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F. Boaretto · SciRah

Researcher profile · Semantic Scholar

F. Boaretto

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F. Boaretto — researcher profile on SciRah

h-index: 20
Works: 45
Citations: 1,822

Most-cited papers

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
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
L. Rampoldi, G. Caridi, D. Santon, F. Boaretto +9 more
2003Human Molecular Genetics226 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
A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype
G. Occhi, D. Regazzo, G. Trivellin, F. Boaretto +12 more
2013PLoS Genetics143 citations Open access
Semantic Scholar
Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database
F. Giusti, L. Cianferotti, F. Boaretto, F. Cetani +24 more
2017Endocrine98 citations Open access
Semantic Scholar
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
E. Gregianin, G. Pallafacchina, S. Zanin, V. Crippa +15 more
2016Human Molecular Genetics97 citations Open access
Semantic Scholar
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.
G. Vazza, M. Zortea, F. Boaretto, G. Micaglio +2 more
2000American Journal of Human Genetics72 citations Open access
Semantic Scholar
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
F. Boaretto, D. Snijders, Cecilia Salvoro, Ambra Spalletta +8 more
2016Journal of Molecular Diagnostics51 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
Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26
G. Vazza, C. Bertolin, E. Scudellaro, Andrea Vettori +6 more
2007Molecular Psychiatry48 citations Open access
Semantic Scholar
Familial mesial temporal lobe epilepsy (FMTLE)
P. Striano, A. Gambardella, A. Coppola, C. Bonaventura +16 more
2007Journal of Neurology40 citations
Semantic Scholar
Maternal and Fetal Outcomes in Pheochromocytoma and Pregnancy: a multi-center retrospective cohort study and systematic review of literature
I. Bancos, E. Atkinson, C. Eng, W. Young +115 more
2020The Lancet Diabetes and Endocrinology38 citations Open access
Semantic Scholar
A novel SACS mutation results in non‐ataxic spastic paraplegia and peripheral neuropathy
E. Gregianin, G. Vazza, E. Scaramel, F. Boaretto +6 more
2013European Journal of Neurology38 citations
Semantic Scholar
Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation
F. Dalpozzo, M. G. Rossetto, F. Boaretto, E. Sartori +4 more
2003Neurology38 citations
Semantic Scholar
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum
Claudia Crimella, A. Arnoldi, F. Crippa, M. Mostacciuolo +14 more
2009Journal of Medical Genetics34 citations
Semantic Scholar
Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families.
P. Striano, A. Gambardella, A. Coppola, C. di Bonaventura +16 more
2008Journal of Neurology34 citations
Semantic Scholar
SEVERE CMT TYPE 2 WITH FATAL ENCEPHALOPATHY ASSOCIATED WITH A NOVEL MFN2 SPLICING MUTATION
F. Boaretto, Andrea Vettori, A. Casarín, G. Vazza +8 more
2010Neurology33 citations
Semantic Scholar
Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database
F. Marini, F. Giusti, C. Fossi, F. Cioppi +23 more
2018Endocrine27 citations Open access
Semantic Scholar
Mutation Analysis of MFN2, GJB1, MPZ and PMP22 in Italian Patients with Axonal Charcot–Marie–Tooth Disease
G. Bergamin, F. Boaretto, C. Briani, E. Pegoraro +6 more
2014Neuromolecular medicine25 citations Open access
Semantic Scholar
Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.
C. Bertolin, C. D'Ascenzo, G. Querin, Alessandra Gaiani +8 more
2014Neurobiology of Aging20 citations
Semantic Scholar
A new mutation in two siblings with cystinosis presenting with Bartter syndrome
M. Pennesi, F. Marchetti, S. Crovella, F. Boaretto +4 more
2005Pediatric nephrology (Berlin, West)19 citations Open access
Semantic Scholar
Novel loss‐of‐function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia
F. Boaretto, M. Cacciavillani, M. Mostacciuolo, Ambra Spalletta +4 more
2015Muscle and Nerve17 citations
Semantic Scholar
Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
C. Bertolin, F. Boaretto, G. Barbon, L. Salviati +6 more
2010Journal of Neurological Sciences15 citations
Semantic Scholar
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature
U. Sorrentino, Chiara Piccolo, C. Rigon, Valeria Brasson +4 more
2021Audiology Research11 citations Open access
Semantic Scholar
A novel missense mutation in the L1CAM gene in a boy with L1 disease
Alessandro Simonati, F. Boaretto, Andrea Vettori, Paolo Dabrilli +3 more
2006Neurological Sciences11 citations
Semantic Scholar
High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites
Nicola Manno, S. Sherratt, F. Boaretto, F. M. Coico +10 more
2014Carbohydrate Polymers10 citations Open access
Semantic Scholar
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report
A. M. Ferrara, M. Sciacco, S. Zovato, S. Rizzati +4 more
2016Cancer research and treatment : official journal of Korean Cancer Association9 citations Open access
Semantic Scholar
Genetics of adrenal tumors.
G. Opocher, F. Schiavi, M. Cicala, A. Patalano +7 more
2009Minerva Endocrinologica9 citations
Semantic Scholar
Novel mutation of the mitofusin 2 gene in a family with Charcot–Marie–Tooth disease type 2
G. Bergamin, C. D. Torre, M. Cacciavillani, M. Lucchetta +4 more
2014Muscle and Nerve7 citations
Semantic Scholar
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome
P. Fortugno, R. Monetta, V. Cinquina, C. Rigon +14 more
2023European Journal of Human Genetics4 citations Open access
Semantic Scholar
The pheochromocytoma and paraganglioma syndrome: founder effects and the PGL 1 syndrome.
G. Opocher, F. Boaretto, V. Pignataro, S. Demattè +3 more
2009Annales d'Endocrinologie3 citations
Semantic Scholar
Quantitative in situ detection of high-risk human papillomavirus in cytological specimens by SYBR Green I fluorescent labeling
S. Crovella, D. Pirulli, D. de Santo, F. De Seta +5 more
2002Clinical and Experimental Medicine (Testo stampato)2 citations
Semantic Scholar
Von Hippel-Lindau disease and multispecialist team.
G. Pavesi, A. Feletti, M. Ferrara, M. Anglani +10 more
2020Journal of Neurosurgical Sciences1 citations Open access
Semantic Scholar
Correction to: Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database
F. Marini, F. Giusti, C. Fossi, F. Cioppi +23 more
2018Endocrine1 citations Open access
Semantic Scholar
Loss-of-function mutations in the SIGMAR 1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca 2 1 signalling
E. Gregianin, G. Pallafacchina, S. Zanin, V. Crippa +15 more
20161 citations
Semantic Scholar
Localization of a new highly repeated DNA sequence of Lemur cafta (Lemuridae, Strepsirhini).
M. Boniotto, M. Ventura, M. F. Cardone, F. Boaretto +3 more
2002Genome1 citations
Semantic Scholar
468PActivity of temozolomide (TMZ) in patients (PTS) with malignant pheochromocytoma or paraganglioma (MPP): A mono-institutional retrospective study
G. Lombardi, M. Ferrara, A. Pambuku, M. Lorusso +7 more
20170 citations Open access
Semantic Scholar
Mutational screening in Italian patients with primary ciliary dyskinesia by next-generation sequencing (NGS)
D. Snijders, F. Boaretto, Cecilia Salvoro, A. Barbato +1 more
20160 citations
Semantic Scholar
Constructs used in transfection experiments.
G. Occhi, D. Regazzo, G. Trivellin, F. Boaretto +12 more
20130 citations Open access
Semantic Scholar
Carbohydrate Polymers
S. Sherratt, F. Boaretto, F. M. Coico, C. Camus +9 more
20110 citations
Semantic Scholar
c.1392+2T>C mutation in MFN2 gene affects splicing in Charcot-Marie-Tooth (CMT) 2A family.
Andrea Vettori, F. Boaretto, G. Vazza, M. Muglia +6 more
20080 citations
Semantic Scholar
Individuation of new mutations in L1CAM gene in patients with L1 diseases.
F. Boaretto, C. Bertolin, G. Vazza, G. Garavelli +4 more
20080 citations
Semantic Scholar
Oral presentations
Alvern Rosas, A. Kasperlik-Zaluska, L. Papierska, BL Bass +12 more
2008Journal of Human Hypertension0 citations
Semantic Scholar
La malattia di von Hippel-Lindau
G. Opocher, A. Feletti, G. Pavesi, F. Schiavi +3 more
20070 citations
Semantic Scholar
Genome scan for schizophrenia/bipolar disorder supports a susceptibility locus in 15q26
G. Vazza, C. Bertolin, E. Scudellaro, Andrea Vettori +6 more
20060 citations
Semantic Scholar

Frequent co-authors

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G. Opocher×16
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Andrea Vettori×9
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