Irene Bottillo

ScholarGPS® ID: 47863556151278

Affiliation

San Camillo-Forlanini Hospital, Italy

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

Predicted Citations

1,761

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay (journal article) Wang, Zhi \| Sun, Yan \| Zhang, Yiyin \| Zhang, Yan \| Zhang, Ran \| Li, Changying \| Liu, Xuyan \| Pan, Fengjiao \| Qiao, Dan \| Shi, Xiaomeng \| ... \| Shao, Leping Clinical Genetics (2024). 10.1111/cge.14546 Cite \| Source
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? (journal article) Bottillo, Irene \| Laino, Luigi \| Azzarà, Alessia \| Lintas, Carla \| Cassano, Ilaria \| Di Lazzaro, Vincenzo \| Ursini, Francesca \| Motolese, Francesco \| Bargiacchi, Simone \| Formicola, Daniela \| ... \| Gurrieri, Fiorella Frontiers in Neuroscience, volume 17 (2024). 10.3389/fnins.2023.1304080 Cite \| Source
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome (journal article) Shi, Xiaomeng \| Wang, Hong \| Zhang, Ruixiao \| Liu, Zhiying \| Guo, Wencong \| Wang, Sai \| Liu, Xuyan \| Lang, Yanhua \| Bottillo, Irene \| Dong, Bingzi \| Shao, Leping Molecular Genetics & Genomic Medicine, volume 11, issue 4 (2023). 10.1002/mgg3.2128 Cited by (1) \| Cite \| Source
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? (journal article) Bottillo, Irene \| Savino, Emanuele \| Majore, Silvia \| Mulargia, Claudia \| Valiante, Michele \| Ferraris, Alessandro \| Rossi, Valentina \| Svegliati, Francesca \| Ciccone, Maria Pia \| Brusco, Francesca \| ... \| Grammatico, Paola European Journal of Human Genetics, volume 31, issue 4, pages 474-478 (2023). 10.1038/s41431-022-01270-z Cited by (3) \| Cite \| Source
RADX Gene Variant May Predispose to Familial Asperger Syndrome (journal article) Azzarà, Alessia \| Rumore, Roberto \| Brugnoletti, Fulvia \| Tabolacci, Elisabetta \| Bottillo, Irene \| Sangiorgi, Eugenio \| Gurrieri, Fiorella Genes, volume 14, issue 2, pages 301- (2023). 10.3390/genes14020301 Cite \| Source
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2? (journal article) Di Giosaffatte, Niccolò \| Ferraris, Alessandro \| Gaudioso, Federica \| Lodato, Valentina \| Savino, Emanuele \| Celletti, Claudia \| Camerota, Filippo \| Bargiacchi, Simone \| Laino, Luigi \| Majore, Silvia \| ... \| Grammatico, Paola Genes, volume 13, issue 12, pages 2358- (2022). 10.3390/genes13122358 Cited by (4) \| Cite \| Source
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations (journal article) Lintas, Carla \| Bottillo, Irene \| Sacco, Roberto \| Azzarà, Alessia \| Cassano, Ilaria \| Ciccone, Maria Pia \| Grammatico, Paola \| Gurrieri, Fiorella Genes, volume 13, issue 12, pages 2266- (2022). 10.3390/genes13122266 Cite \| Source
Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants (journal article) D'Angelantonio, D. \| Majore, S. \| Di Netta, T. \| Zotta, F. \| Parise, G. \| Savino, E. \| Rosignoli, S. \| Bizzarri, B. \| Signore, F. \| Grammatico, P. \| Bottillo, I. Archives de Pédiatrie, volume 29, issue 7, pages 530-533 (2022). 10.1016/j.arcped.2022.08.011 Cited by (1) \| Cite \| Source
Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman (journal article) Di Giosaffatte, Niccolò \| Bottillo, Irene \| Laino, Luigi \| Iaquinta, Giovanni \| Ferraris, Alessandro \| Garzia, Mariagrazia \| Bargiacchi, Simone \| Mulargia, Claudia \| Angelitti, Maria Rosaria \| Palumbo, Fabiana \| ... \| Grammatico, Paola Prenatal Diagnosis, volume 42, issue 8, pages 1000-1003 (2022). 10.1002/pd.6158 Cited by (2) \| Cite \| Source
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report (journal article) Di Giosaffatte, Niccolò \| Valiante, Michele \| Tricarico, Stefano \| Parise, Giulia \| De Negri, Anna Maria \| Ricciotti, Guido \| Florean, Lara \| Paiardini, Alessandro \| Bottillo, Irene \| Grammatico, Paola Genes, volume 13, issue 7, pages 1268- (2022). 10.3390/genes13071268 Cited by (5) \| Cite \| Source
Congenital heart defects in the recurrent 2q13 deletion syndrome (journal article) Digilio, M.C. \| Dentici, M.L. \| Loddo, S. \| Laino, L. \| Calcagni, G. \| Genovese, S. \| Capolino, R. \| Bottillo, I. \| Calvieri, G. \| Dallapiccola, B. \| ... \| Versacci, P. European Journal of Medical Genetics, volume 65, issue 1, pages 104381- (2022). 10.1016/j.ejmg.2021.104381 Cited by (7) \| Cite \| Source
Comparison of Two Blood-Based Genotyping Tests to Investigate the KRAS G12C Mutation in Patients with Non-Small-Cell Lung Cancer at Failure of First-Line Treatments (journal article) Nicolazzo, Chiara \| Gelibter, Alain \| Bottillo, Irene \| Belardinilli, Francesca \| Pisegna, Simona \| De Renzi, Gianluigi \| Marinelli, Daniele \| Grammatico, Paola \| Cortesi, Enrico \| Giannini, Giuseppe \| Gazzaniga, Paola Diagnostics, volume 11, issue 12, pages 2196- (2021). 10.3390/diagnostics11122196 Cited by (3) \| Cite \| Source
1252P Liquid biopsy to track KRAS G12C mutation at progressive disease in patients with advanced non-small cell lung cancer (NSCLC) (journal article) De Renzi, G. \| Nicolazzo, C. \| Pisegna, S. \| Belardinilli, F. \| Bottillo, I. \| Grammatico, P. \| Giannini, G. \| Gelibter, A.J. \| Gazzaniga, P. Annals of Oncology, volume 32 (2021). 10.1016/j.annonc.2021.08.1856 Cite \| Source
Identification of seven exonic variants in the SLC4A1 , ATP6V1B1 , and ATP6V0A4 genes that alter RNA splicing by minigene assay (journal article) Zhang, Ruixiao \| Chen, Zeqing \| Song, Qijing \| Wang, Sai \| Liu, Zhiying \| Zhao, Xiangzhong \| Shi, Xiaomeng \| Guo, Wencong \| Lang, Yanhua \| Bottillo, Irene \| Shao, Leping Human Mutation, volume 42, issue 9, pages 1153-1164 (2021). 10.1002/humu.24246 Cited by (14) \| Cite \| Source
True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature (journal article) Nicolazzo, Chiara \| Barault, Ludovic \| Caponnetto, Salvatore \| De Renzi, Gianluigi \| Belardinilli, Francesca \| Bottillo, Irene \| Bargiacchi, Simone \| Macagno, Marco \| Grammatico, Paola \| Giannini, Giuseppe \| ... \| Gazzaniga, Paola Cancer Letters, volume 507 (2021). 10.1016/j.canlet.2021.03.014 Cited by (15) \| Cite \| Source
Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome (journal article) Pontecorvi, Paola \| Bernardini, Laura \| Capalbo, Anna \| Ceccarelli, Simona \| Megiorni, Francesca \| Vescarelli, Enrica \| Bottillo, Irene \| Preziosi, Nicoletta \| Fabbretti, Maria \| Perniola, Giorgia \| ... \| Marchese, Cinzia Scientific Reports, volume 11, issue 1 (2021). 10.1038/s41598-020-79827-5 Cited by (12) \| Cite \| Source
The PI3K pathway induced by αMSH exerts a negative feedback on melanogenesis and contributes to the release of pigment (journal article) Mosca, Sarah \| Cardinali, Giorgia \| Flori, Enrica \| Briganti, Stefania \| Bottillo, Irene \| Mileo, Anna M. \| Maresca, Vittoria Pigment Cell & Melanoma Research, volume 34, issue 1, pages 72-88 (2021). 10.1111/pcmr.12910 Cited by (14) \| Cite \| Source
A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes (journal article) De Simone, Paola \| Bottillo, Irene \| Valiante, Michele \| Iorio, Alessandra \| De Bernardo, Carmelilia \| Majore, Silvia \| D’Angelantonio, Daniela \| Valentini, Tiziana \| Sperduti, Isabella \| Piemonte, Paolo \| ... \| Grammatico, Paola International Journal of Molecular Sciences, volume 21, issue 24, pages 9432- (2020). 10.3390/ijms21249432 Cited by (2) \| Cite \| Source
Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay (journal article) Wang, Sai \| Wang, Yixiu \| Wang, Jinchao \| Liu, Zhiying \| Zhang, Ruixiao \| Shi, Xiaomeng \| Han, Yue \| Guo, Wencong \| Bottillo, Irene \| Shao, Leping Frontiers in Genetics, volume 11 (2020). 10.3389/fgene.2020.585064 Cited by (11) \| Cite \| Source
Answer to Letter to the Editor regarding the article “Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion” (journal article) Pascolini, Giulia \| Valiante, Michele \| Bottillo, Irene \| Laino, Luigi \| Fleischer, Nicole \| Ferraris, Alessandro \| Grammatico, Paola European Journal of Medical Genetics, volume 63, issue 10, pages 103993- (2020). 10.1016/j.ejmg.2020.103993 Cite \| Source