List of works - Viola Alesi

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling

scientific article published on 11 November 2020

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

scientific article published on 14 June 2019

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

scientific article published on 30 May 2019

An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome

scientific article published on 05 October 2018

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile

scientific article published on 24 October 2020

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome

article

Copy number variants in autism spectrum disorders

scientific article published on 20 February 2019

First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder

scientific article published on 30 October 2018

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

scientific article published on 15 September 2018

Human placenta-derived neurospheres are susceptible to transformation after extensive in vitro expansion

scientific article

Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II

scientific article published on 30 January 2022

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

scientific article published on 01 July 2019

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

scientific article published on 15 April 2020

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome ⬇️

scientific article published on 22 March 2019

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

scientific article

Reassessment of the 12q15 deletion syndrome critical region

scientific article published on 31 January 2017

Small 4p16.3 deletions: Three additional patients and review of the literature