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G. Santamaria · SciRah

Researcher profile · Semantic Scholar

G. Santamaria

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G. Santamaria — researcher profile on SciRah

h-index: 13
Works: 27
Citations: 886

Most-cited papers

Clinical Presentation and Pathogenesis of Cold-Induced Autoinflammatory Disease in a Family With Recurrence of an NLRP12 Mutation
S. Borghini, S. Tassi, S. Chiesa, F. Caroli +15 more
2011Arthritis & Rheumatism180 citations Open access
Semantic Scholar
Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications.
A. D'Osualdo, F. Ferlito, I. Prigione, L. Obici +15 more
2006Arthritis & Rheumatism147 citations Open access
Semantic Scholar
The physical map of the human RET proto-oncogene.
B. Pasini, R. Hofstra, L. Yin, R. Bocciardi +6 more
1995Oncogene104 citations
Semantic Scholar
Mutations in DSTYK and Dominant Urinary Tract Malformations
S. Sanna-Cherchi, R. Sampogna, N. Papeta, K. E. Burgess +44 more
2013New England Journal of Medicine102 citations Open access
Semantic Scholar
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome
Sara Parodi, T. Bachetti, F. Lantieri, M. Di Duca +5 more
2008Human Mutation64 citations Open access
Semantic Scholar
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome
T. Bachetti, Sara Parodi, M. Di Duca, G. Santamaria +2 more
2011Journal of molecular medicine37 citations
Semantic Scholar
Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene
I. Ceccherini, B. Pasini, F. Pacini, M. Gullo +9 more
1997Oncogene37 citations Open access
Semantic Scholar
Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization
D. Lasiglié, A. Mensa-Vilaró, Denise Ferrera, R. Caorsi +23 more
2017Journal of Rheumatology36 citations Open access
Semantic Scholar
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)
P. Griseri, Y. Vos, R. Giorda, S. Gimelli +6 more
2009European Journal of Human Genetics31 citations Open access
Semantic Scholar
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes
S. Borghini, M. Di Duca, G. Santamaria, M. Vargiolu +10 more
2007European Journal of Human Genetics22 citations
Semantic Scholar
Novel ACTG2 variants disclose allelic heterogeneity and bi‐allelic inheritance in pediatric chronic intestinal pseudo‐obstruction
I. Matera, D. Bordo, M. Di Duca, M. Lerone +10 more
2020Clinical Genetics18 citations
Semantic Scholar
Candidate Genes in Patients with Autoinflammatory Syndrome Resembling Tumor Necrosis Factor Receptor-associated Periodic Syndrome Without Mutations in the TNFRSF1A Gene
S. Borghini, M. Fiore, M. Di Duca, F. Caroli +9 more
2011Journal of Rheumatology16 citations Open access
Semantic Scholar
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients
A. Grossi, M. Miano, M. Lanciotti, F. Fioredda +10 more
2021Genes15 citations Open access
Semantic Scholar
The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling
T. Bachetti, Francesca Rosamilia, Martina Bartolucci, G. Santamaria +12 more
2021International Journal of Molecular Sciences13 citations Open access
Semantic Scholar
cDNA Sequence and Genomic Structure of the Rat Ret Proto-Oncogene
I. Matera, M. De Miguel-rodríguez, J. M. Fernández-Santos, G. Santamaria +5 more
2000DNA Sequence12 citations Open access
Semantic Scholar
Hirschsprung associated GDNF mutations do not prevent RET activation
S. Borghini, R. Bocciardi, G. Bonardi, I. Matera +3 more
2002European Journal of Human Genetics10 citations
Semantic Scholar
NOLA1 gene mutations in acquired aplastic anemia
S. Pigullo, E. Pavesi, I. Dianzani, G. Santamaria +9 more
2009Pediatric Blood & Cancer9 citations
Semantic Scholar
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
R. Papa, M. Rusmini, F. Schena, E. Traggiai +16 more
2021Clinical Immunology7 citations
Semantic Scholar
Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond?
A. Grossi, M. Rusmini, R. Cusano, M. Massidda +7 more
2023Frontiers in Genetics6 citations Open access
Semantic Scholar
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation
F. Lantieri, M. Malacarne, S. Gimelli, G. Santamaria +2 more
2017International Journal of Molecular Sciences6 citations Open access
Semantic Scholar
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease
F. Lantieri, S. Gimelli, C. Viaggi, E. Stathaki +8 more
2019Orphanet Journal of Rare Diseases5 citations Open access
Semantic Scholar
Patient's dermal fibroblasts as disease markers for visceral myopathy.
F. Viti, F. M. Pramotton, Michela Martufi, R. Magrassi +16 more
2023Biomaterials Advances3 citations Open access
Semantic Scholar
LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome
Serena Cappato, M. T. Divizia, L. Menta, Giulia Rosti +8 more
2025npj Genomic Medicine2 citations Open access
Semantic Scholar
The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome
T. Bachetti, Simona Bagnasco, G. Santamaria, M. Bedeschi +6 more
2025Frontiers in Physiology1 citations Open access
Semantic Scholar
Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene.
Ana Lucia Cuadros Gamboa, Filippo Chiesa, Paride Pelucchi, Martina Bertocchi +14 more
2025Stem Cell Research1 citations Open access
Semantic Scholar
PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHS
C. Africano, Tiziana Bachetti, E. Di Zanni, G. Santamaria +5 more
2026Molecular Medicine0 citations Open access
Semantic Scholar
[In vitro evaluation of Fusarium oxysporum f.sp lycopersicy and F. oxysporum f.sp. radicis-lycopersici sensitivity to thiophanate-methyl and molecular characterization]
A. Moret, G. Santamaria, M. Nadal
20050 citations
Semantic Scholar

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