Stefano Regis

2.5k total citations · 1 hit paper
57 papers, 1.9k citations indexed

About

Stefano Regis is a scholar working on Molecular Biology, Physiology and Cell Biology. According to data from OpenAlex, Stefano Regis has authored 57 papers receiving a total of 1.9k indexed citations (citations by other indexed papers that have themselves been cited), including 35 papers in Molecular Biology, 29 papers in Physiology and 12 papers in Cell Biology. Recurrent topics in Stefano Regis's work include Lysosomal Storage Disorders Research (29 papers), Biochemical and Molecular Research (11 papers) and Carbohydrate Chemistry and Synthesis (10 papers). Stefano Regis is often cited by papers focused on Lysosomal Storage Disorders Research (29 papers), Biochemical and Molecular Research (11 papers) and Carbohydrate Chemistry and Synthesis (10 papers). Stefano Regis collaborates with scholars based in Italy, United Kingdom and United States. Stefano Regis's co-authors include Mirella Filocamo, Mita Mancini, Daniela Toniolo, Elena Maestrini, Giovanni Romeo, Silvia Bione, Stefano Rivella, Fabio Corsolini, Marina Stroppiano and Cristina Bottino and has published in prestigious journals such as Nature Genetics, SHILAP Revista de lepidopterología and The Journal of Immunology.

In The Last Decade

Stefano Regis

56 papers receiving 1.9k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

1994 686 citations Stefano Regis et al. profile →

Peers

Countries citing papers authored by Stefano Regis

Since Specialization

Citations

This map shows the geographic impact of Stefano Regis'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 Stefano Regis with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Stefano Regis more than expected).

Fields of papers citing papers by Stefano Regis

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Stefano Regis. 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 Stefano Regis. The network helps show where Stefano Regis may publish in the future.

Co-authorship network of co-authors of Stefano Regis

This figure shows the co-authorship network connecting the top 25 collaborators of Stefano Regis. A scholar is included among the top collaborators of Stefano Regis 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 Stefano Regis. Stefano Regis 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	Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia 2023 ·Antioxidants ·(unknown), Stefano Regis, Silvia Bruno, Andrea Nicola Mazzarello, Martina Serra, Michela Lupia, Federica Sabatini, Fabio Corsolini, Silvia Ravera, Enrico Cappelli	6
2	Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for FANCA-A Gene: The Central Role of DRP1 2023 ·International Journal of Molecular Sciences ·(unknown), Silvia Bruno, Cristina Capanni, Marta Columbaro, Andrea Nicola Mazzarello, Fabio Corsolini, Stefano Regis, Paolo Degan, Enrico Cappelli, Silvia Ravera	3
3	Cell-Laden Hydrogel as a Clinical-Relevant 3D Model for Analyzing Neuroblastoma Growth, Immunophenotype, and Susceptibility to Therapies 2019 ·Frontiers in Immunology ·Alessandra Marrella, Alessandra Dondero, Maurizio Aiello, Beatrice Casu, Daniel Olive, Stefano Regis, Cristina Bottino, Daniela Pende, Raffaella Meazza, Guido Caluori, Roberta Castriconi, Silvia Scaglione	40
4	Critical issues for the proper diagnosis of Metachromatic Leukodystrophy 2013 ·Gene ·Laura Lorioli, Martina Cesani, Stefano Regis, Francesco Morena, Serena Grossi, Francesca Fumagalli, Serena Acquati, Daniela Redaelli, Antonella Pini, Maria Sessa, Sabata Martino, Mirella Filocamo, Alessandra Biffi	16
5	Restoration of the Normal Splicing Pattern of the PLP1 Gene by Means of an Antisense Oligonucleotide Directed against an Exonic Mutation 2013 ·PLoS ONE ·Stefano Regis, Fabio Corsolini, Serena Grossi, Barbara Tappino, D.N. Cooper, Mirella Filocamo	12
6	Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations 2011 ·Orphanet Journal of Rare Diseases ·Serena Grossi, Stefano Regis, Roberta Biancheri, Matthew Mort, Susanna Lualdi, Enrico Bertini, Graziella Uziel, Odile Boespflug‐Tanguy, Alessandro Simonati, Fabio Corsolini, Ercan Demir, Valentina Marchiani, Antonio Percesepe, Franco Stanzial, Andrea Rossi, Catherine Vaurs‐Barrière, D.N. Cooper, Mirella Filocamo	32
7	Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease 2010 ·Human Mutation ·Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, D.N. Cooper, Mirella Filocamo	90
8	PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus–Merzbacher disease patients 2009 ·Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ·Stefano Regis, Serena Grossi, Fabio Corsolini, Roberta Biancheri, Mirella Filocamo	23
9	Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with PLP1 gene duplications 2008 ·Clinical Genetics ·Stefano Regis, Roberta Biancheri, Enrico Bertini, Alberto Burlina, Susanna Lualdi, (unknown), (unknown), Andrea Rossi, Graziella Uziel, Mirella Filocamo	18
10	Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts 2006 ·Journal of Molecular Medicine ·Susanna Lualdi, María Gabriela Pittis, Stefano Regis, Rossella Parini, Anna Elsa Maria Allegri, Francesca Furlan, Bruno Bembi, Mirella Filocamo	20
11	Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene 2005 ·Biochemical and Biophysical Research Communications ·Monica Traverso, Mauro Malnati, Carlo Minetti, Stefano Regis, Silvana Tedeschi, Marina Pedemonte, Claudio Bruno, Roberto Biassoni, Federico Zara	31
12	Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries 2005 ·Molecular Genetics and Metabolism ·Agnieszka Ługowska, Olga Amaral, Johannes Berger, Linda Berná, N. U. Bosshard, Amparo Chabás, Anthony H. Fensom, Volkmar Gieselmann, (unknown), Willy Lissens, Jan‐Eric Månsson, Ana Marcão, Helen Michelakakis, H. Bernheimer, (unknown), Stefano Regis, Richard J. Sinke, Anna Tylki‐Szymańska, Barbara Czartoryska	23
13	Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, inSMPD1 2004 ·Human Mutation ·(unknown), Marina Stroppiano, Fabio Corsolini, Maja Di Rocco, Giancarlo Parenti, Stefano Regis, Serena Grossi, Roberta Biancheri, (unknown), Mirella Filocamo	25
14	Expression studies of two novel in CIS‐mutations identified in an intermediate case of Hunter syndrome 2003 ·American Journal of Medical Genetics Part A ·(unknown), Mirella Filocamo, Stefano Regis, Fabio Corsolini, Marina Stroppiano, Marco Di Duca, Rosanna Gatti	13
15	An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient 2003 ·European Journal of Human Genetics ·Stefano Regis, Fabio Corsolini, (unknown), Marco Di Duca, Mirella Filocamo	9
16	An Alu-mediated rearrangement as cause of exon skipping in Hunter disease 2003 ·Human Genetics ·(unknown), Stefano Regis, Marco Di Duca, Mirella Filocamo	28
17	Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients 2002 ·Human Mutation ·Mirella Filocamo, (unknown), Marina Stroppiano, Marco Seri, Fiorina Giona, Giancarlo Parenti, Stefano Regis, Fabio Corsolini, Stefania Zoboli, Rosanna Gatti	50
18	The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II 2001 ·Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ·Gloria Bonuccelli, Paola Di Natale, Fabio Corsolini, G. Villani, Stefano Regis, Mirella Filocamo	16
19	Prenatal diagnosis of Pelizaeus‐Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR 2001 ·Prenatal Diagnosis ·Stefano Regis, Mirella Filocamo, (unknown), Roberto Cusano, Fabio Corsolini, Gloria Bonuccelli, Marina Stroppiano, Rosanna Gatti	13
20	An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient 1995 ·Human Genetics ·Stefano Regis, (unknown), Mirella Filocamo, (unknown), C Mastropaolo, Rosanna Gatti	11

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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