Lista de obras - David Salgado - Dominio Público Uruguay

A human cell model of cardiac pathophysiological valvulogenesis

A mutation in the Gardos channel is associated with hereditary xerocytosis

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

BRCA Share: A Collection of Clinical BRCA Gene Variants

artículo científico publicado en 2016

BioCreative III interactive task: an overview

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2019

Identification of a peripheral blood gene signature predicting aortic valve calcification

artículo científico publicado en 2020

Identification of splicing defects caused by mutations in the dysferlin gene

artículo científico

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)

artículo científico publicado en 2008

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

artículo científico publicado en 2012

Neural crest regulates myogenesis through the transient activation of NOTCH

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

artículo científico publicado en 2016

Overview of the interactive task in BioCreative V

artículo científico publicado en 2016

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

artículo científico publicado en 2017

TGFβ signalling acts as a molecular brake of myoblast fusion

artículo científico publicado en 2021

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

artículo científico

The CHEMDNER corpus of chemicals and drugs and its annotation principles

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

The quail anatomy portal.

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

[OISO, automatic treatment of patients management in oncogenetics].

artículo científico publicado en 2017

Lista de obras de David Salgado

A human cell model of cardiac pathophysiological valvulogenesis

A mutation in the Gardos channel is associated with hereditary xerocytosis

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

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

BRCA Share: A Collection of Clinical BRCA Gene Variants

BioCreative III interactive task: an overview

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

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

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

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

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

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

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

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

Identification of a peripheral blood gene signature predicting aortic valve calcification

Identification of splicing defects caused by mutations in the dysferlin gene

Leveraging European infrastructures to access 1 million human genomes by 2022

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

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

Neural crest regulates myogenesis through the transient activation of NOTCH

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

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

Overview of the interactive task in BioCreative V

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

TGFβ signalling acts as a molecular brake of myoblast fusion

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

The CHEMDNER corpus of chemicals and drugs and its annotation principles

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

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

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

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

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

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

The quail anatomy portal.

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

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

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

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

[OISO, automatic treatment of patients management in oncogenetics].