Lista de obras - Sergi Beltran - Dominio Público Uruguay

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

artículo científico publicado en 2015

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

artículo científico publicado en 2020

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

scientific article published on 04 January 2017

CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1- mantle cell lymphoma

scientific article published on 11 December 2018

Chromosome 12p Amplification in Triple-Negative/BRCA1-Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity

artículo científico publicado en 2019

Clonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia

artículo científico publicado en 2019

Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens

artículo científico publicado en 2015

Conserved chromosomal clustering of genes governed by chromatin regulators in Drosophila

artículo científico publicado en 2008

Deep RNA sequencing of the skeletal muscle transcriptome in swimming fish

artículo científico publicado en 2013

Drosophila melanogaster SAP18 protein is required for environmental stress responses.

artículo científico publicado en 2010

Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer

artículo científico publicado en 2015

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data

artículo científico publicado en 2021

Framework For Quality Assessment Of Whole Genome, Cancer Sequences

From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing.

artículo científico publicado en 2016

Functional dissection of the ash2 and ash1 transcriptomes provides insights into the transcriptional basis of wing phenotypes and reveals conserved protein interactions

artículo científico publicado en 2007

GA4GH: International policies and standards for data sharing across genomic research and healthcare

artículo científico publicado en 2021

Gene expression following induction of regeneration in Drosophila wing imaginal discs. Expression profile of regenerating wing discs.

artículo científico publicado en 2010

Genome-wide analysis reveals that Smad3 and JMJD3 HDM co-activate the neural developmental program.

artículo científico publicado en 2012

Genomic characterization of mutant laboratory mouse strains by exome sequencing and annotation lift-over

artículo científico publicado en 2015

Growth phase-dependent control of R27 conjugation is mediated by the interplay between the plasmid-encoded regulatory circuit TrhR/TrhY-HtdA and the cAMP regulon.

artículo científico publicado en 2016

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

scientific article published on 01 May 2022

High-throughput sequence analysis of turbot (Scophthalmus maximus) transcriptome using 454-pyrosequencing for the discovery of antiviral immune genes.

artículo científico publicado en 2012

Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes

artículo científico publicado en 2016

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

scientific article published on 23 June 2019

Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer

article

Leveraging European infrastructures to access 1 million human genomes by 2022

scientific article published on 27 August 2019

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

artículo científico publicado en 2019

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

scientific journal article

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

artículo científico publicado en 2018

New genes emerging for colorectal cancer predisposition

artículo científico publicado en 2014

Next generation sequencing gives an insight into the characteristics of highly selected breeds versus non-breed horses in the course of domestication

artículo científico publicado en 2014

Phenomic and Genomic Characterization of a Mutant Platform in

artículo científico publicado en 2018

RD-Connect: Data sharing and analysis for rare disease research within the integrated platform and through GA4GH beacon and matchmaker exchange

article

RNA polymerase II progression through H3K27me3-enriched gene bodies requires JMJD3 histone demethylase.

artículo científico publicado en 2012

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

artículo científico publicado en 2024

Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.

artículo científico publicado en 2017

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

artículo científico publicado en 2018

Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.

artículo científico publicado en 2013

Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses

artículo científico publicado en 2015

Shared Oncogenic Pathways Implicated in Both Virus-Positive and UV-Induced Merkel Cell Carcinomas.

artículo científico publicado en 2016

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

artículo científico publicado en 2021

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

artículo científico publicado en 2021

Solving unsolved rare neurological diseases-a Solve-RD viewpoint

artículo científico publicado en 2021

Somatic Embryonic FGFR2 Mutations in Keratinocytic Epidermal Nevi.

artículo científico publicado en 2016

Splenic diffuse red pulp small B-cell lymphoma displays increased expression of cyclin D3 and recurrent CCND3 mutations

artículo científico publicado en 2017

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer

artículo científico publicado en 2016

The Matchmaker Exchange: a platform for rare disease gene discovery

artículo científico publicado en 2015

Thermal evolution of gene expression profiles in Drosophila subobscura

artículo científico publicado en 2007

Transcriptional network controlled by the trithorax-group gene ash2 in Drosophila melanogaster

artículo científico publicado en 2003

Transcriptome and genome sequencing uncovers functional variation in humans

artículo científico publicado en 2013

Transcriptomic characterization of the larval stage in gilthead seabream (Sparus aurata) by 454 pyrosequencing

artículo científico

Transcriptomics of in vitro immune-stimulated hemocytes from the Manila clam Ruditapes philippinarum using high-throughput sequencing

artículo científico publicado en 2012

Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke.

artículo científico publicado en 2016

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

artículo científico

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

artículo científico publicado en 2014

Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation.

artículo científico publicado en 2013

Lista de obras de Sergi Beltran

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1- mantle cell lymphoma

Chromosome 12p Amplification in Triple-Negative/BRCA1-Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity

Clonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia

Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens

Conserved chromosomal clustering of genes governed by chromatin regulators in Drosophila

Deep RNA sequencing of the skeletal muscle transcriptome in swimming fish

Drosophila melanogaster SAP18 protein is required for environmental stress responses.

Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data

Framework For Quality Assessment Of Whole Genome, Cancer Sequences

From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing.

Functional dissection of the ash2 and ash1 transcriptomes provides insights into the transcriptional basis of wing phenotypes and reveals conserved protein interactions

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Gene expression following induction of regeneration in Drosophila wing imaginal discs. Expression profile of regenerating wing discs.

Genome-wide analysis reveals that Smad3 and JMJD3 HDM co-activate the neural developmental program.

Genomic characterization of mutant laboratory mouse strains by exome sequencing and annotation lift-over

Growth phase-dependent control of R27 conjugation is mediated by the interplay between the plasmid-encoded regulatory circuit TrhR/TrhY-HtdA and the cAMP regulon.

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

High-throughput sequence analysis of turbot (Scophthalmus maximus) transcriptome using 454-pyrosequencing for the discovery of antiviral immune genes.

Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer

Leveraging European infrastructures to access 1 million human genomes by 2022

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

New genes emerging for colorectal cancer predisposition

Next generation sequencing gives an insight into the characteristics of highly selected breeds versus non-breed horses in the course of domestication

Phenomic and Genomic Characterization of a Mutant Platform in

RD-Connect: Data sharing and analysis for rare disease research within the integrated platform and through GA4GH beacon and matchmaker exchange

RNA polymerase II progression through H3K27me3-enriched gene bodies requires JMJD3 histone demethylase.

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.

Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses

Shared Oncogenic Pathways Implicated in Both Virus-Positive and UV-Induced Merkel Cell Carcinomas.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Solving unsolved rare neurological diseases-a Solve-RD viewpoint

Somatic Embryonic FGFR2 Mutations in Keratinocytic Epidermal Nevi.

Splenic diffuse red pulp small B-cell lymphoma displays increased expression of cyclin D3 and recurrent CCND3 mutations

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer

The Matchmaker Exchange: a platform for rare disease gene discovery

Thermal evolution of gene expression profiles in Drosophila subobscura

Transcriptional network controlled by the trithorax-group gene ash2 in Drosophila melanogaster

Transcriptome and genome sequencing uncovers functional variation in humans

Transcriptomic characterization of the larval stage in gilthead seabream (Sparus aurata) by 454 pyrosequencing

Transcriptomics of in vitro immune-stimulated hemocytes from the Manila clam Ruditapes philippinarum using high-throughput sequencing

Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke.

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation.