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
Clinical 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=20230924013256&v=2.17.9.post6+86293acFour-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=20230924013256&v=2.17.9.post6+86293acSpecifications 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=20230924013256&v=2.17.9.post6+86293acGeneration 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=20230924013256&v=2.17.9.post6+86293acEntering 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=20230924013256&v=2.17.9.post6+86293acRelapse 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=20230924013256&v=2.17.9.post6+86293acSevere 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=20230924013256&v=2.17.9.post6+86293acThe 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=20230924013256&v=2.17.9.post6+86293acAdverse 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=20230924013256&v=2.17.9.post6+86293acCase 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=20230924013256&v=2.17.9.post6+86293acNovel 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=20230924013256&v=2.17.9.post6+86293acSurveillance 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=20230924013256&v=2.17.9.post6+86293acClinical, 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=20230924013256&v=2.17.9.post6+86293acDenosumab 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=20230924013256&v=2.17.9.post6+86293acOccurrence 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=20230924013256&v=2.17.9.post6+86293acHow 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=20230924013256&v=2.17.9.post6+86293acYes-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=20230924013256&v=2.17.9.post6+86293acIndependent Validation of the PAM50-Based Chemo-Endocrine Score (CES) in Hormone Receptor-Positive HER2-Positive Breast Cancer Treated with Neoadjuvant Anti-HER2-Based Therapy
https://pubmed.ncbi.nlm.nih.gov/33632929/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20230924013256&v=2.17.9.post6+86293acImaging 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=20230924013256&v=2.17.9.post6+86293acNovel 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=20230924013256&v=2.17.9.post6+86293acExon-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=20230924013256&v=2.17.9.post6+86293acPediatric 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=20230924013256&v=2.17.9.post6+86293acNormocalcemic 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=20230924013256&v=2.17.9.post6+86293acEffectiveness 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=20230924013256&v=2.17.9.post6+86293acThe 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=20230924013256&v=2.17.9.post6+86293acRare 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=20230924013256&v=2.17.9.post6+86293acMutation 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=20230924013256&v=2.17.9.post6+86293acWater 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=20230924013256&v=2.17.9.post6+86293acNovel 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=20230924013256&v=2.17.9.post6+86293acCorrection 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=20230924013256&v=2.17.9.post6+86293acMolecular 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=20230924013256&v=2.17.9.post6+86293acCardiac 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=20230924013256&v=2.17.9.post6+86293acMutational 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=20230924013256&v=2.17.9.post6+86293acA 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=20230924013256&v=2.17.9.post6+86293acParathyroid 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=20230924013256&v=2.17.9.post6+86293acMolecular 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=20230924013256&v=2.17.9.post6+86293acCase 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=20230924013256&v=2.17.9.post6+86293acA 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=20230924013256&v=2.17.9.post6+86293acClinical 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=20230924013256&v=2.17.9.post6+86293acLarge 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=20230924013256&v=2.17.9.post6+86293acThe 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=20230924013256&v=2.17.9.post6+86293acMEN1 gene mutation with parathyroid carcinoma: first report of a familial case
https://pubmed.ncbi.nlm.nih.gov/29097378/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20230924013256&v=2.17.9.post6+86293acAutosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism
https://pubmed.ncbi.nlm.nih.gov/28938448/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20230924013256&v=2.17.9.post6+86293acExpression, function, and regulation of the embryonic transcription factor TBX1 in parathyroid tumors
https://pubmed.ncbi.nlm.nih.gov/28920943/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20230924013256&v=2.17.9.post6+86293acErratum to: Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
https://pubmed.ncbi.nlm.nih.gov/28903740/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20230924013256&v=2.17.9.post6+86293acPrimary aldosteronism as a cause of secondary osteoporosis
https://pubmed.ncbi.nlm.nih.gov/28794160/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20230924013256&v=2.17.9.post6+86293acLarge intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
https://pubmed.ncbi.nlm.nih.gov/28774260/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20230924013256&v=2.17.9.post6+86293acNovel association of MEN1 gene mutations with parathyroid carcinoma
https://pubmed.ncbi.nlm.nih.gov/28693130/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20230924013256&v=2.17.9.post6+86293acAlterations of DNA methylation in parathyroid tumors
https://pubmed.ncbi.nlm.nih.gov/28501573/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20230924013256&v=2.17.9.post6+86293acFilamin A is reduced and contributes to the CASR sensitivity in human parathyroid tumors
https://pubmed.ncbi.nlm.nih.gov/27872158/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1-5bL_puEdEb3Dv1sTKX3eUP6ZU5LW0jDYkS0LKsjVzZZqAEH3&fc=None&ff=20230924013256&v=2.17.9.post6+86293ac