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List of works by Serena Sanna

52 Genetic Loci Influencing Myocardial Mass

scientific article

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

scientific article published on 20 November 2020

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

scientific article

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

scientific article published on 4 January 2012

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

scientific article

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

scientific article

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

scientific article published on 23 November 2016

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

scientific article published on 6 January 2012

Amelioration of Sardinian beta0 thalassemia by genetic modifiers

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 18 February 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

scientific article published on 8 November 2011

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

scientific article

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

scientific article

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

scientific article

Common variants at 30 loci contribute to polygenic dyslipidemia

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 27 July 2009

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

scientific article published on 23 August 2017

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

scientific article

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

scientific article published on 30 March 2015

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

scholarly article

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

scientific article

Discovery and refinement of loci associated with lipid levels

scientific article

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

scientific article

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

scientific article published on 03 August 2009

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

scientific article published in November 2011

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

scientific article published in May 2010

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

scientific article published on 20 May 2015

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

scientific article published on 30 October 2017

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

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

scientific article

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

scientific article published on 07 August 2020

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

scientific article

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

scientific article

Genetic evidence of assortative mating in humans

article

Genetic insights into biological mechanisms governing human ovarian ageing

scientific article

Genetic loci influencing kidney function and chronic kidney disease

scientific article

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

scientific article

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

scientific article published on 23 September 2010

Genetic variants regulating immune cell levels in health and disease.

scientific article published on September 2013

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

scientific article

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

scientific article

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

scientific article published in Nature Communications

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

scientific article published on 12 May 2013

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

scientific article

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

scientific article published in February 2013

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

scientific article

Genome-wide association scan for five major dimensions of personality

scientific article

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

scientific article published in June 2009

Genome-wide association scan of trait depression

scientific journal article

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

scientific article published on 16 October 2011

Genome-wide association study of PR interval

scientific article

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

scientific article (publication date: 2012)

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

scientific article published on 10 May 2015

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

scientific article

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.

scientific article

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

scientific article published on 27 April 2017

Genotype calling and haplotyping in parent-offspring trios

scientific article

Genotype imputation

scientific article (publication date: 2009)

Genotype imputation in genome-wide association studies

scientific article published on July 2013

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

scientific article published on 4 November 2011

Height-reducing variants and selection for short stature in Sardinia

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 14 April 2013

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

scientific article

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

scientific article

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.

scientific article published on 12 September 2017

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

scientific article published on 17 January 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

scientific article published on 21 May 2018

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

scientific article published on 26 April 2020

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

scientific article published in December 2015

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

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

LocusZoom: regional visualization of genome-wide association scan results

scientific article (publication date: 15 September 2010)

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in June 2009

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

scientific article published on 21 December 2010

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

scientific article published on 11 September 2011

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

scientific article

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

scientific article (publication date: 17 September 2013)

New gene functions in megakaryopoiesis and platelet formation

scientific article published on 30 November 2011

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on June 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

scientific article (publication date: May 2014)

Population- and individual-specific regulatory variation in Sardinia.

scientific article published on 10 April 2017

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

scientific article published on 8 October 2014

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

scientific article

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

scientific article published on 24 October 2012

Seventy-five genetic loci influencing the human red blood cell

scientific article published on 5 December 2012

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

scientific article

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

scientific article

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

scientific article

The burden of multiple sclerosis variants in continental Italians and Sardinians

scientific article published on October 2015

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

scientific article published on 12 September 2016

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

scientific article

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

scientific article

Variants in MTNR1B influence fasting glucose levels

scientific article

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

scientific article

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

scientific journal article

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