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F. Gianfrancesco · SciRah

Researcher profile · Semantic Scholar

F. Gianfrancesco

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F. Gianfrancesco — researcher profile on SciRah

h-index: 30
Works: 113
Citations: 3,340

Most-cited papers

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone
O. Albagha, S. Wani, M. Visconti, N. Alonso +25 more
2011Nature Genetics172 citations Open access
Semantic Scholar
FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women.
D. Rendina, F. Gianfrancesco, G. De Filippo, D. Merlotti +6 more
2010European Journal of Endocrinology101 citations Open access
Semantic Scholar
Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer
P. Baldinu, A. Cossu, A. Manca, M. Satta +10 more
2004Human Mutation101 citations Open access
Semantic Scholar
SQSTM1 gene analysis and gene‐environment interaction in Paget's disease of bone
L. Gennari, F. Gianfrancesco, M. D. Di Stefano, D. Rendina +14 more
2010Journal of Bone and Mineral Research84 citations
Semantic Scholar
Identification of sixteen novel candidate genes for late onset Parkinson’s disease
A. Gialluisi, M. G. Reccia, N. Modugno, T. Nutile +173 more
2021Molecular Neurodegeneration80 citations Open access
Semantic Scholar
piR_015520 Belongs to Piwi-Associated RNAs Regulates Expression of the Human Melatonin Receptor 1A Gene
T. Esposito, S. Magliocca, D. Formicola, F. Gianfrancesco
2011PLoS ONE78 citations Open access
Semantic Scholar
Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate.
F. Gianfrancesco, T. Esposito, M. Ombra, P. Forabosco +10 more
2003American Journal of Human Genetics75 citations Open access
Semantic Scholar
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor
Giuseppina Divisato, D. Formicola, T. Esposito, D. Merlotti +13 more
2016American Journal of Human Genetics74 citations Open access
Semantic Scholar
Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease
O. Albagha, M. Visconti, N. Alonso, S. Wani +19 more
2013Journal of Bone and Mineral Research58 citations Open access
Semantic Scholar
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix
S. Sampaolo, F. Napolitano, A. Tirozzi, M. G. Reccia +8 more
2017Journal of Medical Genetics48 citations
Semantic Scholar
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy
T. Esposito, S. Sampaolo, G. Limongelli, A. Varone +7 more
2013Orphanet Journal of Rare Diseases47 citations Open access
Semantic Scholar
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility
D. Formicola, A. Aloia, S. Sampaolo, O. Farina +5 more
2010BMC Medical Genetics47 citations Open access
Semantic Scholar
Clinical Characteristics and Evolution of Giant Cell Tumor Occurring in Paget's Disease of Bone
D. Rendina, G. De Filippo, Stuart H. Ralston, D. Merlotti +6 more
2015Journal of Bone and Mineral Research46 citations Open access
Semantic Scholar
The two faces of giant cell tumor of bone.
Federica Scotto di Carlo, M. Whyte, F. Gianfrancesco
2020Cancer Letters43 citations
Semantic Scholar
Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution.
F. Gianfrancesco, R. Sanges, Teresa Esposito, Sergio Tempesta +6 more
2001Genome Research41 citations Open access
Semantic Scholar
Early Alpine occupation backdates westward human migration in Late Glacial Europe
E. Bortolini, L. Pagani, Gregorio Oxilia, C. Posth +31 more
2020bioRxiv39 citations Open access
Semantic Scholar
Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations
F. Gianfrancesco, M. Cannella, T. Martino, V. Maglione +6 more
2007American Journal of Medical Genetics Part B: Neuropsychiatric Genetics39 citations
Semantic Scholar
A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease
F. Gianfrancesco, D. Rendina, M. D. Di Stefano, A. Mingione +16 more
2012Journal of Bone and Mineral Research38 citations
Semantic Scholar
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts
C. Liquori, S. Penco, J. Gault, T. Leedom +8 more
2008Neurogenetics38 citations
Semantic Scholar
The Osteoclast Traces the Route to Bone Tumors and Metastases
Sharon Russo, Federica Scotto di Carlo, F. Gianfrancesco
2022Frontiers in Cell and Developmental Biology37 citations Open access
Semantic Scholar
The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone
Federica Scotto di Carlo, L. Pazzaglia, T. Esposito, F. Gianfrancesco
2020Journal of Bone and Mineral Research33 citations Open access
Semantic Scholar
Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility
Francesca E. Fernandez, T. Esposito, R. Lea, N. Colson +3 more
2008BMC Medical Genetics33 citations Open access
Semantic Scholar
Autosomal‐dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation
F. Napolitano, V. Di Iorio, F. Testa, A. Tirozzi +9 more
2018Clinical Genetics30 citations
Semantic Scholar
Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function
A. Goode, J. Long, B. Shaw, S. Ralston +10 more
2014Biochimica et Biophysica Acta30 citations Open access
Semantic Scholar
Genetic Variants of Y Chromosome Are Associated With a Protective Lipid Profile in Black Men
P. Russo, A. Siani, Michelle A. Miller, S. Karanam +6 more
2008Arteriosclerosis, Thrombosis and Vascular Biology30 citations
Semantic Scholar
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.
F. Gianfrancesco, Teresa Esposito, S. Penco, V. Maglione +6 more
2008Neuroscience30 citations
Semantic Scholar
Comparison of intravenous and intramuscular neridronate regimens for the treatment of paget disease of bone
D. Merlotti, D. Rendina, L. Gennari, G. Mossetti +8 more
2011Journal of Bone and Mineral Research29 citations Open access
Semantic Scholar
Bone Turnover and the Osteoprotegerin–RANKL Pathway in Tumor-Induced Osteomalacia: A Longitudinal Study of Five Cases
D. Rendina, G. De Filippo, L. Tauchmanovà, L. Insabato +7 more
2009Calcified Tissue International29 citations
Semantic Scholar
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
T. Esposito, R. Lea, B. Maher, Dianne Moses +11 more
2013Human Molecular Genetics28 citations Open access
Semantic Scholar
Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density
N. Alonso, K. Estrada, O. Albagha, L. Herrera +57 more
2017Annals of the Rheumatic Diseases27 citations Open access
Semantic Scholar
A functional allelic variant of the FGF23 gene is associated with renal phosphate leak in calcium nephrolithiasis.
D. Rendina, T. Esposito, G. Mossetti, G. De Filippo +6 more
2012Journal of Clinical Endocrinology and Metabolism27 citations
Semantic Scholar
The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis.
T. Esposito, D. Rendina, A. Aloia, D. Formicola +6 more
2012Nephrology, Dialysis and Transplantation24 citations Open access
Semantic Scholar
Association of a GRIA3 Gene Polymorphism With Migraine in an Australian Case‐Control Cohort
B. Maher, R. Lea, J. Follett, Hannah Cox +5 more
2013Headache23 citations
Semantic Scholar
Giant cell tumor occurring in familial Paget's disease of bone: Report of clinical characteristics and linkage analysis of a large pedigree
F. Gianfrancesco, D. Rendina, D. Merlotti, T. Esposito +8 more
2013Journal of Bone and Mineral Research21 citations Open access
Semantic Scholar
Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone.
I. A. L. Silva, N. Conceição, Édith Gagnon, Helena Caiado +4 more
2018Biochimica et Biophysica Acta - Molecular Basis of Disease20 citations Open access
Semantic Scholar
ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone
G. Divisato, F. S. di Carlo, N. Petrillo, T. Esposito +1 more
2018Clinical Genetics20 citations
Semantic Scholar
The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences
Giuseppina Divisato, F. S. di Carlo, L. Pazzaglia, Riccardo Rizzo +5 more
2017OncoTarget19 citations Open access
Semantic Scholar
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship
S. Sampaolo, T. Esposito, O. Farina, D. Formicola +9 more
2013Orphanet Journal of Rare Diseases18 citations Open access
Semantic Scholar
DDX11L: a novel transcript family emerging from human subtelomeric regions
V. Costa, A. Casamassimi, R. Roberto, F. Gianfrancesco +5 more
2009BMC Genomics18 citations Open access
Semantic Scholar
A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene.
Esposito Teresa, F. Lonardo, A. Fiumara, C. Lombardi +5 more
2006Molecular Genetics and Metabolism17 citations
Semantic Scholar
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology
Federica Scotto di Carlo, L. Pazzaglia, S. Mumm, M. Benassi +7 more
2020Journal of Bone and Mineral Research16 citations Open access
Semantic Scholar
The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location
Federica Scotto di Carlo, Giuseppina Divisato, M. Iacoangeli, T. Esposito +1 more
2018BMC Cancer16 citations Open access
Semantic Scholar
Vitamin D Receptor Gene Polymorphisms Predict Acquired Resistance to Clodronate Treatment in Patients with Paget’s Disease of Bone
G. Mossetti, L. Gennari, D. Rendina, G. De Filippo +8 more
2008Calcified Tissue International16 citations
Semantic Scholar
Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers
D. Rendina, G. De Filippo, F. Gianfrancesco, R. Muscariello +3 more
2017JN. Journal of Nephrology (Milano. 1992)14 citations
Semantic Scholar
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.
S. Sampaolo, T. Esposito, F. Gianfrancesco, F. Napolitano +4 more
2015Neuromuscular Disorders14 citations
Semantic Scholar
Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN
G. De Filippo, D. Rendina, Vincenzo Rocco, T. Esposito +2 more
2013Italian Journal of Pediatrics14 citations Open access
Semantic Scholar
Epidemiological, clinical, and genetic characteristics of Paget’s disease of bone in a rural area of Calabria, Southern Italy
D. Rendina, F. Gianfrancesco, G. De Filippo, D. Merlotti +9 more
2010Journal of Endocrinological Investigation14 citations
Semantic Scholar
Profilin 1 deficiency drives mitotic defects and reduces genome stability
Federica Scotto di Carlo, Sharon Russo, F. Muyas, Maria Mangini +9 more
2023Communications Biology13 citations Open access
Semantic Scholar
Modulation of Endocannabinoid Tone in Osteoblastic Differentiation of MC3T3-E1 Cells and in Mouse Bone Tissue over Time
Magdalena Kostrzewa, Ali Mokhtar Mahmoud, R. Verde, Federica Scotto di Carlo +3 more
2021Cells12 citations Open access
Semantic Scholar
Characterization of the murine orthologue of a novel human subtelomeric multigene family
F. Gianfrancesco, Geppino Falco, Teresa Esposito, Mariano Rocchi +1 more
2001Cytogenetic and Genome Research12 citations
Semantic Scholar

Frequent co-authors

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T. Esposito×34
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T. Esposito — researcher profile on SciRah
D. Rendina×17
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D. Rendina — researcher profile on SciRah
P. Strazzullo×14
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P. Strazzullo — researcher profile on SciRah
G. De Filippo×13
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G. De Filippo — researcher profile on SciRah

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L. Gennari — researcher profile on SciRah

D. Merlotti×11

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D. Merlotti — researcher profile on SciRah

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R. Nuti — researcher profile on SciRah

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G. Mossetti — researcher profile on SciRah

D. Formicola×8

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D. Formicola — researcher profile on SciRah

Federica Scotto di Carlo×7

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Federica Scotto di Carlo — researcher profile on SciRah

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S. Sampaolo — researcher profile on SciRah

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G. Di Iorio — researcher profile on SciRah