Area of research
Pathology and Forensic Medicine · Genetics
Research interest
Research interests include Genetic factors in colorectal cancer, Cancer Genomics and Diagnostics, BRCA gene mutations in cancer, and Colorectal Cancer Screening and Detection.
Cascade counselling and testing. Recommendations of the European Society of Human Genetics.
NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory Disorders.
A New Hypothesis on the Etiology of Down Syndrome: The Role of Anti-Zona Pellucida Antibodies as an Age-Independent Factor.
Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.
NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory Disorders
No correlations between genotype and neurodevelopmental or cancer phenotypes in a cohort of PTEN Hamartoma Tumour Syndrome (PHTS) patients
Advancing towards clear and patient-centred language in cancer genetics.
Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.
Solid Tumors in RASopathies: Insights from a Large Monocentric Cohort and Systematic Review of the Literature
The challenge of ultra-rare, overlooked cancer predisposition syndromes
<b>: unveiling the role of cancer genome profiling</b>
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.
A novel <i>ABCB11</i> variant in compound heterozygosity: BRIC2 or PFIC2?
Update of penetrance estimates in Birt-Hogg-Dubé syndrome
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'.
Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'.
European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer.
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
The challenge of the Molecular Tumor Board empowerment in clinical oncology practice: A Position Paper on behalf of the AIOM- SIAPEC/IAP-SIBioC-SIC-SIF-SIGU-SIRM Italian Scientific Societies.
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?
Gastrointestinal manifestations in PTEN hamartoma tumor syndrome.
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making.
Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice.
Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice.
European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer