List of works - Daniela Toniolo

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

scientific article

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

scientific article published in February 2013

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

scientific article

New gene functions in megakaryopoiesis and platelet formation

scientific article published on 30 November 2011

A general approach for haplotype phasing across the full spectrum of relatedness

scientific article

Seventy-five genetic loci influencing the human red blood cell

scientific article published on 5 December 2012

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

scientific article

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

scientific article

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

scientific article

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

scientific article

Genome-wide association and functional follow-up reveals new loci for kidney function

scientific article

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

scientific article

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

scientific article published on 24 April 2017

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

scientific article

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Multiple loci are associated with white blood cell phenotypes

scientific article

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

scientific article

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function

scientific article

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

scientific article

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

scientific article

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

scientific article

Evidence of inbreeding depression on human height

scientific article

Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis

scientific article

Whole-genome sequence-based analysis of thyroid function.

scientific article

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

scientific article published on 26 September 2016

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

scientific article published on 8 September 2012

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

scientific article

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

scientific article

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

scientific article published on 31 May 2019

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

scientific article

Association of adiposity genetic variants with menarche timing in 92,105 women of European descent

scientific article published on 04 April 2013

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

scientific article published on 23 May 2017

A genome-wide association study of early menopause and the combined impact of identified variants

scientific article published on 9 January 2013

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

scientific article

Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes

scientific article

Rare coding variants and X-linked loci associated with age at menarche

scientific article

SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

scientific article published on 5 December 2016

Modulation of genetic associations with serum urate levels by body-mass-index in humans

scientific article

Common variants in Mendelian kidney disease genes and their association with renal function

scientific article published on 12 September 2013

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

scientific article published on 02 October 2019

Genome-wide meta-analysis of common variant differences between men and women

scientific article published on 27 July 2012

Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine

scientific article

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

scientific article published in Nature Communications

Spatial and temporal expression of POF1B, a gene expressed in epithelia

scientific journal article

Erratum: Whole-genome sequence-based analysis of thyroid function

scientific article published on 20 May 2015

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

scientific article published on 30 March 2015

List of works by Daniela Toniolo

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

A reference panel of 64,976 haplotypes for genotype imputation

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

New gene functions in megakaryopoiesis and platelet formation

A general approach for haplotype phasing across the full spectrum of relatedness

Seventy-five genetic loci influencing the human red blood cell

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

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

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

Genome-wide association and functional follow-up reveals new loci for kidney function

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Multiple loci are associated with white blood cell phenotypes

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function

Directional dominance on stature and cognition in diverse human populations

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Evidence of inbreeding depression on human height

Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis

Whole-genome sequence-based analysis of thyroid function.

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

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

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

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

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

Association of adiposity genetic variants with menarche timing in 92,105 women of European descent

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

A genome-wide association study of early menopause and the combined impact of identified variants

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes

Rare coding variants and X-linked loci associated with age at menarche

SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

Modulation of genetic associations with serum urate levels by body-mass-index in humans

Common variants in Mendelian kidney disease genes and their association with renal function

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

Genome-wide meta-analysis of common variant differences between men and women

Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

Spatial and temporal expression of POF1B, a gene expressed in epithelia

Erratum: Whole-genome sequence-based analysis of thyroid function

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis