Area of research
Sensory Systems · Genetics
Research interest
Research interests include Hearing, Cochlea, Tinnitus, Genetics, Genetic Associations and Epidemiology, Metabolomics and Mass Spectrometry Studies, and Biochemical Analysis and Sensing Techniques.
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Novel loci and biomedical consequences of iron homoeostasis variation
Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy
Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population
Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color
Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation
Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment
Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function
Genome-wide association study identifies 74 loci associated with educational attainment
Genetic variants linked to education predict longevity
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
Genome-wide association analysis on normal hearing function identifies<i>PCDH20</i>and<i>SLC28A3</i>as candidates for hearing function and loss
PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss
Common Variants in UMOD Associate with Urinary Uromodulin Levels
Expression and Replication Studies to Identify New Candidate Genes Involved in Normal Hearing Function