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Zeynep Coban-Akdemir

Explore the profile of Zeynep Coban-Akdemir including associated specialties, affiliations and a list of published articles. Areas
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Articles 56
Citations 1005
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Recent Articles
1.
Bozkurt-Yozgatli T, Lun M, Bengtsson J, Sezerman U, Chinn I, Coban-Akdemir Z, et al.
Eur J Hum Genet . 2025 Feb; PMID: 40021841
Inversions are known contributors to the pathogenesis of genetic diseases. Identifying inversions poses significant challenges, making it one of the most demanding structural variants (SVs) to detect and interpret. Recent...
2.
Coban-Akdemir Z, Song X, Ceballos F, Pehlivan D, Karaca E, Bayram Y, et al.
Genet Med Open . 2024 Dec; 2:101830. PMID: 39669594
Purpose: The variome of the Turkish (TK) population, a population with a considerable history of admixture and consanguinity, has not been deeply investigated for insights on the genomic architecture of...
3.
Rai A, Klonowski J, Yuan B, Coveler K, Dardas Z, Egab I, et al.
medRxiv . 2024 Nov; PMID: 39606420
Laterality defects are defined by perturbations in the usual left-right asymmetry of organs. Due to low known genetic etiology of congenital heart disease (CHD) cases (less than 40%), we used...
4.
Bozkurt-Yozgatli T, Lun M, Bengtsson J, Sezerman U, Chinn I, Coban-Akdemir Z, et al.
medRxiv . 2024 Nov; PMID: 39574843
Inversions are known contributors to the pathogenesis of genetic diseases. Identifying inversions poses significant challenges, making it one of the most demanding structural variants (SVs) to detect and interpret. Recent...
5.
Calame D, Wong J, Panda P, Nguyen D, Leong N, Sangermano R, et al.
Genet Med . 2024 Sep; 27(1):101273. PMID: 39306721
Purpose: FLVCR1 encodes a solute carrier protein implicated in heme, choline, and ethanolamine transport. Although Flvcr1 mice exhibit skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia (DBA), biallelic FLVCR1...
6.
Bozkurt-Yozgatli T, Pehlivan D, Gibbs R, Sezerman U, Posey J, Lupski J, et al.
BMC Med Genomics . 2024 Aug; 17(1):201. PMID: 39113026
No abstract available.
7.
Bozkurt-Yozgatli T, Pehlivan D, Gibbs R, Sezerman U, Posey J, Lupski J, et al.
BMC Med Genomics . 2024 Apr; 17(1):85. PMID: 38622594
Background: Multilocus pathogenic variants (MPVs) are genetic changes that affect multiple gene loci or regions of the genome, collectively leading to multiple molecular diagnoses. MPVs may also contribute to intrafamilial...
8.
Dardas Z, Fatih J, Jolly A, Dawood M, Du H, Grochowski C, et al.
Genome Med . 2024 Apr; 16(1):53. PMID: 38570875
Background: NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown to...
9.
Calame D, Wong J, Panda P, Nguyen D, Leong N, Sangermano R, et al.
medRxiv . 2024 Feb; PMID: 38405817
encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and...
10.
Poli M, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martin L, et al.
Eur J Hum Genet . 2024 Jan; 32(10):1227-1237. PMID: 38177409
Rare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings, particularly exome and genome sequencing, has resulted in an...