Area of research
Genetics · Economics and Econometrics
Research interest
Research interests include Exome sequencing, Genetics, Exome, Biology, Medicine, and Phenotype.
Beyond environmental risk: Genetic insights into lung cancer susceptibility through whole exome analysis
Identification of Candidate Genes for Endometriosis in a Three-Generation Family with Multiple Affected Members Using Whole-Exome Sequencing
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer
Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders
Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers
RADX Gene Variant May Predispose to Familial Asperger Syndrome
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders
Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19
Identification of new candidate genes for spina bifida through exome sequencing
Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis
Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results