List of works by Eleonora Porcu

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

scientific article

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

scientific article

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

scientific article published on 04 April 2013

Bridging the gap: metabolic and endocrine care of patients during transition

scientific article

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

scientific article

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

scientific article

Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

scientific article published in 2021

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

scientific article

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

scientific article

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

scientific article

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

scientific article published on 10 May 2015

Genotype imputation in genome-wide association studies

scientific article published on July 2013

Human oocyte cryopreservation in infertility and oncology

scientific article published on December 2008

Human oocyte cryopreservation with slow freezing versus vitrification. Results from the National Italian Registry data, 2007-2011.

scientific article

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

scientific article

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

scientific article

Imaging in pediatric and adolescent gynecology

scientific article published on January 2004

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

scientific article published in November 2015

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

scientific article published on 24 July 2019

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

scientific article

New gene functions in megakaryopoiesis and platelet formation

scientific article published on 30 November 2011

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

scientific article published on 17 June 2016

Oocyte cryopreservation in oncological patients

scientific article

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

scientific article

Progress with oocyte cryopreservation

scientific article

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

scientific article

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

Seventy-five genetic loci influencing the human red blood cell

scientific article published on 5 December 2012

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

scientific article

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

scientific journal article

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