Roberta Onesimo

Dr. Roberta Onesimo

orcid

Research Focus & Metrics

Academic Career Length

24Years (2003-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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3 May 2012 in Clinical & Experimental Allergy
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Journal Article
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SSStefano Miceli Sopo
Stefano Miceli Sopo
VGV. Giorgio
V. Giorgio
III. Dello Iacono
I. Dello Iacono
ENE. Novembre
E. Novembre
FMF. Mori
F. Mori
RORoberta Onesimo
Roberta Onesimo

20 July 2012 in American Journal of Medical Genetics Part A
Verified
Journal Article
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RORoberta Onesimo
Roberta Onesimo
DODaniela Orteschi
Daniela Orteschi
MSMaria Scalzone
Maria Scalzone
ARAurora Rossodivita
Aurora Rossodivita
LNLorenzo Nanni
Lorenzo Nanni
VNVeronica Nobile
Veronica Nobile

5 January 2010 in Rheumatology International
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Journal Article
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Donato RiganteDonato Rigante
Donato Rigante
PVPiero Valentini
Piero Valentini
DRDaniela Rizzo
Daniela Rizzo
ALAndrea Leo
Andrea Leo
GRGabriella De Rosa
Gabriella De Rosa
ADAngelica Bibiana Delogu
Angelica Bibiana Delogu

5 May 2021 in Clinical Genetics
Verified
Journal Article
Open access
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IPIlaria Parenti
Ilaria Parenti
MMMark B. Mallozzi
Mark B. Mallozzi
IHIrina Hüning
Irina Hüning
CGCristina Gervasini
Cristina Gervasini
AKAlma Kuechler
Alma Kuechler
FKFrank J. Kaiser
Frank J. Kaiser
Mutations affecting the transcriptional regulator Ankyrin Repeat Domain 11 (ANKRD11) are mainly associated with the multisystem developmental disorder known as KBG syndrome, but have also been identified in individuals with Cornelia de Lange syndrome (CdLS) and other developmental disorders caused by variants affecting different chromatin regulators. The extensive functional overlap of these proteins results in shared phenotypical features, which complicate the assessment of the clinical diagnosis. Additionally, re‐evaluation of individuals at a later age occasionally reveals that the initial phenotype has evolved toward clinical features more reminiscent of a developmental disorder different from the one that was initially diagnosed. For this reason, variants in ANKRD11 can be ascribed to a broader class of disorders that fall within the category of the so‐called chromatinopathies. In this work, we report on the clinical characterization of 23 individuals with variants in ANKRD11. The subjects present primarily with developmental delay, intellectual disability and dysmorphic features, and all but two received an initial clinical diagnosis of either KBG syndrome or CdLS. The number and the severity of the clinical signs are overlapping but variable and result in a broad spectrum of phenotypes, which could be partially accounted for by the presence of additional molecular diagnoses and distinct pathogenic mechanisms.

6 May 2019 in American Journal of Medical Genetics Part A
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Journal Article
Closed access
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CLchiara leoni
chiara leoni
GGGiuseppe Gullo
Giuseppe Gullo
NRNicoletta Resta
Nicoletta Resta
AFAnna Fagotti
Anna Fagotti
RORoberta Onesimo
Roberta Onesimo
GZGiuseppe Zampino
Giuseppe Zampino

1 March 2016 in The Journal of Pediatrics
Verified
Journal Article
Closed access
CLchiara leoni
chiara leoni
RORoberta Onesimo
Roberta Onesimo
VGValentina Giorgio
Valentina Giorgio
ADAntonella Diamanti
Antonella Diamanti
DGDaniela Giorgio
Daniela Giorgio
GZGiuseppe Zampino
Giuseppe Zampino