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R. Cusano · SciRah

Researcher profile · Semantic Scholar

R. Cusano

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R. Cusano — researcher profile on SciRah

h-index: 33
Works: 88
Citations: 4,313

Most-cited papers

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
M. Seri, R. Cusano, S. Gangarossa, G. Caridi +21 more
2000Nature Genetics400 citations
Semantic Scholar
Genetic Variants Regulating Immune Cell Levels in Health and Disease
V. Orrù, M. Steri, G. Sole, C. Sidore +48 more
2013Cell358 citations Open access
Semantic Scholar
Overexpression of the Cytokine BAFF and Autoimmunity Risk
M. Steri, V. Orrù, M. Idda, M. Pitzalis +76 more
2017New England Journal of Medicine334 citations Open access
Semantic Scholar
MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness
M. Seri, A. Pecci, F. di Bari, R. Cusano +21 more
2003Medicine334 citations Open access
Semantic Scholar
Gut microbiota markers associated with obesity and overweight in Italian adults
Vanessa Palmas, S. Pisanu, Veronica Madau, Emanuela Casula +7 more
2021Scientific Reports318 citations Open access
Semantic Scholar
Gut Microbiota and Metabolome Alterations Associated with Parkinson’s Disease
Sarah Vascellari, Vanessa Palmas, M. Melis, S. Pisanu +13 more
2020mSystems243 citations Open access
Semantic Scholar
Identification of a SUFU germline mutation in a family with Gorlin syndrome
L. Pastorino, P. Ghiorzo, S. Nasti, L. Battistuzzi +5 more
2009American Journal of Medical Genetics. Part A185 citations
Semantic Scholar
Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny
P. Francalacci, L. Morelli, A. Angius, R. Berutti +35 more
2013Science161 citations Open access
Semantic Scholar
Preserved speech variant is allelic of classic Rett syndrome
Cristina De Bona, M. Zappella, G. Hayek, I. Meloni +6 more
2000European Journal of Human Genetics118 citations Open access
Semantic Scholar
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.
M. Seri, R. Cusano, Paola Forabosco, R. Cinti +11 more
1999American Journal of Human Genetics105 citations Open access
Semantic Scholar
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.
C. Wallgren-Pettersson, K. Pelin, P. Hilpelä, K. Donner +18 more
1999Neuromuscular Disorders97 citations
Semantic Scholar
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree
C. Marconi, P. B. Binello, G. Badiali, E. Caci +10 more
2012European Journal of Human Genetics65 citations Open access
Semantic Scholar
Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome.
F. de Benedetti, A. Insalaco, A. Diamanti, E. Cortis +10 more
2006Clinical Gastroenterology and Hepatology63 citations Open access
Semantic Scholar
Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients
L. Pastorino, R. Cusano, S. Nasti, F. Faravelli +9 more
2005Human Mutation63 citations Open access
Semantic Scholar
KIR and their HLA Class I ligands: Two more pieces towards completing the puzzle of chronic rejection and graft loss in kidney transplantation
R. Littera, G. Piredda, Davide Argiolas, S. Lai +20 more
2017PLoS ONE62 citations Open access
Semantic Scholar
Nuclear run-on assay using biotin labeling, magnetic bead capture and analysis by fluorescence-based RT-PCR.
G. Patrone, F. Puppo, R. Cusano, M. Scaranari +3 more
2000BioTechniques60 citations Open access
Semantic Scholar
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene
M. Seri, M. Savino, D. Bordo, R. Cusano +12 more
2002Human Genetics58 citations
Semantic Scholar
Impact of a Moderately Hypocaloric Mediterranean Diet on the Gut Microbiota Composition of Italian Obese Patients
S. Pisanu, Vanessa Palmas, Veronica Madau, Emanuela Casula +8 more
2020Nutrients54 citations Open access
Semantic Scholar
Gut Microbiota Markers and Dietary Habits Associated with Extreme Longevity in Healthy Sardinian Centenarians
Vanessa Palmas, S. Pisanu, Veronica Madau, Emanuela Casula +6 more
2022Nutrients52 citations Open access
Semantic Scholar
Novel MC1R variants in Ligurian melanoma patients and controls
L. Pastorino, R. Cusano, W. Bruno, F. Lantieri +6 more
2004Human Mutation52 citations Open access
Semantic Scholar
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
E. Panza, Juan M Escamilla-Honrubia, C. Marco-Marín, Nadine Gougeard +15 more
2016Brain : a journal of neurology51 citations Open access
Semantic Scholar
Gene dosage of the spermidine/spermine N1-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)
G. Gimelli, S. Giglio, O. Zuffardi, L. Alhonen +6 more
2002Human Genetics49 citations
Semantic Scholar
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate‐2‐sulfatase (IDS) gene
M. Filocamo, G. Bonuccelli, F. Corsolini, R. Mazzotti +2 more
2001Human Mutation48 citations
Semantic Scholar
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.
P. Ghiorzo, S. Gargiulo, L. Pastorino, S. Nasti +11 more
2006Human Molecular Genetics47 citations
Semantic Scholar
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11
I. Meloni, P. Rubegni, G. de Aloe, M. Bruttini +9 more
2001Human Mutation47 citations Open access
Semantic Scholar
INK4/ARF germline alterations in pancreatic cancer patients.
P. Ghiorzo, L. Pastorino, L. Bonelli, R. Cusano +6 more
2004Annals of Oncology46 citations
Semantic Scholar
Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome
S. Gargiulo, M. Torrini, Saara Ollila, S. Nasti +13 more
2009Familial Cancer45 citations
Semantic Scholar
Clinical Phenotypes of Parkinson’s Disease Associate with Distinct Gut Microbiota and Metabolome Enterotypes
Sarah Vascellari, M. Melis, Vanessa Palmas, S. Pisanu +10 more
2021Biomolecules42 citations Open access
Semantic Scholar
Population and individual-specific regulatory variation in Sardinia
M. Pala, Z. Zappala, M. Marongiu, X. Li +29 more
2017Nature Genetics41 citations Open access
Semantic Scholar
Genetic variants of TAS2R38 bitter taste receptor associate with distinct gut microbiota traits in Parkinson's disease: A pilot study.
Sarah Vascellari, M. Melis, G. Cossu, M. Melis +9 more
2020International Journal of Biological Macromolecules38 citations
Semantic Scholar
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability
M. Marini, R. Cusano, P. de Biasio, F. Caroli +5 more
2003American Journal of Medical Genetics. Part A35 citations
Semantic Scholar
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
S. Regis, F. Corsolini, M. Stroppiano, R. Cusano +1 more
2002Human Genetics35 citations
Semantic Scholar
Gut microbiota and metabolome distinctive features in Parkinson disease: Focus on levodopa and levodopa‐carbidopa intrajejunal gel
M. Melis, Sarah Vascellari, M. L. Santoru, V. Oppo +19 more
2020European Journal of Neurology34 citations Open access
Semantic Scholar
Weak linkage at 4p16 to predisposition for human neuroblastoma
P. Perri, Luca Longo, R. Cusano, C. Mcconville +7 more
2002Oncogene33 citations
Semantic Scholar
Evaluation of the HOX11L1 gene as a candidate for congenital disorders of intestinal innervation
Marcella Costa, M. Fava, M. Seri, R. Cusano +6 more
2000Journal of Medical Genetics33 citations Open access
Semantic Scholar
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.
F. Reinier, M. Zoledziewska, D. Hanna, Joshua D. Smith +15 more
2015Metabolism: Clinical and Experimental32 citations
Semantic Scholar
Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.
M. Seri, S. Melchionda, S. Dreyer, M. Marini +10 more
1999International Journal of Molecular Medicine32 citations
Semantic Scholar
Expanded circulating hematopoietic stem/ progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis
Valentina Capo, S. Penna, I. Merelli, M. Barcella +26 more
2020Haematologica31 citations Open access
Semantic Scholar
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment
Marco Seri, G. Martucciello, L. Paleari, A. Bolino +12 more
1999Human Genetics26 citations
Semantic Scholar
HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders.
M. Fava, S. Borghini, R. Cinti, R. Cusano +7 more
2002International Journal of Molecular Medicine24 citations
Semantic Scholar
A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2
C. L. Nigro, R. Cusano, M. Scaranari, R. Cinti +9 more
2000European Journal of Human Genetics24 citations Open access
Semantic Scholar
The first intron of the human osteopontin gene contains a C/EBP-beta-responsive enhancer.
Francesca Giacopelli, N. Rosatto, M. T. Divizia, R. Cusano +2 more
2003Gene Expression23 citations Open access
Semantic Scholar
Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.
M. Marini, E. Bongers, R. Cusano, M. Di Duca +3 more
2003International Journal of Molecular Medicine22 citations
Semantic Scholar
Molecular characterization of an Italian series of sporadic GISTs
P. Origone, S. Gargiulo, L. Mastracci, A. Ballestrero +12 more
2013Gastric Cancer21 citations Open access
Semantic Scholar
MICA gene polymorphisms in an Italian paediatric series of juvenile Behçet disease.
P. Picco, B. Porfirio, M. Gattorno, A. Buoncompagni +6 more
2002International Journal of Molecular Medicine21 citations
Semantic Scholar
Next Generation Sequencing for miRNA Detection on the Exhaled Breath Condensate: A Pilot Study
R. Cherchi, R. Cusano, S. Orrù, P. Ferrari +4 more
2023Epigenetics Insights20 citations Open access
Semantic Scholar
Linkage Analysis in Families with Recurrent Neuroblastoma
P. Perri, Luca Longo, C. Mcconville, R. Cusano +6 more
2002Annals of the New York Academy of Sciences19 citations
Semantic Scholar
Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo‐obstruction
R. De Giorgio, M. Seri, R. Cogliandro, R. Cusano +9 more
2001Clinical Genetics18 citations
Semantic Scholar
Prenatal diagnosis of Pelizaeus‐Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR
S. Regis, M. Filocamo, R. Mazzotti, R. Cusano +4 more
2001Prenatal Diagnosis17 citations
Semantic Scholar
HLA-G molecules and clinical outcome in Chronic Myeloid Leukemia.
G. Caocci, M. Greco, M. Arras, R. Cusano +10 more
2017Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis15 citations Open access
Semantic Scholar

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