List of works - Andrea Maschio

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

scientific article published on 20 November 2020

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Genomic history of the Sardinian population

scientific article published on 17 September 2018

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

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

scientific article published on 11 September 2015

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

scientific article

Overexpression of the Cytokine BAFF and Autoimmunity Risk

scientific article

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

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

scientific article

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

scientific article

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

scientific journal article

List of works by Andrea Maschio

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

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

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

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

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

Genomic history of the Sardinian population

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

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

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

Overexpression of the Cytokine BAFF and Autoimmunity Risk

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

Population- and individual-specific regulatory variation in Sardinia.

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

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

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis