Publications

A bird's-eye view of Italian genomic variation through whole-genome sequencing
A clinically compatible drug-screening platform based on organotypic cultures identifies vulnerabilities to prevent and treat brain metastasis
A Deep-Learning Sequence-Based Method to Predict Protein Stability Changes Upon Genetic Variations
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD)
A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes
A novel CCT5 missense variant associated with early onset motor neuropathy.
A novel COLEC10 mutation in a child with 3MC syndrome
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
Adipocyte-derived extracellular vesicles regulate survival and function of pancreatic β cells
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
Advances in the Genetics of Hypertension: The Effect of Rare Variants
ALK expression favorably impacts the prognosis of NRAS-mutated metastatic melanomas
An antisymmetric neural network to predict free energy changes in protein variants
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy
Ancient Rome: A genetic crossroads of Europe and the Mediterranean
Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults
Atrial Fibrillation after orthotopic heart transplantatation: Pathophysiology and clinical impact
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot
Basic principles of biobanking: from biological samples to precision medicine for patients
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Bidirectional linkage between the B-cell receptor and NOTCH1 in chronic lymphocytic leukemia and in Richter's syndrome: therapeutic implications
Birthweight DNA methylation signatures in infant saliva
Blood-brain Barrier Impairment in Patients Living with HIV: Predictors and Associated Biomarkers
Calibrating variant-scoring methods for clinical decision making
Cancers emerging early in adulthood: Analysis of trends and patterns in European cancer registries
Castration-Induced Downregulation of SPARC in Stromal Cells Drives Neuroendocrine Differentiation of Prostate Cancer
Caveolin-1 expression predicts favourable outcome and correlates with PDGFRA mutations in gastrointestinal stromal tumours (GISTs)
CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.
Cell‐free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5)
Cold formalin fixation guarantees DNA integrity in formalin fixed paraffin embedded tissues: premises for a better quality of diagnostic and experimental pathology with a specific impact on breast cancer
Cold formalin fixation guarantees DNA integrity in formalin fixed paraffin embedded tissues: premises for a better quality of diagnostic and experimental pathology with a specific impact on breast cancer
Consumption of Meat, Fish, Dairy Products, and Eggs and Risk of Ischemic Heart Disease
Context dependency of nucleotide probabilities and variants in human DNA
COVseq is a cost-effective workflow for mass-scale SARS-CoV-2 genomic surveillance
Crosstalk between Irisin Levels, Liver Fibrogenesis and Liver Damage in Non-Obese, Non-Diabetic Individuals with Non-Alcoholic Fatty Liver Disease
Current cancer driver variant predictors learn to recognize driver genes instead of functional variants
CUTseq is a versatile method for preparing multiplexed DNA sequencing libraries from low-input samples
DDGun: an untrained method for the prediction of protein stability changes upon single and multiple point variations
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification
Determination of saliva epigenetic age in infancy, and its association with parental socio-economic characteristics and pregnancy outcomes
Differentially methylated DNA regions in early childhood wheezing: An epigenome-wide study using saliva
DNA Methylation of FKBP5 as Predictor of Overall Survival in Malignant Pleural Mesothelioma
DNA methylation profiling discriminates between malignant pleural mesothelioma and neoplastic or reactive histological mimics
DNA sequence symmetries from randomness: the origin of the Chargaff's second parity rule
Ectonucleotidases in Blood Malignancies: A Tale of Surface Markers and Therapeutic Targets
Effects of eight neuropsychiatric copy number variants on human brain structure
Elovl5 is required for proper action potential conduction along peripheral myelinated fibers
Establishment and Characterization of a New Intrahepatic Cholangiocarcinoma Cell Line Resistant to Gemcitabine
Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants
Evaluation of global and intragenic hypomethylation in colorectal adenomas improves patient stratification and colorectal cancer risk prediction
Evaluation of Graft Fibrosis, Inflammation, and Donor-specific Antibodies at Protocol Liver Biopsies in Pediatric Liver Transplant Patients: A Single-center Experience
Evolving concepts in HER2 evaluation in breast cancer: Heterogeneity, HER2-low carcinomas and beyond
Extracellular nicotinate phosphoribosyltransferase binds Toll like receptor 4 and mediates inflammatioEctonucleotidases in Blood Malignancies: A Tale of Surface Markers and Therapeutic Target
Fido-SNP: the first webserver for scoring the impact of single nucleotide variants in the dog genome
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
Functional and clinical implications of genetic structure in 1686 Italian exomes
Genetic and Epigenetic Characterization of a Discordant KMT2A/AFF1-Rearranged Infant Monozygotic Twin Pair
Genetic predisposition for malignant mesothelioma: A concise review
Genomewide Association Study of Severe Covid-19 with Respiratory Failure
Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye and multi-system abnormalities
High BRAF variant allele frequencies are associated with distinct pathological features and responsiveness to target therapy in melanoma patients
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
HLA and AB0 Polymorphisms May Influence SARS-CoV-2 Infection and COVID-19 Severity
HLA-DRB1 mismatch-based identification of donor-derived cell free DNA (dd-cfDNA) as a marker of rejection in heart transplant recipients: A single-institution pilot study.
Identification of 22 susceptibility loci associated with testicular germ cell tumors
Improving the prediction of cardiovascular risk with machine-learning and DNA methylation data
Insulin Resistance across the Spectrum of Nonalcoholic Fatty Liver Disease
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Limitations and challenges in protein stability prediction upon genome variations: towards future applications in precision medicine
Long-term outcomes and predictive ability of non-invasive scoring systems in patients with non-alcoholic fatty liver disease.
Metastatic colorectal cancer prior to expanded RAS assessment: evidence from long-term outcome analysis of a real-life cohort within a dedicated colorectal cancer unit
Microenvironment in cutaneous melanomas: a gene expression profile study may explain the role of histological regression Supporto per screen reader attivato.
MicroRNA 146a is associated with diabetic complications in type 1 diabetic patients from the EURODIAB PCS
MiR-200c-3p contrasts PD-L1 induction by combinatorial therapies and slows proliferation of epithelial ovarian cancer through downregulation of β-catenin and c-Myc
Missense variant contribution to USP9X female syndrome
Motor and cognitive outcomes of cerebello-spinal stimulation in neurodegenerative ataxia
Motor and cognitive outcomes of cerebello-spinal stimulation in neurodegenerative ataxia
Motor and cognitive outcomes of cerebello-spinal stimulation in neurodegenerative ataxia
NAD-Biosynthetic and Consuming Enzymes as Central Players of Metabolic Regulation of Innate and Adaptive Immune Responses in Cancer
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations
Necroptosis-driving genes RIPK1, RIPK3 and MLKL-p are associated with intratumoral CD3+ and CD8+ T cell density and predict prognosis in hepatocellular carcinoma
New DNA Methylation Signals for Malignant Pleural Mesothelioma Risk Assessment
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient
NTRK Fusions in Central Nervous System Tumors: A Rare, but Worthy Target
On the biases in predictions of protein stability changes upon variations: the INPS test case
On the critical review of five machine learning-based algorithms for predicting protein stability changes upon mutation
On the Upper Bounds of the Real-Valued Predictions
PAX8-GLIS3 gene fusion is a pathognomonic genetic alteration of hyalinizing trabecular tumors of the thyroid
Peripheral blood DNA methylation as potential biomarker of Malignant Pleural Mesothelioma in asbestos-exposed subjects
Pharmacogenetic determinants of kidney-associated urinary and serum abnormalities in antiretroviral-treated HIV-positive patients

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Publications