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