Area of research
Genetics · Cognitive Neuroscience
Research interest
Research interests include Autism Spectrum Disorder Research, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, and Genomics and Rare Diseases.
Deleterious coding variation associated with autism is shared across ancestries
Family history enrichment in Non-Small cell Lung Cancer: A cross-sectional − prospective study to inform referral for germline testing
520P Enriching for pathogenic germline variants (PGVs) in lung cancer (LC): A systematic review of patient selection strategies
369P Family history of cancer (FHC) in non-small cell lung cancer (NSCLC): A cross-sectional-prospective study to guide germline referral
Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview
Exome Sequencing Uncovers Genetic Drivers of Multiple Sclerosis in a Multiplex Family
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?
BRAF Mutations in Melanoma: Biological Aspects, Therapeutic Implications, and Circulating Biomarkers
Phytochemicals as Immunomodulatory Agents in Melanoma
Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder
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
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
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
Editorial: Epigenetics of Neurodevelopmental, Neuromuscular and Neurodegenerative Disorders
Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Melanoma Cell Resistance to Vemurafenib Modifies Inter-Cellular Communication Signals
SARS‐CoV‐2 AY.4.2 variant circulating in Italy: Genomic preliminary insight
Reevaluation of Serum Arylesterase Activity in Neurodevelopmental Disorders
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