Aida Bertoli-Avella
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Explore the profile of Aida Bertoli-Avella including associated specialties, affiliations and a list of published articles.
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31
Citations
194
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Recent Articles
1.
Scheidecker S, Bar S, Kroll-Hermi A, Delvallee C, Rinaldi B, Korpioja A, et al.
Eur J Hum Genet
. 2025 Mar;
PMID: 40044823
Syndromes associating both eyeball and periocular developmental anomalies, combining iris chorioretinal (ocular) coloboma and ptosis, are described in very rare clinical entities such as Baraitser-Winter cerebrofrontofacial syndrome (BWCFF). We report...
2.
Szenker-Ravi E, Ott T, Yusof A, Chopra M, Khatoo M, Pak B, et al.
Am J Hum Genet
. 2025 Jan;
112(2):353-373.
PMID: 39753129
Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ...
3.
Berger E, Jauss R, Ranells J, Zonic E, von Wintzingerode L, Wilson A, et al.
Genet Med
. 2024 Nov;
:101326.
PMID: 39540377
Purpose: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of...
4.
Chundru V, Zhang Z, Walter K, Lindsay S, Danecek P, Eberhardt R, et al.
Nat Genet
. 2024 Sep;
56(10):2046-2053.
PMID: 39313616
Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of...
5.
Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas M, Yang J, et al.
Sci Adv
. 2024 Sep;
10(37):eado5545.
PMID: 39270020
Inositol 1,4,5-trisphosphate (IP3) receptor type 1 (), (), and () encode the IP3 receptor (IP3R), a key player in intracellular calcium release. In four unrelated patients, we report that an...
6.
Alsubeeh N, Almuqbil M, Davies W, Bertoli-Avella A, Anikar S, Zonic E, et al.
Am J Med Genet A
. 2024 Aug;
197(1):e63784.
PMID: 39171352
Trichohepatoneurodevelopmental syndrome (THNS) is an ultra-rare and complex disorder affecting multiple organ systems. It is characterized by liver dysfunction, hypotonia, global developmental delay, coarse hair, and dysmorphic features. We describe...
7.
Velasco H, Bertoli-Avella A, Jaramillo C, Cardona D, Gonzalez L, Naranjo Vanegas M, et al.
Eur J Hum Genet
. 2024 Jun;
32(10):1327-1337.
PMID: 38909121
Exome and genome sequencing (ES/GS) are routinely used for the diagnosis of genetic diseases in developed countries. However, their implementation is limited in countries from Latin America. We aimed to...
8.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Nashabat M, Nabavizadeh N, Saracoglu H, Saribas B, Avci S, Borklu E, et al.
Nat Commun
. 2024 Feb;
15(1):1758.
PMID: 38413582
SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children...
9.
Salpietro V, Maroofian R, Zaki M, Wangen J, Ciolfi A, Barresi S, et al.
Am J Hum Genet
. 2023 Dec;
111(1):200-210.
PMID: 38118446
The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause...
10.
Kaiyrzhanov R, Rad A, Lin S, Bertoli-Avella A, Kallemeijn W, Godwin A, et al.
Brain
. 2023 Nov;
147(4):1436-1456.
PMID: 37951597
The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However,...