Alpha 2.0
Login Register
» Authors » Davut Pehlivan

Davut Pehlivan

Explore the profile of Davut Pehlivan including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 131
Citations 2774
Followers 0
Related Specialties
Genetics
Neurology
Pediatrics
Top 10 Co-Authors
James R Lupski
Richard A Gibbs
Jennifer E Posey
Shalini N Jhangiani
Tadahiro Mitani
Dana Marafi
Jawid M Fatih
Ender Karaca
Claudia M B Carvalho
Haowei Du
Published In
Am J Hum Genet
Genet Med
Am J Med Genet A
Pediatr Neurol
Brain
Affiliations
Soon will be listed here.
Recent Articles
1.
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Dharmadhikari A, Abad M, Khan S, Maroofian R, Sands T, Ullah F, et al.
Nat Commun . 2025 Feb; 16(1):1703. PMID: 39962046
SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by...
2.
Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders
Pehlivan D, Huang C, Harris H, Coquery C, Mahat A, Maletic-Savatic M, et al.
Ann Clin Transl Neurol . 2025 Jan; 12(2):433-447. PMID: 39838601
Objective: Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under- and overexpression of MECP2, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and...
3.
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Pehlivan D, Bengtsson J, Bajikar S, Grochowski C, Lun M, Gandhi M, et al.
Genome Med . 2024 Dec; 16(1):146. PMID: 39696717
Background: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic...
4.
The impact of the Turkish population variome on the genomic architecture of rare disease traits
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...
5.
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
Barish S, Lin S, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, et al.
Am J Hum Genet . 2024 Oct; 111(11):2566-2581. PMID: 39471804
WD repeat domain 83 opposite strand (WDR83OS) encodes the 106-aa (amino acid) protein Asterix, which heterodimerizes with CCDC47 to form the PAT (protein associated with ER translocon) complex. This complex...
6.
Cerebral Sinus Venous Thrombosis in Pediatric Acute Lymphoblastic Leukemia: Incidence, Clinical Characteristics, and Long-term Neurologic Outcomes
Johnson-Bishop L, Karakas C, Kralik S, Cohen C, Zobeck M, Park N, et al.
J Child Neurol . 2024 Sep; 39(13-14):494-499. PMID: 39324216
Objective: To describe the incidence, clinical characteristics, and long-term outcomes of cerebral sinus venous thrombosis in children with acute lymphoblastic leukemia. Methods: This was a retrospective cohort study comprising pediatric...
7.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
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...
8.
Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels
Bajikar S, Sztainberg Y, Trostle A, Tirumala H, Wan Y, Harrop C, et al.
Hum Mol Genet . 2024 Sep; 33(22):1986-2001. PMID: 39277796
Genomic copy-number variations (CNVs) that can cause neurodevelopmental disorders often encompass many genes, which complicates our understanding of how individual genes within a CNV contribute to pathology. MECP2 duplication syndrome...
9.
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, et al.
Genet Med . 2024 Sep; :101251. PMID: 39275948
Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar...
10.
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Banks E, Francis V, Lin S, Kharfallah F, Fonov V, Levesque M, et al.
Nat Commun . 2024 Aug; 15(1):7239. PMID: 39174524
Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a...