text annotation

scientific article published on 12 July 2012

Neural crest regulates myogenesis through the transient activation of NOTCH

scientific article (publication date: 26 May 2011)

New advances in DPYD genotype and risk of severe toxicity under capecitabine.

scientific article

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

scientific article

OISO, automatic treatment of patients management in oncogenetics

scientific article

Overview of the interactive task in BioCreative V

scientific article (publication date: 2016)

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

scientific article

TGFβ signalling acts as a molecular brake of myoblast fusion

scientific article published on 02 February 2021

The ANISEED database: digital representation, formalization, and elucidation of a chordate developmental program.

scientific article published on 20 July 2010

The CHEMDNER corpus of chemicals and drugs and its annotation principles

scientific article

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

scientific article published on 13 October 2020

The Protein-Protein Interaction tasks of BioCreative III: classification/ranking of articles and linking bio-ontology concepts to full text

scientific article

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

scientific article published on 17 March 2015

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

scientific article published on 26 August 2013

The Zebrafish Anatomy Portal: a novel integrated resource to facilitate zebrafish research

scientific article published on 8 September 2012

The king cobra genome reveals dynamic gene evolution and adaptation in the snake venom system

scientific article

The quail anatomy portal.

scientific article published on 07 April 2014

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

scientific article published on 04 February 2016

VarAFT: a variant annotation and filtration system for human next generation sequencing data.

scientific article published in July 2018

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

scientific article published on 20 September 2016

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy

scientific article published on 01 May 2019

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