Lista de obras -

A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia

artículo científico publicado en 2015

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

artículo científico publicado en 2016

Adducin- and ouabain-related gene variants predict the antihypertensive activity of rostafuroxin, part 2: clinical studies

artículo científico publicado en 2010

An overview of the genetic structure within the Italian population from genome-wide data

artículo científico publicado en 2012

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

artículo científico publicado en 2013

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients

artículo científico publicado en 2013

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2019

Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome

artículo científico publicado en 2006

Blood pressure loci identified with a gene-centric array

artículo científico publicado en 2011

Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension

artículo científico publicado en 2007

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

scholarly article

Copy number variations and cognitive phenotypes in unselected populations

artículo científico publicado en 2015

Copy-number disorders are a common cause of congenital kidney malformations

artículo científico publicado en 2012

Coronary risk in relation to genetic variation in MEOX2 and TCF15 in a Flemish population

artículo científico publicado en 2015

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2016

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

artículo científico publicado en 2014

Directional dominance on stature and cognition in diverse human populations

artículo científico publicado en 2015

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

artículo científico publicado en 2014

Erratum: Genetic loci associated with heart rate variability and their effects on cardiac disease risk

artículo científico publicado en 2017

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

article

FTO genotype is associated with phenotypic variability of body mass index

artículo científico publicado en 2012

Genes involved in vasoconstriction and vasodilation system affect salt-sensitive hypertension.

artículo científico publicado en 2011

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

artículo científico publicado en 2017

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

artículo científico publicado en 2016

Genetic evidence of assortative mating in humans

scholarly article

Genetic loci associated with heart rate variability and their effects on cardiac disease risk

artículo científico publicado en 2017

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

artículo científico publicado en 2011

Genetic studies of body mass index yield new insights for obesity biology

artículo científico publicado en 2015

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

artículo científico publicado en 2021

Genome-wide association study identifies 74 loci associated with educational attainment

artículo científico publicado en 2016

Genome-wide association study of kidney function decline in individuals of European descent

artículo científico publicado en 2014

Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts

artículo científico publicado en 2012

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

artículo científico publicado en 2017

Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis

artículo científico publicado en 2011

Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase

artículo científico publicado en 2011

Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis

artículo científico publicado en 2012

Heritability of left ventricular structure and function in Caucasian families

artículo científico publicado en 2011

Hundreds of variants clustered in genomic loci and biological pathways affect human height

artículo científico publicado en 2010

Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis

artículo científico publicado en 2015

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

artículo científico publicado en 2013

Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants

artículo científico publicado en 2012

Inactive Matrix Gla Protein Is Causally Related to Adverse Health Outcomes

article

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

artículo científico publicado en 2015

Klotho Gene in Human Salt-Sensitive Hypertension

scientific article published on 28 January 2020

Left ventricular diastolic function associated with common genetic variation in ATP12A in a general population.

artículo científico publicado en 2014

Low frequency and rare coding variation contributes to multiple sclerosis risk

Mechanisms of disease: The role of aldosterone in kidney damage and clinical benefits of its blockade

artículo científico publicado en 2007

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

artículo científico publicado en 2014

Nutrition in calcium nephrolithiasis

artículo científico publicado en 2013

PEAR1 is not a major susceptibility gene for cardiovascular disease in a Flemish population.

artículo científico publicado en 2017

PEAR1is not a human hypertension-susceptibility gene

article

PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.

artículo científico publicado en 2016

RFX-1, a putative alpha Adducin interacting protein in a human kidney library

artículo científico publicado en 2005

Role of the adducin family genes in human essential hypertension

artículo científico publicado en 2005

Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection.

artículo científico publicado en 2014

Sevelamer for hyperphosphataemia in kidney failure: controversy and perspective.

artículo científico publicado en 2012

TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives.

artículo científico publicado en 2015

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

artículo científico publicado en 2019

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2015

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

scholarly article published 13 July 2017

Urinary calcium is a determinant of bone mineral density in elderly men participating in the InCHIANTI study

artículo científico publicado en 2005

alpha- and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy

artículo científico publicado en 2009

Lista de obras de

A catalog of genetic loci associated with kidney function from analyses of a million individuals

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Adducin- and ouabain-related gene variants predict the antihypertensive activity of rostafuroxin, part 2: clinical studies

An overview of the genetic structure within the Italian population from genome-wide data

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Analysis of shared heritability in common disorders of the brain

Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients

Associations of autozygosity with a broad range of human phenotypes

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome

Blood pressure loci identified with a gene-centric array

Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

Copy number variations and cognitive phenotypes in unselected populations

Copy-number disorders are a common cause of congenital kidney malformations

Coronary risk in relation to genetic variation in MEOX2 and TCF15 in a Flemish population

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

Directional dominance on stature and cognition in diverse human populations

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

Erratum: Genetic loci associated with heart rate variability and their effects on cardiac disease risk

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

FTO genotype is associated with phenotypic variability of body mass index

Genes involved in vasoconstriction and vasodilation system affect salt-sensitive hypertension.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Genetic evidence of assortative mating in humans

Genetic loci associated with heart rate variability and their effects on cardiac disease risk

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Genetic studies of body mass index yield new insights for obesity biology

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Genome-wide association study identifies 74 loci associated with educational attainment

Genome-wide association study of kidney function decline in individuals of European descent

Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis

Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase

Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis

Heritability of left ventricular structure and function in Caucasian families

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants

Inactive Matrix Gla Protein Is Causally Related to Adverse Health Outcomes

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

Klotho Gene in Human Salt-Sensitive Hypertension

Left ventricular diastolic function associated with common genetic variation in ATP12A in a general population.

Low frequency and rare coding variation contributes to multiple sclerosis risk

Mechanisms of disease: The role of aldosterone in kidney damage and clinical benefits of its blockade

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

Nutrition in calcium nephrolithiasis

PEAR1 is not a major susceptibility gene for cardiovascular disease in a Flemish population.

PEAR1is not a human hypertension-susceptibility gene

PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.

RFX-1, a putative alpha Adducin interacting protein in a human kidney library

Role of the adducin family genes in human essential hypertension

Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection.

Sevelamer for hyperphosphataemia in kidney failure: controversy and perspective.

TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives.

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

Urinary calcium is a determinant of bone mineral density in elderly men participating in the InCHIANTI study

alpha- and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy