Irene Bottillo | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?	FRONTIERS IN NEUROSCIENCE	2024
Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay	CLINICAL GENETICS	2024
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome	MOLECULAR GENETICS & GENOMIC MEDICINE	2023
RADX Gene Variant May Predispose to Familial Asperger Syndrome	GENES	2023
Congenital heart defects in the recurrent 2q13 deletion syndrome	EUROPEAN JOURNAL OF MEDICAL GENETICS	2022
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman	PRENATAL DIAGNOSIS	2022
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report	GENES	2022
Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants	ARCHIVES DE PEDIATRIE	2022
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?	EUROPEAN JOURNAL OF HUMAN GENETICS	2022
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

ERC

LS2_1
LS2_5
LS2_14

KET

Life-science technologies & biotechnologies

Keywords

medical genetics

clinical exome sequencing

exome sequencing

Exome

whole exome sequencing