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List of works by Carmela Fusco

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

scientific article published on 15 December 2014

A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.

scientific article published on 28 February 2013

A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish

scientific article (publication date: 2012)

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

scientific article published on 24 September 2018

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

scientific article published on 6 July 2012

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

scientific article

Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains

scientific article published on 08 May 2019

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders ⬇️

scientific article published on 10 June 2019

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

scientific article published on May 2010

DPP6 gene disruption in a family with Gilles de la Tourette syndrome

scientific article published on 17 August 2014

Endothelial cell clonal expansion in the development of cerebral cavernous malformations

scientific article published on 24 June 2019

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

scientific article

HDAC6 mediates the acetylation of TRIM50.

scientific article published on 2 December 2013

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

scientific article

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations

scientific article published on 01 November 2019

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants

scientific article published on 01 July 2019

Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.

scientific article published on 30 January 2013

Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene

scientific article published on 01 May 2020

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

scientific article published on 27 June 2019

TRIM50 regulates Beclin 1 proautophagic activity.

scientific article published on 28 March 2018

TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival

scientific article published on 16 June 2015

TRIM8 modulates p53 activity to dictate cell cycle arrest.

scientific article published on February 2012

TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways

scientific article published on 05 December 2018

The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome

scientific article

Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

scientific article

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