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Simone Bargiacchi

Observed name: S. Bargiacchi
ORCID: 0000-0001-5276-7500
Observed ORCID: 0000-0001-5276-7500
OpenAlex ID: A5003766715
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
2021 · Chiara Nicolazzo, Ludovic Barault, et al. · Cancer Letters · 28
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Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement
2016 · Luigi Laino, Irene Bottillo, et al. · European Journal of Paediatric Neurology · 10
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?
2022 · Niccolò Di Giosaffatte, Alessandro Ferraris, et al. · Genes · 9
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Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
2022 · Irene Bottillo, Emanuele Savino, et al. · European Journal of Human Genetics · 6
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Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman
2022 · Niccolò Di Giosaffatte, Irene Bottillo, et al. · Prenatal Diagnosis · 6
A novel germline mutation in CDK4 codon 24 associated to familial melanoma
2017 · I. Bottillo, R. La Starza, et al. · Clinical Genetics · 5
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
2024 · Irene Bottillo, Luigi Laino, et al. · Frontiers in Neuroscience · 1
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Works count: 7
Citation count: 65
H-index: 5
I10-index: 2
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