Irene Bottillo | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations	GENES	2022
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?	GENES	2022
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
The PI3K pathway induced by αMSH exerts a negative feedback on melanogenesis and contributes to the release of pigment	PIGMENT CELL & MELANOMA RESEARCH	2021
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	DIAGNOSTICS	2021
Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay	HUMAN MUTATION	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
A single center retrospective review of patients from central italy tested for melanoma predisposition genes	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2020
Six exonic variants in the SLC5A2 gene cause exon skipping in a minigene assay	FRONTIERS IN GENETICS	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
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I	ENDOCRINE	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 mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II	FEBS OPENBIO	2018

ERC

LS2_1
LS2_5
LS2_14

KET

Life-science technologies & biotechnologies

Keywords

medical genetics

clinical exome sequencing

exome sequencing

Exome

whole exome sequencing