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Irene Bottillo

Carlo Forlanini Hospital(IT)

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89

Papers

1.7K

Citations

22

h-index

39

i10-index

Irene Bottillo is an academic researcher from Carlo Forlanini Hospital. The author has contributed to research in topics: Cardiomyopathy and Myosin Studies & Neurofibromatosis and Schwannoma Cases & Genomic variations and chromosomal abnormalities. The author has an h-index of 22, co-authored 76 publications.

ORCID: 0000-0003-0396-7981

Research Topics

Cardiomyopathy and Myosin Studies Neurofibromatosis and Schwannoma Cases Genomic variations and chromosomal abnormalities Congenital heart defects research RNA Research and Splicing

Papers by this author

works

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report

2013 · BMC Research Notes · 29 citations

https://doi.org/10.1186/1756-0500-6-376

Irene Bottillo Marco Castori Carmelilia De Bernardo Romano Fabbri

Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome

2021 · Scientific Reports · 22 citations

https://doi.org/10.1038/s41598-020-79827-5

Paola Pontecorvi Laura Bernardini Anna Capalbo Simona Ceccarelli

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

2018 · BMC Medical Genetics · 8 citations

https://doi.org/10.1186/s12881-018-0686-6

Ruixiao Zhang Jianhong Wang Qing Wang Yue Han

Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman

2022 · Prenatal Diagnosis · 5 citations

https://doi.org/10.1002/pd.6158

Niccolò Di Giosaffatte Irene Bottillo Luigi Laino Giovanni Iaquinta

Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy

2016 · Data in Brief · 2 citations

https://doi.org/10.1016/j.dib.2016.03.004

Irene Bottillo Daniela D’Angelantonio Viviana Caputo Alessandro Paiardini

Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay

2025 · BMC Medical Genomics · 1 citations

https://doi.org/10.1186/s12920-025-02230-4

Dan Qiao Xuyan Liu Irene Bottillo Ran Zhang

Research topics

topics

Cardiomyopathy and Myosin Studies

Neurofibromatosis and Schwannoma Cases

Genomic variations and chromosomal abnormalities

Congenital heart defects research

RNA Research and Splicing

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