Claudio Graziano
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Explore the profile of Claudio Graziano including associated specialties, affiliations and a list of published articles.
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87
Citations
948
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Recent Articles
1.
Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, Lesieur-Sebellin M, et al.
Am J Hum Genet
. 2025 Mar;
PMID: 40081376
The Mediator complex regulates protein-coding gene transcription by coordinating the interaction of upstream enhancers with the basal transcription machinery at the promoter. Pathogenic variants in Mediator subunits typically lead to...
2.
Contro G, Baroni M, Caraffi S, Napoli M, Artuso R, Giliberti A, et al.
Clin Genet
. 2025 Feb;
PMID: 39971730
In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability...
3.
Elhassan E, Collins K, Heneghan S, Gilbert E, Yang H, Senum S, et al.
J Nephrol
. 2025 Jan;
PMID: 39883360
Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare,...
4.
Carigi S, Olivucci G, Cristalli C, Marzo F, Isidori F, Palmieri S, et al.
Int J Cardiol
. 2025 Jan;
423:132999.
PMID: 39855353
Background: non-syndromic dilated cardiomyopathy (DCM) is found to correlate with a genetic cause in 30-40 % of cases. The identification of a causative gene variant can guide treatment options and...
5.
Godino L, Ambrosini E, Barili V, Graziano C, Garavelli L, Calabrese O, et al.
J Community Genet
. 2025 Jan;
PMID: 39797934
In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later,...
6.
Scala M, Bradley C, Howe J, Trost B, Salazar N, Shum C, et al.
Am J Hum Genet
. 2024 Dec;
112(1):154-167.
PMID: 39706195
Autism spectrum disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has...
7.
Carli D, Rondot F, Luca M, Campello A, Vallero S, Tirtei E, et al.
Cancers (Basel)
. 2024 Dec;
16(23).
PMID: 39682154
Background/objectives: Adrenocortical tumors (ACTs), including adrenocortical adenoma (ACA) and carcinoma (ACC), represent 0.3-0.4% of pediatric tumors. Beckwith-Wiedemann spectrum (BWSp) confer an increased risk of ACTs, but prognosis, management, and associated...
8.
DAbrusco F, Serpieri V, Taccagni C, Garau J, Cattaneo L, Boggioni M, et al.
Eur J Hum Genet
. 2024 Oct;
33(1):72-79.
PMID: 39394465
Joubert syndrome (JS) is a genetically heterogeneous neurodevelopmental ciliopathy. Despite exome sequencing (ES), several patients remain undiagnosed. This study aims to increase the diagnostic yield by uncovering cryptic variants through...
9.
Roychaudhury A, Lee Y, Choi T, Thomas M, Khan T, Yousaf H, et al.
Ann Neurol
. 2024 Jul;
96(5):914-931.
PMID: 39073169
Objective: Intellectual disability is often the outcome of neurodevelopmental disorders and is characterized by significant impairments in intellectual and adaptive functioning. X-linked intellectual disability (XLID) is a subset of these...
10.
Zampieri S, Cattarossi S, Ferri L, Graziano C, Santostefano M, Morrone A, et al.
Clin Genet
. 2024 Jul;
106(5):661-663.
PMID: 39023102
Here, we report the identification and functional characterization of a novel GLA variant, not detectable by routine molecular tests, in a family with FD suspicion.