Publications

Genetic and Epigenetic Characterization of a Discordant KMT2A/AFF1-Rearranged Infant Monozygotic Twin Pair
Cell‐free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity
Elovl5 is required for proper action potential conduction along peripheral myelinated fibers
New DNA Methylation Signals for Malignant Pleural Mesothelioma Risk Assessment
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy
Functional and clinical implications of genetic structure in 1686 Italian exomes
DNA Methylation of FKBP5 as Predictor of Overall Survival in Malignant Pleural Mesothelioma
Small Non-Coding RNA Profiling in Plasma Extracellular Vesicles of Bladder Cancer Patients by Next-Generation Sequencing: Expression Levels of miR-126-3p and piR-5936 Increase with Higher Histologic Grades
Genomewide Association Study of Severe Covid-19 with Respiratory Failure
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification
Therapeutic application of allele-specific silencing by siRNA for gene duplication disorders: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD)
Consumption of Meat, Fish, Dairy Products, and Eggs and Risk of Ischemic Heart Disease
Genetic predisposition for malignant mesothelioma: A concise review
Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9
A bird's-eye view of Italian genomic variation through whole-genome sequencing
Ancient Rome: A genetic crossroads of Europe and the Mediterranean
Improving the prediction of cardiovascular risk with machine-learning and DNA methylation data
Prognostic value of blood DNA methylation in Malignant Pleural Mesothelioma
Advances in the Genetics of Hypertension: The Effect of Rare Variants
Peripheral blood DNA methylation as potential biomarker of Malignant Pleural Mesothelioma in asbestos-exposed subjects
Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults
Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation
A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Genomics publications