Alessandra Renieri
Overview
Explore the profile of Alessandra Renieri including associated specialties, affiliations and a list of published articles.
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295
Citations
7116
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Recent Articles
1.
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...
2.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer A, et al.
Nat Med
. 2025 Jan;
31(2):478-489.
PMID: 39825153
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource,...
3.
Daga S, Loberti L, Rollo G, Adamo L, Colavecchio O, Brunelli G, et al.
Eur J Hum Genet
. 2024 Nov;
PMID: 39587357
No abstract available.
4.
Daga S, Loberti L, Rollo G, Adamo L, Colavecchio O, Brunelli G, et al.
Eur J Hum Genet
. 2024 Oct;
PMID: 39424670
Alport syndrome is a rare genetic kidney disease caused by variants in the COL4A3/A4/A5 genes. It's characterised by progressive kidney failure, though therapies targeting Renin-Angiotensin System can delay its progression....
5.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, et al.
medRxiv
. 2024 Sep;
PMID: 39252907
Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary...
6.
Jermy B, Lall K, Wolford B, Wang Y, Zguro K, Cheng Y, et al.
Nat Commun
. 2024 Jun;
15(1):5007.
PMID: 38866767
Polygenic scores (PGSs) offer the ability to predict genetic risk for complex diseases across the life course; a key benefit over short-term prediction models. To produce risk estimates relevant to...
7.
Martelloni G, Turchi A, Fallerini C, DeglInnocenti A, Baldassarri M, Olmi S, et al.
Front Genet
. 2024 Jun;
15:1362469.
PMID: 38841724
The impact of common and rare variants in COVID-19 host genetics has been widely studied. In particular, in Fallerini et al. (Human genetics, 2022, 141, 147-173), common and rare variants...
8.
Bhattacharya A, Parlanti P, Cavallo L, Farrow E, Spivey T, Renieri A, et al.
Hum Mol Genet
. 2024 Apr;
33(14):1229-1240.
PMID: 38652285
Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous with hundreds of identified risk genes, most affecting only a few patients. Novel missense variants in these genes are...
9.
Esposito M, Minnai F, Copetti M, Miscio G, Perna R, Piepoli A, et al.
Commun Med (Lond)
. 2024 Apr;
4(1):63.
PMID: 38575714
Background: Since the beginning of the anti-COVID-19 vaccination campaign, it has become evident that vaccinated subjects exhibit considerable inter-individual variability in the response to the vaccine that could be partly...
10.
Vitale A, Caggiano V, Martin-Nares E, Frassi M, Dagna L, Hissaria P, et al.
Semin Arthritis Rheum
. 2024 Mar;
66:152430.
PMID: 38554594
VEXAS syndrome is a recently described monogenic autoinflammatory disease capable of manifesting itself with a wide array of organs and tissues involvement. Orbital/ocular inflammatory manifestations are frequently described in VEXAS...