Biography
Vito Guarnieri got the specialty in Applied Genetics at the University Sapienza in Rome in 2003 and the PhD in Genetics and Molecular Evolution at the University of Bari in 2007. In 2008 - 2009 he moved as Visitor Scholar at the McGill University/Royal Victoria Hospital in Montreal at the Calcium Research Laboratory.
Currently, he is a geneticist at the Medical Genetics Service of the Scientific Institute CSS in San Giovanni Rotondo, South Italy, where he is responsible for molecular diagnosis of calcium dismetabolism genetic diseases, with particular interest on Primary Hyperparathyroidism and associated endophenotypes (FHH, NSHPT, HPT-JT, MEN1, MEN2A, MEN4). In addition, he is currently working on phosphate dismetabolism with molecular diagnosis of hypophosphatasia and tumoral calcinosis.
In 2012 he got a Young Investigator Research Grant from the Italian Ministry of Health: the project focused on the search for biomarkers of aggressive parathyroid malignancies, by through a multifaceted approach of whole exome sequencing, gene expression profiling and proteome analysis on rare families with Hyperparathyroidism with Jaw-Tumours syndrome (CDC73 gene)
He is responsible of the molecular diagnosis of genetic diseases related to calcium metabolism disorders (pHPT, HPT-JT, FHH, MEN1/2/4, FIHP) and joint laxity and hypermobility sindromes (Elhers-Danlos type), by a targeted resequencing approach with a panel of 70 selected genes.
Awards
Grants
- FAMILIA: FAmily-based MuLti-Integrated Approach for the identification of a non-redundant set of parathyroid cancer biomarkers
List of 5 Best Publications
Functional and In Silico Characterization of ALPL Gene Variants Reveals Genotype-Phenotype Correlations in Italian Hypophosphatasia Patients
https://pubmed.ncbi.nlm.nih.gov/41294821/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study
https://pubmed.ncbi.nlm.nih.gov/41287064/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2The clinical challenge of MEN1 phenocopies: insights from a multicentric national retrospective study
https://pubmed.ncbi.nlm.nih.gov/41222883/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Public health impact of nirsevimab and reduction of RSV hospitalisation in all infants: early real-world data from Tuscany (Italy) in the 2024-25 RSV season
https://pubmed.ncbi.nlm.nih.gov/41182397/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Molecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience
https://pubmed.ncbi.nlm.nih.gov/41171600/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2A novel missense variant of the calcium-sensing receptor gene associated with familial hypocalciuric hypercalcemia
https://pubmed.ncbi.nlm.nih.gov/40978122/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Bordetella pertussis in hospitalised children and adolescents: the impact of vaccination delay, Tuscany, Italy, 2016 to 2024
https://pubmed.ncbi.nlm.nih.gov/40878704/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Understanding obesity in children with 22q11.2 deletion syndrome
https://pubmed.ncbi.nlm.nih.gov/40822943/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Phosphate metabolism in primary hyperparathyroidism: a real-life long-term study
https://pubmed.ncbi.nlm.nih.gov/39934509/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation
https://pubmed.ncbi.nlm.nih.gov/39915350/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2The dilemma of X-linked agammaglobulinemia carriers
https://pubmed.ncbi.nlm.nih.gov/39867744/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Aberrant promoter methylation, expression and function of RASSF1A gene in a series of Italian parathyroid tumors
https://pubmed.ncbi.nlm.nih.gov/39607643/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Exploring Risk Factors Associated With Intensive Care Unit Admission in a Retrospective Cohort of 631 Children With Bronchiolitis
https://pubmed.ncbi.nlm.nih.gov/39545630/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Possible role of bone turnover markers in the diagnosis of adult hypophosphatasia
https://pubmed.ncbi.nlm.nih.gov/39498489/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Impact of respiratory syncytial virus on older children: Exploring the potential for preventive strategies beyond the age of 2 years
https://pubmed.ncbi.nlm.nih.gov/39079812/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Multiple Endocrine Neoplasia Type 1 Regulates TGFβ-Mediated Suppression of Tumor Formation and Metastasis in Melanoma
https://pubmed.ncbi.nlm.nih.gov/38891107/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Correction to: The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion
https://pubmed.ncbi.nlm.nih.gov/38853196/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Expanded Newborn Screening for Inborn Errors of Immunity: The Experience of Tuscany
https://pubmed.ncbi.nlm.nih.gov/38636590/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Cross-sectional survey evaluating the psychological impact of the COVID-19 vaccination campaign in patients with cancer: The VACCINATE study
https://pubmed.ncbi.nlm.nih.gov/38271378/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors
https://pubmed.ncbi.nlm.nih.gov/37761922/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion
https://pubmed.ncbi.nlm.nih.gov/37752373/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
https://pubmed.ncbi.nlm.nih.gov/37600704/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Four-Component Recombinant Protein-Based Vaccine Effectiveness Against Serogroup B Meningococcal Disease in Italy
https://pubmed.ncbi.nlm.nih.gov/37594762/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
https://pubmed.ncbi.nlm.nih.gov/37079061/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene
https://pubmed.ncbi.nlm.nih.gov/36638628/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Entering the era of phage therapy: A 'happy hour' for inflammatory bowel diseases
https://pubmed.ncbi.nlm.nih.gov/36600597/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Relapse or worsening of chronic spontaneous urticaria during SARS-CoV-2 infection and vaccination in children: A telemedicine follow-up
https://pubmed.ncbi.nlm.nih.gov/36156167/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Severe pertussis disease in a paediatric population: The role of age, vaccination status and prematurity
https://pubmed.ncbi.nlm.nih.gov/35638439/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2The Long Non-Coding BC200 Is a Novel Circulating Biomarker of Parathyroid Carcinoma
https://pubmed.ncbi.nlm.nih.gov/35586620/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Adverse reactions to BNT162B2 vaccine in health care workers from an Italian Tertiary Care Hospital
https://pubmed.ncbi.nlm.nih.gov/35491497/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Case Report: Unusual Presentations of Loss-of-Function Mutations of the Calcium-Sensing Receptor
https://pubmed.ncbi.nlm.nih.gov/35141253/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders
https://pubmed.ncbi.nlm.nih.gov/35038313/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Surveillance on Healthcare Workers During the First Wave of SARS-CoV-2 Pandemic in Italy: The Experience of a Tertiary Care Pediatric Hospital
https://pubmed.ncbi.nlm.nih.gov/34381749/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia
https://pubmed.ncbi.nlm.nih.gov/34213743/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Denosumab for the treatment of primary pediatric osteoporosis
https://pubmed.ncbi.nlm.nih.gov/33987688/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Occurrence of chronic myeloid leukemia in a patient with CDC73 gene deletion: "Chance or Causality?"
https://pubmed.ncbi.nlm.nih.gov/33949110/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2How home anterior self-collected nasal swab simplifies SARS-CoV-2 testing: new surveillance horizons in public health and beyond
https://pubmed.ncbi.nlm.nih.gov/33743711/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Yes-Associated Protein 1 Is a Novel Calcium Sensing Receptor Target in Human Parathyroid Tumors
https://pubmed.ncbi.nlm.nih.gov/33670622/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Imaging technologies in the differential diagnosis and follow-up of brown tumor in primary hyperparathyroidism: Case report and review of the literature
https://pubmed.ncbi.nlm.nih.gov/33506077/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature
https://pubmed.ncbi.nlm.nih.gov/33352647/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
https://pubmed.ncbi.nlm.nih.gov/33348901/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Pediatric Allergy and Immunology Practice During the COVID-19 Pandemic in Italy: Perspectives, Challenges, and Opportunities
https://pubmed.ncbi.nlm.nih.gov/33330268/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Normocalcemic primary hyperparathyroidism: an update
https://pubmed.ncbi.nlm.nih.gov/33103871/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Effectiveness and Impact of the 4CMenB Vaccine against Group B Meningococcal Disease in Two Italian Regions Using Different Vaccination Schedules: A Five-Year Retrospective Observational Study (2014-2018)
https://pubmed.ncbi.nlm.nih.gov/32842669/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2The Oncosuppressors MEN1 and CDC73 Are Involved in lncRNA Deregulation in Human Parathyroid Tumors
https://pubmed.ncbi.nlm.nih.gov/32780442/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma
https://pubmed.ncbi.nlm.nih.gov/32411220/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Mutation of PFN1 Gene in an Early Onset, Polyostotic Paget-like Disease
https://pubmed.ncbi.nlm.nih.gov/32392277/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Water and microbial monitoring technologies towards the near future space exploration
https://pubmed.ncbi.nlm.nih.gov/32315899/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome
https://pubmed.ncbi.nlm.nih.gov/31775249/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
https://pubmed.ncbi.nlm.nih.gov/31771548/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20260106211350&v=2.18.0.post22+67771e2