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List of works by Evelise Riberi

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

scientific article published in December 2015

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

scientific article

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

scientific article

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

scientific article published on 19 December 2016

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

scientific article published on 30 October 2018

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations

scientific article published on 18 March 2019

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

scientific article published on 03 September 2018

Syndromic Disorders Caused by Disturbed Human Imprinting

scientific article published on 10 April 2019

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