Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

R. Ficarella · SciRah

Researcher profile · Semantic Scholar

R. Ficarella

Share profile

R. Ficarella — researcher profile on SciRah

h-index: 19
Works: 48
Citations: 1,507

Most-cited papers

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
Carmela Lanzara, A. Roetto, F. Daraio, Silvain Rivard +10 more
2004Blood199 citations
Semantic Scholar
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1
L. Bruce, Hannah C. Robinson, H. Guizouarn, F. Borgese +11 more
2005Nature Genetics173 citations
Semantic Scholar
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
Francesca Donaudy, R. Snoeckx, M. Pfister, H. Zenner +15 more
2004American Journal of Human Genetics155 citations Open access
Semantic Scholar
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness
R. Ficarella, F. di Leva, M. Bortolozzi, S. Ortolano +12 more
2007Proceedings of the National Academy of Sciences of the United States of America128 citations Open access
Semantic Scholar
Metabolic, hormonal, oxidative, and inflammatory factors in pediatric obesity-related liver disease.
C. Mandato, S. Lucariello, M. Licenziati, A. Franzese +7 more
2005Jornal de Pediatria86 citations
Semantic Scholar
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation
Francesca Donaudy, Li-Li Zheng, R. Ficarella, E. Ballana +5 more
2005Journal of Medical Genetics71 citations Open access
Semantic Scholar
Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family.
Sylvain R. Rivard, Carmela Lanzara, Doria Grimard, M. Carella +6 more
2003Haematologica70 citations
Semantic Scholar
Correction of intermittent hypoxia reduces inflammation in obese subjects with obstructive sleep apnea.
Sebastio Perrini, A. Cignarelli, V. Quaranta, V. A. Falcone +12 more
2017JCI Insight67 citations Open access
Semantic Scholar
Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report
A. Inchingolo, A. Patano, G. Coloccia, Sabino Ceci +17 more
2021Medicina61 citations Open access
Semantic Scholar
Differences in Gene Expression and Cytokine Release Profiles Highlight the Heterogeneity of Distinct Subsets of Adipose Tissue-Derived Stem Cells in the Subcutaneous and Visceral Adipose Tissue in Humans
Sebastio Perrini, R. Ficarella, E. Picardi, A. Cignarelli +10 more
2013PLoS ONE60 citations Open access
Semantic Scholar
Regulation of the biogenesis of OXPHOS complexes in cell transition from replicating to quiescent state: involvement of PKA and effect of hydroxytyrosol.
A. Signorile, Loris Micelli, D. De Rasmo, Arcangela Santeramo +5 more
2014Biochimica et Biophysica Acta44 citations Open access
Semantic Scholar
Human adipose tissue stem cells: relevance in the pathophysiology of obesity and metabolic diseases and therapeutic applications
A. Cignarelli, Sebastio Perrini, R. Ficarella, A. Peschechera +2 more
2012Expert Reviews in Molecular Medicine38 citations
Semantic Scholar
Are MYO1C and MYO1F associated with hearing loss?
Cristina Zadro, Maria Stella Alemanno, E. Bellacchio, R. Ficarella +9 more
2009Biochimica et Biophysica Acta36 citations Open access
Semantic Scholar
D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness.
G. P. Nicchia, R. Ficarella, A. Rossi, I. Giangreco +7 more
2011Neuroscience33 citations
Semantic Scholar
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population
Sylvain R. Rivard, Carmela Lanzara, Doria Grimard, M. Carella +11 more
2003European Journal of Human Genetics32 citations
Semantic Scholar
NANOG Plays a Hierarchical Role in the Transcription Network Regulating the Pluripotency and Plasticity of Adipose Tissue-Derived Stem Cells
M. Pitrone, G. Pizzolanti, L. Tomasello, A. Coppola +7 more
2017International Journal of Molecular Sciences30 citations Open access
Semantic Scholar
A second locus mapping to 2q35–36 for familial pseudohyperkalaemia
M. Carella, A. P. d'Adamo, S. Grootenboer-Mignot, M. Vantyghem +7 more
2004European Journal of Human Genetics29 citations
Semantic Scholar
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3
Giulia Cova, Julia D. Glaser, R. Schöpflin, C. Prada-Medina +13 more
2022bioRxiv23 citations Open access
Semantic Scholar
Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes.
Carmela Lanzara, R. Ficarella, A. Totaro, Xin Chen +6 more
2003Blood Cells, Molecules & Diseases22 citations
Semantic Scholar
The p66 Shc protein controls redox signaling and oxidation-dependent DNA damage in human liver cells
Sebastio Perrini, Federica Tortosa, A. Natalicchio, C. Pacelli +13 more
201518 citations
Semantic Scholar
Long-acting insulin analog detemir displays reduced effects on adipocyte differentiation of human subcutaneous and visceral adipose stem cells.
A. Cignarelli, Sebastio Perrini, P. Nigro, R. Ficarella +7 more
2016NMCD. Nutrition Metabolism and Cardiovascular Diseases17 citations
Semantic Scholar
Human adipose tissue precursor cells: a new factor linking regulation of fat mass to obesity and type 2 diabetes?
Sebastio Perrini, A. Cignarelli, R. Ficarella, L. Laviola +1 more
2009Archives of Physiology and Biochemistry15 citations
Semantic Scholar
Cardiac Phenotype and Gene Mutations in RASopathies
M. Faienza, G. Meliota, D. Mentino, R. Ficarella +3 more
2024Genes12 citations Open access
Semantic Scholar
14q13 distal microdeletion encompassing NKX2‐1 and PAX9: Patient report and refinement of the associated phenotype
M. Gentile, Delia De Mattia, A. Pansini, F. Schettini +4 more
2016American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
Lipodystrophic Diabetes Mellitus: a Lesson for Other Forms of Diabetes?
R. Ficarella, L. Laviola, F. Giorgino
2015Current Diabetes Reports11 citations
Semantic Scholar
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
F. Grati, I. Bestetti, Daria De Siero, F. Malvestiti +72 more
2022Prenatal Diagnosis10 citations Open access
Semantic Scholar
Cardiovascular, Brain, and Lung Involvement in a Newborn With a Novel FLNA Mutation
G. Meliota, U. Vairo, R. Ficarella, L. Milella +2 more
2021Advances in Neonatal Care10 citations
Semantic Scholar
Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health
L. Vimercati, D. Cavone, F. Fortarezza, M. Delfino +13 more
2022Frontiers in Oncology7 citations Open access
Semantic Scholar
Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low‐risk cell‐free DNA test for common trisomies
N. Persico, S. Boito, P. Volpe, B. Ischia +9 more
2020Prenatal Diagnosis7 citations Open access
Semantic Scholar
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model
M. L. Mignogna, R. Ficarella, Susanna Gelmini, Lucia Marzulli +7 more
2021Human Molecular Genetics6 citations Open access
Semantic Scholar
Interplay between metabolic, oxidative, inflammatory and hormonal factors in pediatric obesity related liver disease.
S. Lucariello, Mandato Claudia, R. Ficarella, M. Licenziati +6 more
20036 citations
Semantic Scholar
The p66Shc protein controls redox signaling and oxidation-dependent DNA damage in human liver cells.
Sebastio Perrini, Federica Tortosa, A. Natalicchio, C. Pacelli +13 more
2015American Journal of Physiology - Gastrointestinal and Liver Physiology5 citations Open access
Semantic Scholar
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling
M. Gentile, T. Fanelli, F. Lepri, A. Gentile +4 more
2021American Journal of Medical Genetics. Part A3 citations
Semantic Scholar
Novel exostosin‐2 missense variants in a family with autosomal recessive exostosin‐2‐related syndrome: further evidences on the phenotype
M. Gentile, E. Agolini, D. Cocciadiferro, R. Ficarella +4 more
2018Clinical Genetics3 citations Open access
Semantic Scholar
Horizontal Gaze Palsy with Progressive Scoliosis with Overlapping Epilepsy and Learning Difficulties: A Case Report
Emilia Matera, M. Petruzzelli, Martina Tarantini, Alessandra Gabellone +4 more
2022Brain Science2 citations Open access
Semantic Scholar
Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12
A. Cellamare, N. Coccaro, M. Nuzzi, Paola Casieri +10 more
2021Genes2 citations Open access
Semantic Scholar
Insulin Detemir Induced less Adipogenesis and less Lipid Droplets Accumulation than Human Insulin in Human Adipose Stem Cells
A. Cignarelli, M. Barbaro, P. Nigro, R. Ficarella +6 more
20112 citations
Semantic Scholar
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features
F. N. Riviello, Alessia Daponte, Emanuela Ponzi, R. Ficarella +6 more
2023Genes1 citations Open access
Semantic Scholar
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects
M. Gentile, C. Ranieri, D. Loconte, Emanuela Ponzi +11 more
2020Clinical Genetics1 citations
Semantic Scholar
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3
Giulia Cova, J. Glaser, R. Schöpflin, C. Prada-Medina +13 more
2023Nature Communications0 citations Open access
Semantic Scholar
Author response for "Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects"
M. Gentile, C. Ranieri, D. Loconte, Emanuela Ponzi +11 more
20200 citations Open access
Semantic Scholar
OP08.04: Pregnancy outcome for fetuses with increased nuchal translucency ≥ 3.5mm but normal karyotype and CMA
R. Ficarella, G. Rembouskos, G. Volpe, Mattia Gentile +2 more
20170 citations Open access
Semantic Scholar
Correction of Intermittent Hypoxia with CPAP Improves Cardiometabolic Abnormalities, and Systemic and Adipose Tissue Inflammation in Obese Subjects with Obstructive Sleep Apnea.
Sebastio Perrini, A. Ciavarella, S. Kounaki, A. Cignarelli +8 more
20140 citations
Semantic Scholar
hemochromatosis Spectrum of hemojuvelin gene mutations in 1q-linked juvenile
S. Volinia, P. Gasparini, T. Cox, M. Cazzola +6 more
20130 citations
Semantic Scholar
The p66Shc isoform mediates FFA-induced apoptosis in pancreatic beta-cells.
A. Natalicchio, Federica Tortosa, Rossella Labarbuta, Orlando +9 more
20120 citations
Semantic Scholar
Author ' s personal copy D 184 E MUTATION IN AQUAPORIN-4 GENE IMPAIRS WATER PERMEABILITY AND LINKS TO DEAFNESS
G. Nicchia, R. Ficarella, A. Rossi, I. Giangreco +2 more
20110 citations
Semantic Scholar
Adipose tissue precursor cells
M. Carreira, Sebastio Perrini, A. Cignarelli, R. Ficarella +2 more
20100 citations
Semantic Scholar
The p66 Shc Protein Controls Redox Signaling and Oxidation-Dependent DNA Damage in 4 Human Liver Cells. 5
Sebastio Perrini, Federica Tortosa, A. Natalicchio, C. Pacelli +12 more
0 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

Sebastio Perrini×13
Invite
Sebastio Perrini — researcher profile on SciRah
F. Giorgino×13
Invite
F. Giorgino — researcher profile on SciRah
A. Cignarelli×12
Invite
A. Cignarelli — researcher profile on SciRah
L. Laviola×12
Invite
L. Laviola — researcher profile on SciRah

×11

Invite

P. Gasparini — researcher profile on SciRah

Invite

M. Gentile — researcher profile on SciRah

A. Natalicchio×9

Invite

A. Natalicchio — researcher profile on SciRah

Emanuela Ponzi×9

Invite

Emanuela Ponzi — researcher profile on SciRah

Invite

M. Carella — researcher profile on SciRah

Invite

P. Nigro — researcher profile on SciRah

Invite

M. De Fazio — researcher profile on SciRah

Carmela Lanzara×4

Invite

Carmela Lanzara — researcher profile on SciRah