Lista de obras -

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

artículo científico publicado en 2015

A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes

artículo científico publicado en 2010

ARF1 regulates Nef-induced CD4 degradation.

artículo científico publicado en 2004

Biased allelic expression in human primary fibroblast single cells

artículo científico publicado en 2014

Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications

artículo científico publicado en 2013

Chromatin three-dimensional interactions mediate genetic effects on gene expression

scientific article published on 01 May 2019

Correction: Genetic Structure of Europeans: A View from the North–East.

artículo científico publicado en 2010

Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation

artículo científico publicado en 2013

Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome

artículo científico publicado en 2015

DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation.

artículo científico publicado en 2013

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

artículo científico publicado en 2015

DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome

artículo científico publicado en 2008

Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing

artículo científico publicado en 2018

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression

artículo científico publicado en 2017

Detection of parent-of-origin specific expression quantitative trait loci by cis-association analysis of gene expression in trios

artículo científico publicado en 2012

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

artículo científico publicado en 2005

Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats

artículo científico publicado en 2014

Domains of genome-wide gene expression dysregulation in Down's syndrome.

artículo científico publicado en 2014

Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction

artículo científico publicado en 2012

Evidence for transcript networks composed of chimeric RNAs in human cells

artículo científico publicado en 2012

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

scientific article published on 03 December 2018

Extensive natural variation for cellular hydrogen peroxide release is genetically controlled

artículo científico publicado en 2012

Functional genetic variation of human miRNAs and phenotypic consequences

artículo científico publicado en 2008

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

artículo científico publicado en 2012

Genetic structure of Europeans: a view from the North-East

artículo científico publicado en 2009

Genomic, Proteomic and Phenotypic Heterogeneity in HeLa Cells across Laboratories: Implications for Reproducibility of Research Results

Germ cell-specific targeting of DICER or DGCR8 reveals a novel role for endo-siRNAs in the progression of mammalian spermatogenesis and male fertility

artículo científico publicado en 2014

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells

artículo científico publicado en 2015

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes

artículo científico publicado en 2007

Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts

artículo científico publicado en 2010

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

artículo científico publicado en 2014

Mapping of small RNAs in the human ENCODE regions

artículo científico publicado en 2008

Multi-omic measurements of heterogeneity in HeLa cells across laboratories

artículo científico publicado en 2019

New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism

artículo científico publicado en 2010

Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.

artículo científico publicado en 2015

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

artículo científico publicado en 2013

Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling

artículo científico publicado en 2005

Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High-Throughput Sequencing ⬇️

artículo científico publicado el 17 de junio de 2013

Regulation of fibrinogen production by microRNAs

artículo científico publicado en 2010

Research resource: the dynamic transcriptional profile of sertoli cells during the progression of spermatogenesis.

artículo científico publicado en 2015

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

artículo científico publicado en 2017

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

scientific article published on 03 October 2019

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

scientific journal article

Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells.

artículo científico publicado en 2017

Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.

artículo científico publicado en 2012

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

artículo científico publicado en 2013

The genomic landscape of human cellular circadian variation points to a novel role for the signalosome.

artículo científico publicado en 2017

Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation

artículo científico publicado en 2009

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

artículo científico publicado en 2015

Transcriptional and post-transcriptional profile of human chromosome 21.

artículo científico publicado en 2009

Lista de obras de

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes

ARF1 regulates Nef-induced CD4 degradation.

Biased allelic expression in human primary fibroblast single cells

Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications

Chromatin three-dimensional interactions mediate genetic effects on gene expression

Correction: Genetic Structure of Europeans: A View from the North–East.

Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation

Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome

DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation.

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome

Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression

Detection of parent-of-origin specific expression quantitative trait loci by cis-association analysis of gene expression in trios

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats

Domains of genome-wide gene expression dysregulation in Down's syndrome.

Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction

Evidence for transcript networks composed of chimeric RNAs in human cells

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

Extensive natural variation for cellular hydrogen peroxide release is genetically controlled

Functional genetic variation of human miRNAs and phenotypic consequences

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

Genetic structure of Europeans: a view from the North-East

Genomic, Proteomic and Phenotypic Heterogeneity in HeLa Cells across Laboratories: Implications for Reproducibility of Research Results

Germ cell-specific targeting of DICER or DGCR8 reveals a novel role for endo-siRNAs in the progression of mammalian spermatogenesis and male fertility

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes

Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

Mapping of small RNAs in the human ENCODE regions

Multi-omic measurements of heterogeneity in HeLa cells across laboratories

New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism

Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling

Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High-Throughput Sequencing ⬇️

Regulation of fibrinogen production by microRNAs

Research resource: the dynamic transcriptional profile of sertoli cells during the progression of spermatogenesis.

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells.

Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

The genomic landscape of human cellular circadian variation points to a novel role for the signalosome.

Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

Transcriptional and post-transcriptional profile of human chromosome 21.