Lista de obras -

A Multi-Omics Approach to Liver Diseases: Integration of Single Nuclei Transcriptomics with Proteomics and HiCap Bulk Data in Human Liver

artículo científico publicado en 2020

A Significant Regulatory Mutation Burden at a High-Affinity Position of the CTCF Motif in Gastrointestinal Cancers

artículo científico publicado en 2016

A strand specific high resolution normalization method for chip-sequencing data employing multiple experimental control measurements

artículo científico publicado en 2012

Allele specific chromatin signals, 3D interactions, and motif predictions for immune and B cell related diseases

artículo científico publicado en 2019

Allele-specific transcription factor binding in liver and cervix cells unveils many likely drivers of GWAS signals

artículo científico publicado en 2016

Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression

artículo científico publicado en 2016

Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls.

artículo científico publicado en 2003

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

artículo científico publicado en 2020

Analysis of the Glutathione S-transferase M1 gene using pyrosequencing and multiplex PCR--no evidence of association to glaucoma

artículo científico publicado en 2003

Association of warfarin dose with genes involved in its action and metabolism

artículo científico publicado en 2006

Author Correction: Intra- and inter-individual metabolic profiling highlights carnitine and lysophosphatidylcholine pathways as key molecular defects in type 2 diabetes

artículo científico publicado en 2019

Binding sites for metabolic disease related transcription factors inferred at base pair resolution by chromatin immunoprecipitation and genomic microarrays

artículo científico publicado en 2005

Butyrate mediates decrease of histone acetylation centered on transcription start sites and down-regulation of associated genes

artículo científico publicado en 2007

Cancer associated epigenetic transitions identified by genome-wide histone methylation binding profiles in human colorectal cancer samples and paired normal mucosa

artículo científico publicado en 2011

ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer

artículo científico publicado en 2013

Combinations of histone modifications mark exon inclusion levels

artículo científico publicado en 2012

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

artículo científico publicado en 2007

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

artículo científico publicado en 2010

Contribution of genetics to visceral adiposity and its relation to cardiovascular and metabolic disease

artículo científico publicado en 2019

Different distribution of histone modifications in genes with unidirectional and bidirectional transcription and a role of CTCF and cohesin in directing transcription

artículo científico publicado en 2015

Differential binding and co-binding pattern of FOXA1 and FOXA3 and their relation to H3K4me3 in HepG2 cells revealed by ChIP-seq

artículo científico publicado en 2009

Discovery and characterization of coding and non-coding driver mutations in more than 2,500 whole cancer genomes

Evaluation of the Oculomedin gene in the etiology of primary open angle and exfoliative glaucoma.

artículo científico publicado en 2003

Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1.

artículo científico publicado en 2003

Functional role of P-glycoprotein in the human blood-placental barrier

artículo científico publicado en 2005

Genetic determinants of dabigatran plasma levels and their relation to bleeding

artículo científico publicado en 2013

Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy

artículo científico publicado en 2016

Genetic prevention of hepatitis C virus-induced liver fibrosis by allele-specific downregulation of MERTK.

artículo científico publicado en 2016

Genetic variants associated with angiotensin-converting enzyme inhibitor-induced cough: a genome-wide association study in a Swedish population

artículo científico publicado en 2017

Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment

artículo científico publicado en 2020

Histone H3 lysine 27 trimethylation in adult differentiated colon associated to cancer DNA hypermethylation

artículo científico publicado en 2009

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

artículo científico publicado en 2007

Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP

artículo científico publicado en 2009

In vitro analysis of DNA-protein interactions by proximity ligation

artículo científico publicado en 2007

Integration of genome-wide of Stat3 binding and epigenetic modification mapping with transcriptome reveals novel Stat3 target genes in glioma cells

artículo científico publicado en 2014

Integration of whole-body [18F]FDG PET/MRI with non-targeted metabolomics can provide new insights on tissue-specific insulin resistance in type 2 diabetes

scientific article published on 20 May 2020

Integrative epigenomic and genomic analysis of malignant pheochromocytoma

artículo científico publicado en 2010

Intra- and inter-individual metabolic profiling highlights carnitine and lysophosphatidylcholine pathways as key molecular defects in type 2 diabetes

scientific article published on 04 July 2019

Looking beyond GWAS: allele-specific transcription factor binding drives the association of GALNT2 to HDL-C plasma levels

artículo científico publicado en 2016

Maps of context-dependent putative regulatory regions and genomic signal interactions.

artículo científico publicado en 2016

Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing

artículo científico publicado en 2009

Monte Carlo feature selection for supervised classification

artículo científico publicado en 2008

Novel genes in cell cycle control and lipid metabolism with dynamically regulated binding sites for sterol regulatory element-binding protein 1 and RNA polymerase II in HepG2 cells detected by chromatin immunoprecipitation with microarray detection.

artículo científico publicado en 2009

Novel regulatory variant detected on the VKORC1 haplotype that is associated with warfarin dose

artículo científico publicado en 2016

Nucleosome regulatory dynamics in response to TGFβ

artículo científico publicado en 2014

Nucleosomes are well positioned in exons and carry characteristic histone modifications

artículo científico publicado en 2009

ORegAnno: an open-access community-driven resource for regulatory annotation

artículo científico publicado en 2008

PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c

artículo científico publicado en 2016

Pandemrix-induced narcolepsy is associated with genes related to immunity and neuronal survival

article

Placental transfer of quetiapine in relation to P-glycoprotein activity

SICTIN: Rapid footprinting of massively parallel sequencing data

artículo científico publicado en 2010

Single nucleus transcriptomics data integration recapitulates the major cell types in human liver

artículo científico publicado en 2020

Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases.

artículo científico publicado en 2019

The Thioesterase <i>ACOT1</i> as a Regulator of Lipid Metabolism in Type 2 Diabetes Detected in a Multi-Omics Study of Human Liver

artículo científico publicado en 2021

The promoter of inducible nitric oxide synthase implicated in glaucoma based on genetic analysis and nuclear factor binding.

artículo científico publicado en 2005

Two polypyrimidine tracts in the nitric oxide synthase 2 gene: similar regulatory sequences with different properties

artículo científico publicado en 2009

Whole-genome maps of USF1 and USF2 binding and histone H3 acetylation reveal new aspects of promoter structure and candidate genes for common human disorders

artículo científico publicado en 2008

ZBED6, a novel transcription factor derived from a domesticated DNA transposon regulates IGF2 expression and muscle growth

artículo científico publicado en 2009

lobChIP: from cells to sequencing ready ChIP libraries in a single day.

artículo científico publicado en 2015

rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression

artículo científico publicado en 2020

scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation

artículo científico publicado en 2022

Lista de obras de

A Multi-Omics Approach to Liver Diseases: Integration of Single Nuclei Transcriptomics with Proteomics and HiCap Bulk Data in Human Liver

A Significant Regulatory Mutation Burden at a High-Affinity Position of the CTCF Motif in Gastrointestinal Cancers

A strand specific high resolution normalization method for chip-sequencing data employing multiple experimental control measurements

Allele specific chromatin signals, 3D interactions, and motif predictions for immune and B cell related diseases

Allele-specific transcription factor binding in liver and cervix cells unveils many likely drivers of GWAS signals

Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression

Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls.

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

Analysis of the Glutathione S-transferase M1 gene using pyrosequencing and multiplex PCR--no evidence of association to glaucoma

Association of warfarin dose with genes involved in its action and metabolism

Author Correction: Intra- and inter-individual metabolic profiling highlights carnitine and lysophosphatidylcholine pathways as key molecular defects in type 2 diabetes

Binding sites for metabolic disease related transcription factors inferred at base pair resolution by chromatin immunoprecipitation and genomic microarrays

Butyrate mediates decrease of histone acetylation centered on transcription start sites and down-regulation of associated genes

Cancer associated epigenetic transitions identified by genome-wide histone methylation binding profiles in human colorectal cancer samples and paired normal mucosa

ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer

Combinations of histone modifications mark exon inclusion levels

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

Contribution of genetics to visceral adiposity and its relation to cardiovascular and metabolic disease

Different distribution of histone modifications in genes with unidirectional and bidirectional transcription and a role of CTCF and cohesin in directing transcription

Differential binding and co-binding pattern of FOXA1 and FOXA3 and their relation to H3K4me3 in HepG2 cells revealed by ChIP-seq

Discovery and characterization of coding and non-coding driver mutations in more than 2,500 whole cancer genomes

Evaluation of the Oculomedin gene in the etiology of primary open angle and exfoliative glaucoma.

Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1.

Functional role of P-glycoprotein in the human blood-placental barrier

Genetic determinants of dabigatran plasma levels and their relation to bleeding

Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy

Genetic prevention of hepatitis C virus-induced liver fibrosis by allele-specific downregulation of MERTK.

Genetic variants associated with angiotensin-converting enzyme inhibitor-induced cough: a genome-wide association study in a Swedish population

Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment

Histone H3 lysine 27 trimethylation in adult differentiated colon associated to cancer DNA hypermethylation

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP

In vitro analysis of DNA-protein interactions by proximity ligation

Integration of genome-wide of Stat3 binding and epigenetic modification mapping with transcriptome reveals novel Stat3 target genes in glioma cells

Integration of whole-body [18F]FDG PET/MRI with non-targeted metabolomics can provide new insights on tissue-specific insulin resistance in type 2 diabetes

Integrative epigenomic and genomic analysis of malignant pheochromocytoma

Intra- and inter-individual metabolic profiling highlights carnitine and lysophosphatidylcholine pathways as key molecular defects in type 2 diabetes

Looking beyond GWAS: allele-specific transcription factor binding drives the association of GALNT2 to HDL-C plasma levels

Maps of context-dependent putative regulatory regions and genomic signal interactions.

Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing

Monte Carlo feature selection for supervised classification

Novel genes in cell cycle control and lipid metabolism with dynamically regulated binding sites for sterol regulatory element-binding protein 1 and RNA polymerase II in HepG2 cells detected by chromatin immunoprecipitation with microarray detection.

Novel regulatory variant detected on the VKORC1 haplotype that is associated with warfarin dose

Nucleosome regulatory dynamics in response to TGFβ

Nucleosomes are well positioned in exons and carry characteristic histone modifications

ORegAnno: an open-access community-driven resource for regulatory annotation

PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c

Pandemrix-induced narcolepsy is associated with genes related to immunity and neuronal survival

Placental transfer of quetiapine in relation to P-glycoprotein activity

SICTIN: Rapid footprinting of massively parallel sequencing data

Single nucleus transcriptomics data integration recapitulates the major cell types in human liver

Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases.

The Thioesterase <i>ACOT1</i> as a Regulator of Lipid Metabolism in Type 2 Diabetes Detected in a Multi-Omics Study of Human Liver

The promoter of inducible nitric oxide synthase implicated in glaucoma based on genetic analysis and nuclear factor binding.

Two polypyrimidine tracts in the nitric oxide synthase 2 gene: similar regulatory sequences with different properties

Whole-genome maps of USF1 and USF2 binding and histone H3 acetylation reveal new aspects of promoter structure and candidate genes for common human disorders

ZBED6, a novel transcription factor derived from a domesticated DNA transposon regulates IGF2 expression and muscle growth

lobChIP: from cells to sequencing ready ChIP libraries in a single day.

rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression

scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation