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
Aberrant 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=20241231040844&v=2.18.0.post9+e462414Exploring 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=20241231040844&v=2.18.0.post9+e462414Possible 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=20241231040844&v=2.18.0.post9+e462414Impact 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=20241231040844&v=2.18.0.post9+e462414Multiple 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=20241231040844&v=2.18.0.post9+e462414Correction 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=20241231040844&v=2.18.0.post9+e462414Expanded 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=20241231040844&v=2.18.0.post9+e462414Cross-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=20241231040844&v=2.18.0.post9+e462414Clinical 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=20241231040844&v=2.18.0.post9+e462414The 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=20241231040844&v=2.18.0.post9+e462414Clinical 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=20241231040844&v=2.18.0.post9+e462414Four-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=20241231040844&v=2.18.0.post9+e462414Specifications 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=20241231040844&v=2.18.0.post9+e462414Generation 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=20241231040844&v=2.18.0.post9+e462414Entering 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=20241231040844&v=2.18.0.post9+e462414Relapse 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=20241231040844&v=2.18.0.post9+e462414Severe 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=20241231040844&v=2.18.0.post9+e462414The 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=20241231040844&v=2.18.0.post9+e462414Adverse 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=20241231040844&v=2.18.0.post9+e462414Case 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=20241231040844&v=2.18.0.post9+e462414Novel 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=20241231040844&v=2.18.0.post9+e462414Surveillance 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=20241231040844&v=2.18.0.post9+e462414Clinical, 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=20241231040844&v=2.18.0.post9+e462414Denosumab 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=20241231040844&v=2.18.0.post9+e462414Occurrence 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=20241231040844&v=2.18.0.post9+e462414How 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=20241231040844&v=2.18.0.post9+e462414Yes-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=20241231040844&v=2.18.0.post9+e462414Imaging 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=20241231040844&v=2.18.0.post9+e462414Novel 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=20241231040844&v=2.18.0.post9+e462414Exon-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=20241231040844&v=2.18.0.post9+e462414Pediatric 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=20241231040844&v=2.18.0.post9+e462414Normocalcemic 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=20241231040844&v=2.18.0.post9+e462414Effectiveness 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=20241231040844&v=2.18.0.post9+e462414The 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=20241231040844&v=2.18.0.post9+e462414Rare 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=20241231040844&v=2.18.0.post9+e462414Mutation 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=20241231040844&v=2.18.0.post9+e462414Water 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=20241231040844&v=2.18.0.post9+e462414Novel 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=20241231040844&v=2.18.0.post9+e462414Correction 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=20241231040844&v=2.18.0.post9+e462414Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations
https://pubmed.ncbi.nlm.nih.gov/31254430/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20241231040844&v=2.18.0.post9+e462414Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2
https://pubmed.ncbi.nlm.nih.gov/30821104/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20241231040844&v=2.18.0.post9+e462414Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants
https://pubmed.ncbi.nlm.nih.gov/30806661/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20241231040844&v=2.18.0.post9+e462414A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1α in a Von Hippel-Lindau Renal Oncocytoma
https://pubmed.ncbi.nlm.nih.gov/30728892/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20241231040844&v=2.18.0.post9+e462414Parathyroid carcinoma
https://pubmed.ncbi.nlm.nih.gov/30551989/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20241231040844&v=2.18.0.post9+e462414Molecular pathogenesis of parathyroid tumours
https://pubmed.ncbi.nlm.nih.gov/30477753/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20241231040844&v=2.18.0.post9+e462414Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
https://pubmed.ncbi.nlm.nih.gov/30376845/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20241231040844&v=2.18.0.post9+e462414A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion
https://pubmed.ncbi.nlm.nih.gov/30161288/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20241231040844&v=2.18.0.post9+e462414Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass
https://pubmed.ncbi.nlm.nih.gov/29915965/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20241231040844&v=2.18.0.post9+e462414Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion
https://pubmed.ncbi.nlm.nih.gov/29755684/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20241231040844&v=2.18.0.post9+e462414The aberrantly expressed miR-372 partly impairs sensitivity to apoptosis in parathyroid tumor cells
https://pubmed.ncbi.nlm.nih.gov/29724878/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20241231040844&v=2.18.0.post9+e462414