Irene Bottillo

1.7k total citations
65 papers, 1.1k citations indexed

About

Irene Bottillo is a scholar working on Molecular Biology, Genetics and Pulmonary and Respiratory Medicine. According to data from OpenAlex, Irene Bottillo has authored 65 papers receiving a total of 1.1k indexed citations (citations by other indexed papers that have themselves been cited), including 35 papers in Molecular Biology, 20 papers in Genetics and 14 papers in Pulmonary and Respiratory Medicine. Recurrent topics in Irene Bottillo's work include Neurofibromatosis and Schwannoma Cases (9 papers), Congenital heart defects research (8 papers) and Genomic variations and chromosomal abnormalities (8 papers). Irene Bottillo is often cited by papers focused on Neurofibromatosis and Schwannoma Cases (9 papers), Congenital heart defects research (8 papers) and Genomic variations and chromosomal abnormalities (8 papers). Irene Bottillo collaborates with scholars based in Italy, Lebanon and China. Irene Bottillo's co-authors include Bruno Dallapiccola, Laura Bernardini, Antonio Novelli, Alessandro De Luca, Paola Grammatico, Terje Ahlquist, Annalisa Schirinzi, Stine A. Danielsen, Ragnhild A. Lothe and Isabella Torrente and has published in prestigious journals such as Scientific Reports, International Journal of Molecular Sciences and The American Journal of Human Genetics.

In The Last Decade

Irene Bottillo

59 papers receiving 1.1k citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Irene Bottillo Italy 18 531 257 253 179 157 65 1.1k
Veena Rajaram United States 21 784 1.5× 240 0.9× 157 0.6× 314 1.8× 133 0.8× 60 1.6k
Anita Leys Belgium 26 600 1.1× 148 0.6× 274 1.1× 131 0.7× 102 0.6× 115 2.0k
Raimund Fahsold Germany 14 344 0.6× 397 1.5× 159 0.6× 130 0.7× 84 0.5× 27 777
Monika Goś Poland 19 769 1.4× 88 0.3× 331 1.3× 74 0.4× 66 0.4× 49 1.2k
Huiming Xu China 20 589 1.1× 263 1.0× 86 0.3× 86 0.5× 88 0.6× 56 1.1k
Víctor Martínez‐Glez Spain 22 603 1.1× 161 0.6× 813 3.2× 87 0.5× 76 0.5× 61 1.4k
Angela Di Vinci Italy 19 452 0.9× 152 0.6× 105 0.4× 72 0.4× 253 1.6× 42 922
Yue‐Bei Luo China 18 403 0.8× 162 0.6× 60 0.2× 75 0.4× 83 0.5× 52 906
Alexa Kidd New Zealand 14 663 1.2× 127 0.5× 327 1.3× 68 0.4× 122 0.8× 24 1.1k
Tomonaga Matsushita Japan 12 270 0.5× 145 0.6× 212 0.8× 57 0.3× 77 0.5× 20 732

Countries citing papers authored by Irene Bottillo

Since Specialization
Citations

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

Fields of papers citing papers by Irene Bottillo

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Irene Bottillo

This figure shows the co-authorship network connecting the top 25 collaborators of Irene Bottillo. A scholar is included among the top collaborators of Irene Bottillo 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 Irene Bottillo. Irene Bottillo is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Bottillo, Irene, Alessandro Sciarra, Giulio Bevilacqua, et al.. (2025). Early Detection of the Pathogenetic Variants of Homologous Recombination Repair Genes in Prostate Cancer: Critical Analysis and Experimental Design. Biology. 14(2). 117–117. 1 indexed citations
2.
Qiao, Dan, Xuyan Liu, Irene Bottillo, Ran Zhang, & Leping Shao. (2025). Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay. BMC Medical Genomics. 18(1). 158–158.
3.
Bottillo, Irene, Luigi Laino, Alessia Azzarà, et al.. (2024). A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?. Frontiers in Neuroscience. 17. 1304080–1304080.
4.
Bottillo, Irene, et al.. (2024). An inherited TBX3 alteration in a prenatal case of ulnar‐mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster. Journal of Cellular Physiology. 239(12). e31440–e31440. 1 indexed citations
5.
Bottillo, Irene, Silvia Majore, Alessandro Ferraris, et al.. (2022). Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?. European Journal of Human Genetics. 31(4). 474–478. 2 indexed citations
6.
Majore, Silvia, et al.. (2022). Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants. Archives de Pédiatrie. 29(7). 530–533. 1 indexed citations
7.
Cardinali, Giorgia, Enrica Flori, Stefania Briganti, et al.. (2020). The PI3K pathway induced by αMSH exerts a negative feedback on melanogenesis and contributes to the release of pigment. Pigment Cell & Melanoma Research. 34(1). 72–88. 17 indexed citations
8.
Wypasek, Ewa, Lidia Tomkiewicz−Pająk, Luigi Laino, et al.. (2020). Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish cases affected by hypertrophic cardiomyopathy. Polskie Archiwum Medycyny Wewnętrznej. 130(2). 89–99. 13 indexed citations
9.
Brancati, Francesco, Virginia Vega-Warner, Xiangzhong Zhao, et al.. (2018). Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. European Journal of Human Genetics. 26(9). 1266–1271. 11 indexed citations
10.
11.
Gerbino, Andrea, Irene Bottillo, Serena Milano, et al.. (2017). Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects. Cellular Physiology and Biochemistry. 44(4). 1559–1577. 13 indexed citations
12.
Zhao, Xiangzhong, Li Cui, Ting Liu, et al.. (2016). A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria. Scientific Reports. 6(1). 33920–33920. 17 indexed citations
13.
Bottillo, Irene, Viviana Caputo, Alessandro Paiardini, et al.. (2016). Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy. Data in Brief. 7. 607–613. 1 indexed citations
14.
Pizzuti, Antonio, Irene Bottillo, Francesca Inzana, et al.. (2011). Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion. Neurogenetics. 12(3). 233–240. 6 indexed citations
15.
Luigetti, Marco, Antonio Pizzuti, Stefano Bartoletti, et al.. (2010). Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency. Journal of the Neurological Sciences. 290(1-2). 150–152. 11 indexed citations
16.
Brancati, Francesco, Paola Fortugno, Irene Bottillo, et al.. (2010). Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome. The American Journal of Human Genetics. 87(2). 265–273. 91 indexed citations
17.
Sinibaldi, Lorenzo, Ghita Harifi, Irene Bottillo, et al.. (2010). A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.. PubMed. 28(2). 153–7. 29 indexed citations
18.
Bottillo, Irene, Alessandro De Luca, Annalisa Schirinzi, et al.. (2007). Functional analysis of splicing mutations in exon 7 of NF1gene. BMC Medical Genetics. 8(1). 4–4. 27 indexed citations
19.
Sárközy, Anna, Annalisa Schirinzi, Francesca Romana Lepri, et al.. (2007). Clinical lumping and molecular splitting of LEOPARD and NF1/NF1‐Noonan syndromes. American Journal of Medical Genetics Part A. 143A(9). 1009–1011. 9 indexed citations
20.
Luca, Alessandro De, Irene Bottillo, Anna Sárközy, et al.. (2005). NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome. The American Journal of Human Genetics. 77(6). 1092–1101. 106 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.

Explore authors with similar magnitude of impact

Breakdown of academic impact, for papers by Veena Rajaram Breakdown of academic impact, for papers by Anita Leys Breakdown of academic impact, for papers by Raimund Fahsold Breakdown of academic impact, for papers by Monika Goś Breakdown of academic impact, for papers by Huiming Xu Breakdown of academic impact, for papers by Víctor Martínez‐Glez Breakdown of academic impact, for papers by Angela Di Vinci Breakdown of academic impact, for papers by Yue‐Bei Luo Breakdown of academic impact, for papers by Alexa Kidd Breakdown of academic impact, for papers by Tomonaga Matsushita
Rankless by CCL
2026