Zeynep Coban Akdemir
Overview
Explore the profile of Zeynep Coban Akdemir including associated specialties, affiliations and a list of published articles.
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38
Citations
1187
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Recent Articles
11.
Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru K, et al.
Eur J Hum Genet
. 2020 May;
28(9):1243-1264.
PMID: 32376988
Previously we reported the identification of a homozygous COL27A1 (c.2089G>C; p.Gly697Arg) missense variant and proposed it as a founder allele in Puerto Rico segregating with Steel syndrome (STLS, MIM #615155);...
12.
Assia Batzir N, Posey J, Song X, Akdemir Z, Rosenfeld J, Brown C, et al.
Am J Med Genet A
. 2019 Nov;
182(1):38-52.
PMID: 31782611
White-Sutton syndrome (WHSUS) is a recently-identified genetic disorder resulting from de novo heterozygous pathogenic variants in POGZ. Thus far, over 50 individuals have been reported worldwide, however phenotypic characterization and...
13.
Lin M, Liu Z, Liu G, Zhao S, Li C, Chen W, et al.
Mol Genet Genomic Med
. 2019 Nov;
8(1):e1023.
PMID: 31774634
Background: The molecular and genetic mechanisms by which different single nucleotide variant alleles in specific genes, or at the same genetic locus, cause distinct disease phenotypes often remain unclear. Allelic...
14.
Assia Batzir N, Kishor Bhagwat P, Larson A, Akdemir Z, Baglaj M, Bofferding L, et al.
Hum Mutat
. 2019 Nov;
41(3):641-654.
PMID: 31769566
Visceral myopathy with abnormal intestinal and bladder peristalsis includes a clinical spectrum with megacystis-microcolon intestinal hypoperistalsis syndrome and chronic intestinal pseudo-obstruction. The vast majority of cases are caused by dominant...
15.
Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Akdemir Z, et al.
Am J Hum Genet
. 2019 Oct;
105(5):1005-1015.
PMID: 31630790
Lissencephaly comprises a spectrum of malformations of cortical development. This spectrum includes agyria, pachygyria, and subcortical band heterotopia; each represents anatomical malformations of brain cortical development caused by neuronal migration...
16.
Karaca E, Posey J, Bostwick B, Liu P, Gezdirici A, Yesil G, et al.
Am J Med Genet A
. 2019 Aug;
179(10):2056-2066.
PMID: 31407851
Co-occurrence of primordial dwarfism and microcephaly together with particular skeletal findings are seen in a wide range of Mendelian syndromes including microcephaly micromelia syndrome (MMS, OMIM 251230), microcephaly, short stature,...
17.
Paine I, Posey J, Grochowski C, Jhangiani S, Rosenheck S, Kleyner R, et al.
Am J Hum Genet
. 2019 Jul;
105(2):302-316.
PMID: 31256877
Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent...
18.
Pehlivan D, Bayram Y, Gunes N, Akdemir Z, Shukla A, Bierhals T, et al.
Am J Hum Genet
. 2019 Jun;
105(1):132-150.
PMID: 31230720
Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying...
19.
Volpi S, Cicalese M, Tuijnenburg P, Tool A, Cuadrado E, Abu-Halaweh M, et al.
J Allergy Clin Immunol
. 2019 Feb;
143(6):2296-2299.
PMID: 30771411
No abstract available.
20.
Liu J, Zhou Y, Liu S, Song X, Yang X, Fan Y, et al.
Hum Genet
. 2018 Jul;
137(6-7):553-567.
PMID: 30019117
With the recent advance in genome-wide association studies (GWAS), disease-associated single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) have been extensively reported. Accordingly, the issue of incorrect identification of...