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F. Schiavi · SciRah

Researcher profile · Semantic Scholar

F. Schiavi

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F. Schiavi — researcher profile on SciRah

h-index: 35
Works: 124
Citations: 5,694

Most-cited papers

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
I. Comino-Méndez, F. J. Gracia-Aznárez, F. Schiavi, I. Landa +25 more
2011Nature Genetics523 citations Open access
Semantic Scholar
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
Yue-Juan Qin, Li Yao, Elizabeth E. King, K. Buddavarapu +13 more
2010Nature Genetics383 citations Open access
Semantic Scholar
MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
N. Burnichon, A. Cascón, F. Schiavi, Nicole Paes Morales +57 more
2012Clinical Cancer Research336 citations Open access
Semantic Scholar
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.
F. Schiavi, C. Boedeker, B. Bausch, M. Peczkowska +25 more
2005Journal of the American Medical Association (JAMA)326 citations
Semantic Scholar
Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.
M. Mannelli, M. Castellano, F. Schiavi, S. Filetti +21 more
2009Journal of Clinical Endocrinology and Metabolism307 citations Open access
Semantic Scholar
Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis
S. Cardaci, Liang Zheng, G. Mackay, N. V. D. van den Broek +13 more
2015Nature Cell Biology272 citations Open access
Semantic Scholar
Surgical Versus Conservative Management for Subclinical Cushing Syndrome in Adrenal Incidentalomas: A Prospective Randomized Study
A. Toniato, Isabella Merante-Boschin, G. Opocher, M. Pelizzo +2 more
2009Annals of Surgery223 citations Open access
Semantic Scholar
Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas.
E. López-Jiménez, G. Gómez-López, L. Leandro-García, I. Muñoz +20 more
2010Molecular Endocrinology211 citations Open access
Semantic Scholar
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
Li Yao, F. Schiavi, A. Cascón, Yue-Juan Qin +30 more
2010Journal of the American Medical Association (JAMA)209 citations
Semantic Scholar
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention
B. Bausch, F. Schiavi, Y. Ni, J. Welander +40 more
2017JAMA Oncology182 citations Open access
Semantic Scholar
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.
H. Neumann, Zoran Erlic, C. Boedeker, L. Rybicki +59 more
2009Cancer Research182 citations Open access
Semantic Scholar
The Variant rs1867277 in FOXE1 Gene Confers Thyroid Cancer Susceptibility through the Recruitment of USF1/USF2 Transcription Factors
I. Landa, S. Ruiz-Llorente, C. Montero‐Conde, L. Inglada-Pérez +29 more
2009PLoS Genetics171 citations Open access
Semantic Scholar
Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study.
F. Castinetti, Xiao-Ping Qi, M. Walz, A. L. Maia +55 more
2014The Lancet Oncology139 citations Open access
Semantic Scholar
Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency.
S. Richter, M. Peitzsch, E. Rapizzi, J. Lenders +12 more
2014Journal of Clinical Endocrinology and Metabolism132 citations Open access
Semantic Scholar
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
B. Bausch, W. Borozdin, V. Mautner, M. M. Hoffmann +34 more
2007Journal of Clinical Endocrinology and Metabolism127 citations
Semantic Scholar
Long-term prognosis of patients with pediatric pheochromocytoma.
B. Bausch, U. Wellner, D. Bausch, F. Schiavi +24 more
2013Endocrine-Related Cancer125 citations Open access
Semantic Scholar
Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
P. Sartorato, E. Zulian, S. Benedini, B. Mariniello +7 more
2007Journal of Clinical Endocrinology and Metabolism121 citations Open access
Semantic Scholar
Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy
H. Neumann, U. Tsoy, I. Bancos, V. Amodru +44 more
2019JAMA Network Open118 citations Open access
Semantic Scholar
Elevated expression of luteinizing hormone receptor in aldosterone-producing adenomas.
Karla Saner-Amigh, B. Mayhew, F. Mantero, F. Schiavi +3 more
2006Journal of Clinical Endocrinology and Metabolism103 citations
Semantic Scholar
Gain-of-function mutations in DNMT3A in patients with paraganglioma
Laura Remacha, M. Currás-Freixes, R. Torres-Ruíz, F. Schiavi +22 more
2018Genetics in Medicine85 citations Open access
Semantic Scholar
Peptide Receptor Radionuclide Therapy (PRRT) with 177Lu-DOTATATE in Individuals with Neck or Mediastinal Paraganglioma (PGL)
S. Zovato, A. Kumanova, S. Demattè, M. Sansovini +8 more
2012Hormone and Metabolic Research81 citations
Semantic Scholar
Neoadjuvant Chemotherapy and Immunotherapy in Luminal B-like Breast Cancer: Results of the Phase II GIADA Trial
M. Dieci, V. Guarneri, A. Tosi, G. Bisagni +14 more
2021Clinical Cancer Research79 citations Open access
Semantic Scholar
Genetics of pheochromocytomas and paragangliomas.
G. Opocher, F. Schiavi
2010Best practice & research. Clinical endocrinology & metabolism74 citations
Semantic Scholar
Are we overestimating the penetrance of mutations in SDHB?
F. Schiavi, R. Milne, E. Anda, P. Blay +4 more
2010Human Mutation70 citations Open access
Semantic Scholar
65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma.
H. Neumann, W. Young, T. Krauss, J. Bayley +26 more
2018Endocrine-Related Cancer62 citations Open access
Semantic Scholar
Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
B. Bausch, U. Wellner, M. Peyre, C. Boedeker +26 more
2016Head and Neck62 citations Open access
Semantic Scholar
DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers
A. D. de Cubas, E. Korpershoek, L. Inglada-Pérez, E. Letouzé +17 more
2015Clinical Cancer Research62 citations Open access
Semantic Scholar
Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways.
A. D. de Cubas, L. Leandro-García, F. Schiavi, V. Mančíková +17 more
2013Endocrine-Related Cancer57 citations Open access
Semantic Scholar
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
T. Krauss, A. M. Ferrara, T. Links, U. Wellner +73 more
2018Endocrine-Related Cancer56 citations Open access
Semantic Scholar
Parathyroid Scintigraphy in Renal Hyperparathyroidism
D. Taïeb, P. Ureña-Torres, P. Zanotti-Fregonara, D. Rubello +8 more
2013Clinical Nuclear Medicine51 citations Open access
Semantic Scholar
Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations
V. Mančíková, R. Cruz, L. Inglada-Pérez, C. Fernández-Rozadilla +17 more
2015International Journal of Cancer50 citations Open access
Semantic Scholar
Von Hippel-Lindau disease: an evaluation of natural history and functional disability.
A. Feletti, M. Anglani, B. Scarpa, F. Schiavi +9 more
2016Neuro-Oncology48 citations Open access
Semantic Scholar
Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions.
A. Maliszewska, L. Leandro-García, E. Castelblanco, A. Macià +20 more
2013American Journal of Pathology41 citations Open access
Semantic Scholar
Is genetic screening indicated in apparently sporadic pheochromocytomas and paragangliomas?
M. Iacobone, F. Schiavi, Marzia Bottussi, E. Taschin +4 more
2011Surgery35 citations
Semantic Scholar
Functional and in silico assessment of MAX variants of unknown significance
I. Comino-Méndez, L. Leandro-García, G. Montoya, L. Inglada-Pérez +18 more
2015Journal of molecular medicine29 citations
Semantic Scholar
A Novel MAX Gene Mutation Variant in a Patient With Multiple and “Composite” Neuroendocrine–Neuroblastic Tumors
C. Pozza, F. Sesti, C. di Dato, E. Sbardella +7 more
2020Frontiers in Endocrinology28 citations Open access
Semantic Scholar
A registry-based study of thyroid paraganglioma: histological and genetic characteristics.
E. von Dobschuetz, H. Leijon, C. Schalin-Jäntti, F. Schiavi +27 more
2015Endocrine-Related Cancer28 citations Open access
Semantic Scholar
Paragangliomas arise through an autonomous vasculo-angio-neurogenic program inhibited by imatinib
F. Verginelli, Silvia Perconti, S. Vespa, F. Schiavi +24 more
2018Acta Neuropathologica27 citations Open access
Semantic Scholar
The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.
F. Schiavi, S. Demattè, M. E. Cecchini, E. Taschin +17 more
2012Journal of Clinical Endocrinology and Metabolism26 citations
Semantic Scholar
Paraganglioma Syndrome
F. Schiavi, T. Savvoukidis, F. Trabalzini, F. Grego +9 more
200625 citations
Semantic Scholar
Peptide receptor radionuclide therapy in a case of multiple spinal canal and cranial paragangliomas.
D. Cecchin, F. Schiavi, S. Fanti, M. Favero +8 more
2011Journal of Clinical Oncology24 citations
Semantic Scholar
Tympanojugular Paragangliomas: Surgical Management and Clinicopathological Features
S. C. Prasad, C. Paties, F. Schiavi, D. Esposito +3 more
2019Paraganglioma: A Multidisciplinary Approach21 citations Open access
Semantic Scholar
Functional consequences of succinate dehydrogenase mutations.
G. Opocher, F. Schiavi
2011Endocrine Practice21 citations
Semantic Scholar
Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas.
F. Schiavi, T. Savvoukidis, F. Trabalzini, F. Grego +9 more
2006Annals of the New York Academy of Sciences21 citations
Semantic Scholar
18F-DOPA PET/CT in the Evaluation of Hereditary SDH-Deficiency Paraganglioma-Pheochromocytoma Syndromes
M. C. Marzola, S. Chondrogiannis, G. Grassetto, L. Rampin +6 more
2014Clinical Nuclear Medicine20 citations
Semantic Scholar
Multi-Design Differential Expression Profiling of COVID-19 Lung Autopsy Specimens Reveals Significantly Deregulated Inflammatory Pathways and SFTPC Impaired Transcription
M. Fassan, A. Collesei, Valentina Angerilli, M. Sbaraglia +15 more
2022Cells18 citations Open access
Semantic Scholar
Case Report: BAP1 Mutation and RAD21 Amplification as Predictive Biomarkers to PARP Inhibitor in Metastatic Intrahepatic Cholangiocarcinoma
F. Sabbatino, Luigi Liguori, U. Malapelle, F. Schiavi +6 more
2020Frontiers in Oncology17 citations Open access
Semantic Scholar
Familial Nonsyndromic Pheochromocytoma
G. Opocher, F. Schiavi, M. Iacobone, A. Toniato +11 more
2006Annals of the New York Academy of Sciences17 citations
Semantic Scholar
Temozolomide treatment of a malignant pheochromocytoma and an unresectable MAX-related paraganglioma
A. M. Ferrara, G. Lombardi, A. Pambuku, D. Meringolo +7 more
2018Anti-Cancer Drugs16 citations
Semantic Scholar
First steps to define murine amniotic fluid stem cell microenvironment
E. Bertin, M. Piccoli, C. Franzin, Giovanna Spiro +8 more
2016Scientific Reports11 citations Open access
Semantic Scholar

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