Zeynep Tumer
Overview
Explore the profile of Zeynep Tumer including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
173
Citations
3357
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Tumer Z, Dalsberg J, Ronde G, Sorensen J, Ostergaard E
Clin Genet
. 2025 Feb;
PMID: 39993774
Nonsense-mediated mRNA decay (NMD) plays a crucial role in degrading aberrant transcripts with premature termination codons, with the Up-frameshift (UPF) protein family-UPF1, UPF2, and UPF3A/UPF3B-being vital components of this machinery....
2.
Schmid C, Gregor A, Ruiz A, Manso Bazus C, Herman I, Ammouri F, et al.
Eur J Hum Genet
. 2024 Dec;
PMID: 39668183
While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled...
3.
Olsen T, Ek J, Bak M, Gronskov K, Bache I, Farholt S, et al.
Clin Genet
. 2024 Dec;
PMID: 39667803
Maternal uniparental disomy of chromosome 14, upd(14)mat, leads to Temple syndrome (TS), an imprinting disorder characterized by pre- and postnatal growth retardation, hypotonia, motor delay, joint laxity, and precocious puberty....
4.
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.
5.
Mackay D, Gazdagh G, Monk D, Brioude F, Giabicani E, Krzyzewska I, et al.
Clin Epigenetics
. 2024 Aug;
16(1):99.
PMID: 39090763
Background: Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with imprinting disorders...
6.
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...
7.
Tvergaard N, Tkemaladze T, Stodberg T, Kvarnung M, Tatton-Brown K, Baralle D, et al.
Clin Genet
. 2024 Jun;
106(4):427-436.
PMID: 38890806
Ionotropic glutamate receptors (iGluRs), specifically α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors (AMPARs), play a crucial role in orchestrating excitatory neurotransmission in the brain. AMPARs are intricate assemblies of subunits encoded by four...
8.
Niceta M, Ciolfi A, Ferilli M, Pedace L, Cappelletti C, Nardini C, et al.
Eur J Hum Genet
. 2024 Mar;
32(7):819-826.
PMID: 38528056
Autosomal dominant Kabuki syndrome (KS) is a rare multiple congenital anomalies/neurodevelopmental disorder caused by heterozygous inactivating variants or structural rearrangements of the lysine-specific methyltransferase 2D (KMT2D) gene. While it is...
9.
Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report
Boysen K, Tumer Z, Bach-Holm D, Bisgaard A, Kessel L
Ophthalmic Genet
. 2024 Feb;
45(3):313-318.
PMID: 38299479
Background: Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively....
10.
Kassabian B, Levy A, Gardella E, Aledo-Serrano A, Ananth A, Brea-Fernandez A, et al.
Epilepsia
. 2023 Dec;
65(4):1029-1045.
PMID: 38135915
Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The...