Ritratto di irene.bottillo@uniroma1.it
Titolo Rivista Anno
Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome SCIENTIFIC REPORTS 2021
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 CANCER LETTERS 2021
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion EUROPEAN JOURNAL OF MEDICAL GENETICS 2020
Harmonization of Next-Generation Sequencing Procedure in Italian Laboratories: A Multi-Institutional Evaluation of the SiRe® Panel FRONTIERS IN ONCOLOGY 2020
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ 2020
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome DERMATOLOGY ONLINE JOURNAL 2020
Autism Spectrum Disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene PSYCHIATRIC GENETICS 2019
Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report BMC NEPHROLOGY 2018
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 BMC MEDICAL GENETICS 2018
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome EUROPEAN JOURNAL OF HUMAN GENETICS 2018
A novel germline mutation in CDK4 codon 24 associated to familial melanoma CLINICAL GENETICS 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 2017
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review CARDIOVASCULAR PATHOLOGY 2016
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY 2016
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy DATA IN BRIEF 2016
Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16 BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY 2016
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. GENE 2015
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas EUROPEAN JOURNAL OF HUMAN GENETICS 2015