Lista de obras - Serena Sanna - Dominio Público Uruguay

52 Genetic Loci Influencing Myocardial Mass

artículo científico publicado en 2016

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia

artículo científico publicado en 2020

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation

artículo científico publicado en 2012

A genome-wide association search for type 2 diabetes genes in African Americans

artículo científico publicado en 2012

A likelihood-based framework for variant calling and de novo mutation detection in families

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis.

artículo científico publicado en 2012

Amelioration of Sardinian beta0 thalassemia by genetic modifiers

artículo científico publicado en 2009

BDNF Val66Met is associated with introversion and interacts with 5-HTTLPR to influence neuroticism

artículo científico publicado en 2010

Biological, clinical and population relevance of 95 loci for blood lipids

artículo científico publicado en 2010

COL4A1 is associated with arterial stiffness by genome-wide association scan

artículo científico publicado en 2009

Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases

artículo científico publicado en 2019

Common genetic variation in the 3'-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk: the AortaGen Consortium

artículo científico publicado en 2011

Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies

artículo científico publicado en 2009

Common variants associated with plasma triglycerides and risk for coronary artery disease

artículo científico publicado en 2013

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

artículo científico publicado en 2010

Common variants at 30 loci contribute to polygenic dyslipidemia

artículo científico publicado en 2009

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

artículo científico publicado en 2009

Common variants in the GDF5-UQCC region are associated with variation in human height

artículo científico publicado en 2008

Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia

artículo científico publicado en 2009

Common variants near MC4R are associated with fat mass, weight and risk of obesity

artículo científico publicado en 2008

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

artículo científico publicado en 2009

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

artículo científico publicado en 2017

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

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

artículo científico publicado en 2015

DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

artículo científico publicado en 2008

Defining the role of common variation in the genomic and biological architecture of adult human height

artículo científico publicado en 2014

Discovery and refinement of loci associated with lipid levels

artículo científico publicado en 2013

Discovery of novel heart rate-associated loci using the Exome Chip

artículo científico publicado en 2017

Drug-sensitized zebrafish screen identifies multiple genes, including GINS3, as regulators of myocardial repolarization

artículo científico publicado en 2009

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Exome-wide association study of plasma lipids in >300,000 individuals

artículo científico publicado en 2017

FTO genotype is associated with phenotypic variability of body mass index

artículo científico publicado en 2012

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability

artículo científico publicado en 2011

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

artículo científico publicado en 2020

Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia

artículo científico publicado en 2014

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

artículo científico publicado en 2014

Genetic evidence of assortative mating in humans

article

Genetic insights into biological mechanisms governing human ovarian ageing

artículo científico publicado en 2021

Genetic loci influencing kidney function and chronic kidney disease

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Genetic variants influencing circulating lipid levels and risk of coronary artery disease

artículo científico publicado en 2010

Genetic variants regulating immune cell levels in health and disease.

artículo científico publicado en 2013

Genetics of serum BDNF: meta-analysis of the Val66Met and genome-wide association study

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course

artículo científico publicado en 2013

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Genome-wide association analysis identifies multiple loci related to resting heart rate

artículo científico publicado en 2010

Genome-wide association scan for five major dimensions of personality

artículo científico publicado en 2010

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

artículo científico publicado en 2009

Genome-wide association scan of trait depression

scientific journal article

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

artículo científico publicado en 2011

Genome-wide association study of PR interval

artículo científico publicado en 2010

Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1

artículo científico publicado en 2012

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

artículo científico publicado en 2015

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia

artículo científico publicado en 2008

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 physical activity interactions in adiposity - A meta-analysis of 200,452 adults

artículo científico publicado en 2017

Genotype calling and haplotyping in parent-offspring trios

artículo científico publicado en 2012

Genotype imputation

artículo científico publicado en 2009

Genotype imputation in genome-wide association studies

artículo científico

HLA-DQB1 Haplotypes and their Relation to Oral Signs Linked to Celiac Disease Diagnosis

artículo científico publicado en 2011

Height-reducing variants and selection for short stature in Sardinia

artículo científico publicado en 2015

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

artículo científico publicado en 2010

IRAK-M is involved in the pathogenesis of early-onset persistent asthma

artículo científico publicado en 2007

Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Identification of ten loci associated with height highlights new biological pathways in human growth

artículo científico publicado en 2008

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

artículo científico publicado en 2017

Impact of commonly used drugs on the composition and metabolic function of the gut microbiota

artículo científico publicado en 2020

Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome

Integration of multi-omics data and deep phenotyping enables prediction of cytokine responses

artículo científico publicado en 2018

Lack of association between genetic variants at ACE2 and TMPRSS2 genes involved in SARS-CoV-2 infection and human quantitative phenotypes

artículo científico publicado en 2020

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

artículo científico publicado en 2015

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

artículo científico publicado en 2012

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

artículo científico publicado en 2015

LocusZoom: regional visualization of genome-wide association scan results

artículo científico publicado en 2010

Longevity candidate genes and their association with personality traits in the elderly

artículo científico publicado en 2011

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

artículo científico publicado en 2015

Mendelian randomization while jointly modeling cis genetics identifies causal relationships between gene expression and lipids

scientific article published on 01 October 2020

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

artículo científico publicado en 2012

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2010

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

artículo científico publicado en 2009

Meta-analysis of genome-wide association studies for personality.

artículo científico publicado en 2010

Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque

artículo científico publicado en 2011

Meta-analysis of genome-wide association studies identifies common variants in CTNNA2 associated with excitement-seeking.

artículo científico publicado en 2011

Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease

artículo científico publicado en 2013

New gene functions in megakaryopoiesis and platelet formation

artículo científico publicado en 2011

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

New genetic loci link adipose and insulin biology to body fat distribution

artículo científico publicado en 2015

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

artículo científico publicado en 2008

No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

artículo científico publicado en 2012

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

artículo científico publicado en 2014

Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function

artículo científico publicado en 2008

Population genomic analysis of ancient and modern genomes yields new insights into the genetic ancestry of the Tyrolean Iceman and the genetic structure of Europe

artículo científico publicado en 2014

Population- and individual-specific regulatory variation in Sardinia.

artículo científico publicado en 2017

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

artículo científico publicado en 2014

Reproductive aging-associated common genetic variants and the risk of breast cancer

artículo científico publicado en 2012

SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits ⬇️

artículo científico publicado en 2012

Seventy-five genetic loci influencing the human red blood cell

artículo científico publicado en 2012

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

artículo científico publicado en 2009

The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts

artículo científico publicado en 2007

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 burden of multiple sclerosis variants in continental Italians and Sardinians

artículo científico publicado en 2015

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

artículo científico publicado en 2016

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Variants in MTNR1B influence fasting glucose levels

artículo científico publicado en 2008

Variants of the serotonin transporter gene and NEO-PI-R Neuroticism: No association in the BLSA and SardiNIA samples

artículo científico publicado en 2009

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

scientific journal article

Lista de obras de Serena Sanna

52 Genetic Loci Influencing Myocardial Mass

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation

A genome-wide association search for type 2 diabetes genes in African Americans

A likelihood-based framework for variant calling and de novo mutation detection in families

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

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

A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis.

Amelioration of Sardinian beta0 thalassemia by genetic modifiers

BDNF Val66Met is associated with introversion and interacts with 5-HTTLPR to influence neuroticism

Biological, clinical and population relevance of 95 loci for blood lipids

COL4A1 is associated with arterial stiffness by genome-wide association scan

Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases

Common genetic variation in the 3'-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk: the AortaGen Consortium

Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies

Common variants associated with plasma triglycerides and risk for coronary artery disease

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

Common variants at 30 loci contribute to polygenic dyslipidemia

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

Common variants in the GDF5-UQCC region are associated with variation in human height

Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia

Common variants near MC4R are associated with fat mass, weight and risk of obesity

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

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

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

DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

Defining the role of common variation in the genomic and biological architecture of adult human height

Discovery and refinement of loci associated with lipid levels

Discovery of novel heart rate-associated loci using the Exome Chip

Drug-sensitized zebrafish screen identifies multiple genes, including GINS3, as regulators of myocardial repolarization

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

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

Exome-wide association study of plasma lipids in >300,000 individuals

FTO genotype is associated with phenotypic variability of body mass index

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Genetic evidence of assortative mating in humans

Genetic insights into biological mechanisms governing human ovarian ageing

Genetic loci influencing kidney function and chronic kidney disease

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

Genetic variants influencing circulating lipid levels and risk of coronary artery disease

Genetic variants regulating immune cell levels in health and disease.

Genetics of serum BDNF: meta-analysis of the Val66Met and genome-wide association study

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

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

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

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

Genome-wide association analysis identifies multiple loci related to resting heart rate

Genome-wide association scan for five major dimensions of personality

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

Genome-wide association scan of trait depression

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

Genome-wide association study of PR interval

Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia

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 physical activity interactions in adiposity - A meta-analysis of 200,452 adults

Genotype calling and haplotyping in parent-offspring trios

Genotype imputation

Genotype imputation in genome-wide association studies

HLA-DQB1 Haplotypes and their Relation to Oral Signs Linked to Celiac Disease Diagnosis

Height-reducing variants and selection for short stature in Sardinia

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

IRAK-M is involved in the pathogenesis of early-onset persistent asthma

Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels

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

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

Identification of ten loci associated with height highlights new biological pathways in human growth

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

Impact of commonly used drugs on the composition and metabolic function of the gut microbiota

Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome

Integration of multi-omics data and deep phenotyping enables prediction of cytokine responses