Antonio Novelli
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Explore the profile of Antonio Novelli including associated specialties, affiliations and a list of published articles.
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367
Citations
2806
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Recent Articles
1.
Cerroni I, Renola V, Micalizzi A, Romanelli E, De Marchi L, Ranucci G, et al.
Blood Cells Mol Dis
. 2025 Mar;
112:102920.
PMID: 40086420
No abstract available.
2.
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...
3.
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...
4.
Loberti L, Adamo L, Antolini E, Casamassima G, Destree A, Brunetti-Pierri N, et al.
Genet Med
. 2025 Feb;
:101375.
PMID: 39953909
Purpose: AUTS2-related syndrome is a condition characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters AUTS2 encodes two distinct long and short isoforms encoding a putative...
5.
Sartorelli J, Travaglini L, Garone G, Dentici M, Sinibaldi L, Digilio M, et al.
Neuropediatrics
. 2025 Feb;
PMID: 39914470
Background: Non-selective sodium leak channel (NALCN) protein encoded by the gene is of key importance for neuronal cell excitability. Previous reports showed that biallelic pathogenic variants cause infantile hypotonia with...
6.
Petillo R, De Maggio I, Piscopo C, Chetta M, Tarsitano M, Chiriatti L, et al.
Clin Genet
. 2025 Feb;
PMID: 39891531
Adult patients with undiagnosed genetic disorders suffer most from diagnostic delay and seldom appear in cohort studies investigating the diagnostic yield in medical genetic clinical practice. Here we present the...
7.
De Dominicis A, Sparascio F, Stregapede F, Terracciano A, Verrigni D, Lepri F, et al.
Am J Med Genet A
. 2025 Jan;
:e64010.
PMID: 39890443
MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as...
8.
Malaspina P, Jodice C, Ciminelli B, Biancolella M, Colona V, Latini A, et al.
Hum Genomics
. 2025 Jan;
19(1):7.
PMID: 39885568
Background: The Immunoglobulin Heavy Chain (IGH) genomic region is responsible for the production of circulating antibodies and warrants careful investigation for its association with COVID-19 characteristics. Multiple allelic variants within...
9.
Grati F, Capalbo A, Gabbiato I, Battaglia P, Pittalis M, Bizzoco D, et al.
J Assist Reprod Genet
. 2025 Jan;
PMID: 39871067
This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer...
10.
Mastromoro G, Guadagnolo D, Gianno F, Khaleghi Hashemian N, Terracciano A, Bernardini L, et al.
Am J Med Genet A
. 2025 Jan;
e64001.
PMID: 39865381
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor...