L Perroni

3.0k total citations · 1 hit paper
39 papers, 2.1k citations indexed

About

L Perroni is a scholar working on Genetics, Pediatrics, Perinatology and Child Health and Molecular Biology. According to data from OpenAlex, L Perroni has authored 39 papers receiving a total of 2.1k indexed citations (citations by other indexed papers that have themselves been cited), including 25 papers in Genetics, 13 papers in Pediatrics, Perinatology and Child Health and 11 papers in Molecular Biology. Recurrent topics in L Perroni's work include Genomic variations and chromosomal abnormalities (11 papers), Genetics and Neurodevelopmental Disorders (9 papers) and Neonatal Health and Biochemistry (7 papers). L Perroni is often cited by papers focused on Genomic variations and chromosomal abnormalities (11 papers), Genetics and Neurodevelopmental Disorders (9 papers) and Neonatal Health and Biochemistry (7 papers). L Perroni collaborates with scholars based in Italy, United States and Austria. L Perroni's co-authors include F. Dagna Bricarelli, Francesca Faravelli, Jane Peake, Mary E. Brunkow, Massimo Mazzella, Sean Proll, Geoffrey C Byrne, Jean‐Laurent Casanova, Olivier Goulet and Robert S. Wildin and has published in prestigious journals such as Proceedings of the National Academy of Sciences, Nucleic Acids Research and Nature Genetics.

In The Last Decade

L Perroni

37 papers receiving 2.1k 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.

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

2001 1.4k citations Robert S. Wildin, Fred Ramsdell et al. Nature Genetics profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
L Perroni Italy	17	1.4k	587	302	193	184	39	2.1k
Robert S. Wildin United States	19	2.1k 1.5×	794 1.4×	589 2.0×	107 0.6×	312 1.7×	31	3.0k
Ulrike Hüffmeier Germany	24	813 0.6×	586 1.0×	534 1.8×	221 1.1×	154 0.8×	45	1.8k
Luciana Rigoli Italy	23	362 0.3×	306 0.5×	491 1.6×	196 1.0×	155 0.8×	84	1.5k
Maureen M. Sanz United States	13	841 0.6×	728 1.2×	729 2.4×	56 0.3×	163 0.9×	18	1.9k
Glennda Smithson United States	21	839 0.6×	251 0.4×	480 1.6×	95 0.5×	292 1.6×	41	1.7k
James M. Gardner United States	17	1.3k 0.9×	346 0.6×	314 1.0×	132 0.7×	236 1.3×	45	1.9k
J. M. Heward United Kingdom	27	1.0k 0.7×	1.5k 2.6×	412 1.4×	132 0.7×	85 0.5×	39	2.6k
Susan Price United States	18	606 0.4×	559 1.0×	564 1.9×	53 0.3×	199 1.1×	44	1.4k
Auke P. Verhaar Netherlands	15	487 0.3×	388 0.7×	390 1.3×	127 0.7×	251 1.4×	29	1.6k
M. Lau United States	16	422 0.3×	311 0.5×	461 1.5×	136 0.7×	36 0.2×	40	1.3k

Countries citing papers authored by L Perroni

Since Specialization

Citations

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

Fields of papers citing papers by L Perroni

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of L Perroni

This figure shows the co-authorship network connecting the top 25 collaborators of L Perroni. A scholar is included among the top collaborators of L Perroni 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 L Perroni. L Perroni 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

Passerini, Laura, Sara Galimberti, Silvia Gregori, et al.. (2011). Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome. European Journal of Immunology. 41(4). 1120–1131. 62 indexed citations

Piccione, Maria, et al.. (2011). Deletion of NSD1 exon 14 in Sotos syndrome: first description. Journal of Genetics. 90(1). 119–123. 5 indexed citations

Malacarne, Michela, Francesca Forzano, Mauro Pierluigi, et al.. (2010). The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 153B(7). 1342–1346. 16 indexed citations

Cecconi, Maurizio, Francesca Forzano, Livia Garavelli, et al.. (2008). Recurrence of Mowat–Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. American Journal of Medical Genetics Part A. 146A(23). 3095–3099. 18 indexed citations

Benedetti, Fabrizio De, Antonella Insalaco, Antonella Diamanti, et al.. (2006). Mechanistic Associations of a Mild Phenotype of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome. Clinical Gastroenterology and Hepatology. 4(5). 653–659. 48 indexed citations

Bricarelli, F. Dagna, M. Pierluigi, Marina Grasso, Paolo Strigini, & L Perroni. (2005). Origin of extra chromosome 21 in 343 families: Cytogenetic and molecular approaches. American Journal of Medical Genetics. 37(S7). 129–132. 3 indexed citations

Bindl, L., Troy R. Torgerson, L Perroni, et al.. (2005). Successful Use of the New Immune-suppressor Sirolimus in IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome). The Journal of Pediatrics. 147(2). 256–259. 82 indexed citations

Perroni, L, F. Dagna Bricarelli, Marina Grasso, et al.. (2005). Crossing over and chromosome 21 nondisjunction: A study of 60 families. American Journal of Medical Genetics. 37(S7). 141–147.

Wildin, Robert S., Fred Ramsdell, Jane Peake, et al.. (2001). X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nature Genetics. 27(1). 18–20. 1422 indexed citations breakdown →

10.

Nigro, Cristiana Lo, Francesca Faravelli, Simona Cavani, et al.. (2000). FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother. European Journal of Human Genetics. 8(3). 157–162. 6 indexed citations

11.

Grasso, Marina, Francesca Faravelli, Cristiana Lo Nigro, et al.. (1999). Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in theFMR1 gene in eight fragile X patients. American Journal of Medical Genetics. 85(3). 311–316. 24 indexed citations

12.

Grasso, Marina, L Perroni, Stefano Colella, et al.. (1996). Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome. American Journal of Medical Genetics. 64(1). 187–190. 3 indexed citations

13.

Chiurazzi, Pietro, Maurizio Genuardi, Libor Kozák, et al.. (1996). Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity. American Journal of Medical Genetics. 64(1). 209–215. 36 indexed citations

14.

Grasso, Marina, L Perroni, Franca Dagna‐Bricarelli, et al.. (1996). Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe. American Journal of Medical Genetics. 64(2). 283–286. 1 indexed citations

15.

Perroni, L, Marina Grasso, Alessandra Argusti, et al.. (1996). Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: A study of 87 families. American Journal of Medical Genetics. 64(1). 176–180. 12 indexed citations

16.

Perroni, L, et al.. (1989). [Vaccination against hepatitis B: 3 years' experience at the Latium Operative Unit].. PubMed. 1(6). 1307–15. 1 indexed citations

17.

Grasso, Marina, et al.. (1989). Isochromosome not translocation in trisomy 21q21q. Human Genetics. 84(1). 63–65. 32 indexed citations

18.

Perroni, L, et al.. (1989). Expression of the human ETS-2 oncogene in normal fetal tissues and in the brain of a fetus with trisomy 21. Human Genetics. 83(3). 295–296. 14 indexed citations

19.

Bricarelli, F. Dagna, et al.. (1988). High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms. Human Genetics. 79(2). 124–127. 17 indexed citations

20.

Perroni, L, et al.. (1980). Comparative study of the effects of fructose-1,6-diphosphate, fructose and physiological saline on the blood levels of glucose and adenosine-triphosphate after an oral glucose load. Pharmacological Research Communications. 12(2). 147–153. 3 indexed citations

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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