Tahsin Stefan Barakat
Overview
Explore the profile of Tahsin Stefan Barakat including associated specialties, affiliations and a list of published articles.
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76
Citations
1469
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Recent Articles
1.
Verbinnen I, Douzgou Houge S, Hsieh T, Lesmann H, Kirchhoff A, Genevieve D, et al.
Am J Hum Genet
. 2025 Feb;
112(3):554-571.
PMID: 39978342
Pathogenic variants resulting in protein phosphatase 2A (PP2A) dysfunction result in mild to severe neurodevelopmental delay. PP2A is a trimer of a catalytic (C) subunit, scaffolding (A) subunit, and substrate...
2.
Wolf van der Meer J, Larue A, van der Knaap J, Chalkley G, Sijm A, Beikmohammadi L, et al.
Genes Dev
. 2025 Feb;
39(5-6):401-422.
PMID: 39919828
Pathogenic variants in the ubiquitin-specific protease 7 () gene cause a neurodevelopmental disorder called Hao-Fountain syndrome. However, it remains unclear which of USP7's pleiotropic functions are relevant for neurodevelopment. Here,...
3.
Tedja M, Swierkowska-Janc J, Enthoven C, Meester-Smoor M, Hysi P, Felix J, et al.
Hum Genet
. 2025 Jan;
144(1):67-91.
PMID: 39774722
Refractive error (RE) and myopia are complex polygenic conditions with the majority of genome-wide associated genetic variants in non-exonic regions. Given this, and the onset during childhood, gene-regulation is expected...
4.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, et al.
Genet Med
. 2024 Dec;
27(3):101348.
PMID: 39737487
Purpose: The thousand and one kinase (TAOK) proteins are a group of serine/threonine-protein kinases involved in signaling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental...
5.
Maroni M, Barton M, Lynch K, Deshwar A, Campbell P, Millard J, et al.
medRxiv
. 2024 Nov;
PMID: 39574879
Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of remains unclear. Here, we...
6.
Venema M, Albuainain F, Schot R, Roozenbeek B, Sleutels F, van Ham T, et al.
Clin Genet
. 2024 Nov;
107(3):341-347.
PMID: 39552268
Moyamoya angiopathy is a cerebral vasculopathy causing progressive stenosis of the internal carotid arteries and the compensatory development of collateral blood vessels, leading to brain ischemia and an increased risk...
7.
van der Laan L, Silva A, Kleinendorst L, Rooney K, Haghshenas S, Lauffer P, et al.
HGG Adv
. 2024 Nov;
6(1):100380.
PMID: 39501558
Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, seizures, autistic features, and/or behavior abnormalities. It is caused by...
8.
Delgado-Vega A, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, et al.
Nat Genet
. 2024 Oct;
56(11):2287-2294.
PMID: 39433890
No abstract available.
9.
Amato M, Balsells S, Martorell L, Alcala San Martin A, Ansell K, Borresen M, et al.
Eur J Paediatr Neurol
. 2024 Oct;
53:63-72.
PMID: 39413657
Background And Objectives: Developmental and epileptic encephalopathy 56 (DEE-56) is caused by pathogenic variants in YWHAG and is characterized by early-onset epilepsy and neurodevelopmental delay. This study reports on a...
10.
Furia F, Levy A, Theunis M, Bamshad M, Bartos M, Bijlsma E, et al.
Clin Genet
. 2024 Jul;
106(5):574-584.
PMID: 38988293
ANK3 encodes ankyrin-G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin-G isoforms comprising different domains with distinct expression patterns. Mono- or biallelic ANK3...