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List of works by Giorgia Girotto

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

scientific article

A bird's-eye view of Italian genomic variation through whole-genome sequencing

scientific article published on 29 November 2019

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

scientific article published on 31 May 2019

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

scientific article

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

scientific article published on 13 October 2016

Age related hearing loss and level of education: An epidemiological study on a large cohort of isolated populations

scholarly article by Dragana Vuckovic et al published 15 May 2014 in Hearing, balance and communication

Association of SNPs in LCP1 and CTIF with hearing in 11 year old children: findings from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort and the G-EAR consortium

scientific article

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

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

scientific article

Consanguinity and hereditary hearing loss in Qatar

scientific article

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

scientific article published on 26 May 2017

Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway

scientific article published on 07 August 2018

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals

scientific article published on 01 June 2019

Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice

scientific article

Evidence of inbreeding depression on human height

scientific article

Expression and replication studies to identify new candidate genes involved in normal hearing function

scientific article published on 14 January 2014

Frequency of hearing loss in a series of rural communities of five developing countries located along the Silk Road

Functional analysis of candidate genes from genome-wide association studies of hearing

scientific article published on 02 January 2020

GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population

scientific article

Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci

scientific article published on 05 May 2020

Genetic Dissection of Temperament Personality Traits in Italian Isolates

scientific article published in 2021

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

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic landscape of populations along the Silk Road: admixture and migration patterns.

scientific article

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

scientific article

Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss

scientific article published on 17 July 2015

Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment

scientific article published on 23 October 2019

Genome-wide association study identifies 74 loci associated with educational attainment

scientific article published on 11 May 2016

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

scientific article published on 27 July 2012

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

article

Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability

scientific article published in 2021

Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways

scientific article published on 14 April 2011

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

scientific article published on 20 March 2014

Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar

scientific article published on January 2015

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

scientific article published in November 2015

Lifestyle and normal hearing function in Italy and Central Asia: The potential role of coffee

article

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss

scientific article

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene

scientific article published in December 2009

MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations

scientific article

Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in Age-Related Hearing Loss

scientific article

Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss

scientific article published on 01 October 2019

Next Generation Sequencing and Animal Models Reveal as a New Gene Involved in Human Age-Related Hearing Loss

article

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

scientific article published on 13 July 2019

Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.

scientific article

Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene

scientific article published in 2021

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

scientific article

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

article

PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss

scientific article

Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations

scientific article

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

article

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

scholarly article published in Nature Genetics

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

erratum

Publisher Correction: Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

scientific article published on 01 July 2019

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Salt-inducible kinase 3, SIK3, is a new gene associated with hearing

scientific article

Seventy-five genetic loci influencing the human red blood cell

scientific article published on 5 December 2012

TBL1Y: a new gene involved in syndromic hearing loss

article

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

scientific article published on 02 October 2019

Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families

scientific article published on 4 May 2017

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

scientific article published in 2023

The p.Cys169Tyr variant of connexin 26 is not a polymorphism

scientific article

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss

scientific article published in 2021

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis

scientific article published on 6 January 2015

Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection

scientific article published on 30 April 2018

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