Irene Bottillo | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
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
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
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria	SCIENTIFIC REPORTS	2016

ERC

LS2_1
LS2_5
LS2_14

KET

Life-science technologies & biotechnologies

Keywords

medical genetics

clinical exome sequencing

exome sequencing

Exome

whole exome sequencing