Giuseppe Santamaria

942 total citations
24 papers, 598 citations indexed

About

Giuseppe Santamaria is a scholar working on Genetics, Surgery and Molecular Biology. According to data from OpenAlex, Giuseppe Santamaria has authored 24 papers receiving a total of 598 indexed citations (citations by other indexed papers that have themselves been cited), including 12 papers in Genetics, 8 papers in Surgery and 7 papers in Molecular Biology. Recurrent topics in Giuseppe Santamaria's work include Digestive system and related health (7 papers), Congenital gastrointestinal and neural anomalies (6 papers) and Inflammasome and immune disorders (3 papers). Giuseppe Santamaria is often cited by papers focused on Digestive system and related health (7 papers), Congenital gastrointestinal and neural anomalies (6 papers) and Inflammasome and immune disorders (3 papers). Giuseppe Santamaria collaborates with scholars based in Italy, Switzerland and Spain. Giuseppe Santamaria's co-authors include Isabella Ceccherini, Marco Di Duca, Roberto Ravazzolo, Marco Gattorno, Alberto Martini, Andrea D’Osualdo, Tiziana Bachetti, Ivana Matera, Silvia Borghini and Sara Parodi and has published in prestigious journals such as Oncogene, International Journal of Molecular Sciences and Human Mutation.

In The Last Decade

Giuseppe Santamaria

24 papers receiving 583 citations

Peers

Countries citing papers authored by Giuseppe Santamaria

Since Specialization

Citations

This map shows the geographic impact of Giuseppe Santamaria's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Giuseppe Santamaria with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Giuseppe Santamaria more than expected).

Fields of papers citing papers by Giuseppe Santamaria

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Giuseppe Santamaria. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Giuseppe Santamaria. The network helps show where Giuseppe Santamaria may publish in the future.

Co-authorship network of co-authors of Giuseppe Santamaria

This figure shows the co-authorship network connecting the top 25 collaborators of Giuseppe Santamaria. A scholar is included among the top collaborators of Giuseppe Santamaria based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Giuseppe Santamaria. Giuseppe Santamaria is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome 2025 ·npj Genomic Medicine ·(unknown), Maria Teresa Divizia, (unknown), (unknown), Aldamaria Puliti, (unknown), Giuseppe Santamaria, Marco Di Duca, Patrizia Ronchetto, Francesca Faravelli, Federico Zara, Renata Bocciardi	1
2	Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond? 2023 ·Frontiers in Genetics ·Alice Grossi, Marta Rusmini, Roberto Cusano, (unknown), Giuseppe Santamaria, Flavia Napoli, (unknown), (unknown), Paolo Uva, Isabella Ceccherini, Mohamad Maghnie	4
3	Patient's dermal fibroblasts as disease markers for visceral myopathy 2023 ·Biomaterials Advances ·Federica Viti, (unknown), (unknown), Raffaella Magrassi, Nicoletta Pedemonte, Mario Nizzari, Francesca Cella Zanacchi, (unknown), (unknown), (unknown), Giuseppe Santamaria, Adriana Bajetto, (unknown), Valeria Tomati, Paolo Gandullia, Costanza Giampietro, Tullio Florio, Francesco Beltrame, Massimo Vassalli, Isabella Ceccherini	1
4	Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients 2021 ·Genes ·Alice Grossi, Maurizio Miano, Marina Lanciotti, Francesca Fioredda, (unknown), Elena Palmisani, Paola Terranova, Giuseppe Santamaria, Francesco Caroli, Roberta Caorsi, Stefano Volpi, Marco Gattorno, Carlo Dufour, Isabella Ceccherini	7
5	Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD) 2021 ·Clinical Immunology ·Riccardo Papa, Marta Rusmini, Francesca Schena, Elisabetta Traggiai, (unknown), Roberta Caorsi, Serena Arrigo, (unknown), Sara Signa, Patrizia Barone, Giuseppe Santamaria, (unknown), Remo Sanges, Diego Vozzi, Andrea Cavalli, Stefano Gustincich, Angelo Ravelli, Marco Gattorno, Isabella Ceccherini, Stefano Volpi	6
6	The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling 2021 ·International Journal of Molecular Sciences ·Tiziana Bachetti, (unknown), Martina Bartolucci, Giuseppe Santamaria, Manuela Mosconi, (unknown), Maria Rosaria De Filippo, Marco Di Duca, Valentina Obino, Stefano Avanzini, Domenico Mavilio, Simona Candiani, Andrea Petretto, Alessio Pini Prato, Isabella Ceccherini, Francesca Lantieri	7
7	Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease 2019 ·Orphanet Journal of Rare Diseases ·Francesca Lantieri, Stefania Gimelli, (unknown), (unknown), Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan‐Béna, Alessio Pini Prato, Domenico Coviello, Isabella Ceccherini	4
8	Candidate Genes in Patients with Autoinflammatory Syndrome Resembling Tumor Necrosis Factor Receptor-associated Periodic Syndrome Without Mutations in the TNFRSF1A Gene 2011 ·The Journal of Rheumatology ·Silvia Borghini, Michele Fiore, Marco Di Duca, Francesco Caroli, Martina Finetti, Giuseppe Santamaria, Francesca Ferlito, (unknown), Paolo Picco, Laura Obici, Alberto Martini, Marco Gattorno, Isabella Ceccherini	13
9	Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome 2011 ·Journal of Molecular Medicine ·Tiziana Bachetti, Sara Parodi, Marco Di Duca, Giuseppe Santamaria, Roberto Ravazzolo, Isabella Ceccherini	30
10	Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation 2010 ·Arthritis & Rheumatism ·Silvia Borghini, Sara Tassi, Sabrina Chiesa, Francesco Caroli, Sonia Carta, Roberta Caorsi, Michele Fiore, Laura Delfino, Denise Lasigliè, (unknown), Elisabetta Traggiai, Marco Di Duca, Giuseppe Santamaria, Andrea D’Osualdo, Maria Angela Tosca, Alberto Martini, Isabella Ceccherini, Anna Rubartelli, Marco Gattorno	141
11	Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11) 2008 ·European Journal of Human Genetics ·Paola Griseri, Yvonne J. Vos, Roberto Giorda, Stefania Gimelli, Silvana Beri, Giuseppe Santamaria, (unknown), Robert M.W. Hofstra, Giorgio Gimelli, Isabella Ceccherini	23
12	Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes 2007 ·European Journal of Human Genetics ·Silvia Borghini, Marco Di Duca, Giuseppe Santamaria, Manuela Vargiolu, Tiziana Bachetti, Francesca Cargnin, Alessio Pini Prato, Roberto De Giorgio, Margherita Lerone, Vincenzo Stanghellini, Vincenzo Jasonni, Diego Fornasari, Roberto Ravazzolo, Isabella Ceccherini	14
13	Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome 2007 ·Human Mutation ·Sara Parodi, Tiziana Bachetti, Francesca Lantieri, Marco Di Duca, Giuseppe Santamaria, G. Ottonello, Ivana Matera, Roberto Ravazzolo, Isabella Ceccherini	48
14	Mutational screening of theCYP26A1gene in patients with caudal regression syndrome 2006 ·Birth Defects Research Part A Clinical and Molecular Teratology ·Patrizia De Marco, Elisa Merello, Samantha Mascelli, Alessandro Raso, Giuseppe Santamaria, (unknown), Maria Grazia Calevo, Armando Cama, Valeria Capra	15
15	Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications 2006 ·Arthritis & Rheumatism ·Andrea D’Osualdo, Francesca Ferlito, Ignazia Prigione, Laura Obici, Jordi Antón, Francesco Zulian, Alessandra Pontillo, Fabrizia Corona, R Barcellona, Marco Di Duca, Giuseppe Santamaria, Francesco Traverso, Paolo Picco, Maurizia Baldi, Alessandro Plebani, Roberto Ravazzolo, Isabella Ceccherini, Alberto Martini, Marco Gattorno	111
16	[Surgical treatment of extracranial carotid aneurysms]. 2002 ·PubMed ·(unknown), (unknown), (unknown), (unknown), Vittorio Alberti, (unknown), (unknown), Giuseppe Santamaria	3
17	Hirschsprung associated GDNF mutations do not prevent RET activation 2002 ·European Journal of Human Genetics ·Silvia Borghini, Renata Bocciardi, (unknown), Ivana Matera, Giuseppe Santamaria, Roberto Ravazzolo, Isabella Ceccherini	8
18	cDNA Sequence and Genomic Structure of the Rat Ret Proto-Oncogene 2000 ·DNA sequence ·Ivana Matera, Manuel de Miguel, José M. Fernández‐Santos, Giuseppe Santamaria, Aldamaria Puliti, Roberto Ravazzolo, Giovanni Romeo, H Galera-Davidson, Isabella Ceccherini	9
19	Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene 1997 ·Oncogene ·Isabella Ceccherini, Barbara Pasini, Furio Pacini, Maria Gullo, Italia Bongarzone, Cristina Romei, Giuseppe Santamaria, Ivana Matera, Piera Mondellini, Lucio Scopsi, A Pinchera, Marco A. Pierotti, Giovanni Romeo	29
20	The physical map of the human RET proto-oncogene. 1995 ·PubMed ·Barbara Pasini, Robert M.W. Hofstra, Ling Yin, Renata Bocciardi, Giuseppe Santamaria, P.M. Grootscholten, Isabella Ceccherini, (unknown), Manuela Priolo, C.H.C.M. Buys	76

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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