Mahmut Samil Sagiroglu
Overview
Explore the profile of Mahmut Samil Sagiroglu including associated specialties, affiliations and a list of published articles.
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15
Citations
191
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Recent Articles
1.
Yucel-Yilmaz D, Yucesan E, Yalnizoglu D, Karli Oguz K, Sagiroglu M, Ozbek U, et al.
Brain Dev
. 2018 Mar;
40(6):458-464.
PMID: 29544888
Hereditary spastic paraplegias (HSPs) are a group of genetic disorders resulting in pyramidal tract impairment, predominantly in lower limbs. KIF1C gene has recently been identified as one of the genetic...
2.
Kilic M, Oguz K, Kilic E, Yuksel D, Demirci H, Sagiroglu M, et al.
Metab Brain Dis
. 2017 Jul;
32(5):1389-1393.
PMID: 28752220
MRPS22 gene defect is a very rare newly discovered mitochondrial disorder. We report a 4-month-old severely affected male infant with MRPS22 mutation. Whole exome sequencing revealed a novel homozygous splicing...
3.
Sagiroglu M, Kulekci M
J Comput Biol
. 2017 Apr;
24(11):1081-1088.
PMID: 28414531
The DNA sequencing data analysis pipelines require significant computational resources. In that sense, cloud computing infrastructures appear as a natural choice for this processing. However, the first practical difficulty in...
4.
Sonmez F, Uctepe E, Gunduz M, Gormez Z, Erpolat S, Oznur M, et al.
Intractable Rare Dis Res
. 2016 Sep;
5(3):222-6.
PMID: 27672547
Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit...
5.
Cetinkaya A, Xiong J, Vargel I, Kosemehmetoglu K, Canter H, Gerdan O, et al.
Am J Hum Genet
. 2016 Aug;
99(2):299-317.
PMID: 27476657
Vascular malformations are non-neoplastic expansions of blood vessels that arise due to errors during angiogenesis. They are a heterogeneous group of sporadic or inherited vascular disorders characterized by localized lesions...
6.
Bayrakli F, Poyrazoglu H, Yuksel S, Yakicier C, Erguner B, Sagiroglu M, et al.
J Hum Genet
. 2015 Oct;
60(12):763-8.
PMID: 26423925
We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one consanguineous family followed by combined homozygosity mapping and...
7.
Kavak P, Yuksel B, Aksu S, Kulekci M, Gungor T, Hach F, et al.
PLoS One
. 2015 Sep;
10(9):e0138259.
PMID: 26382624
The improvements in high throughput sequencing technologies (HTS) made clinical sequencing projects such as ClinSeq and Genomics England feasible. Although there are significant improvements in accuracy and reproducibility of HTS...
8.
Hacariz O, Akgun M, Kavak P, Yuksel B, Sagiroglu M
BMC Genomics
. 2015 May;
16:366.
PMID: 25956885
Background: Fasciola hepatica causes chronic liver disease, fasciolosis, leading to significant losses in the livestock economy and concerns for human health in many countries. The identification of F. hepatica genes...
9.
Akizu N, Cantagrel V, Zaki M, Al-Gazali L, Wang X, Rosti R, et al.
Nat Genet
. 2015 Apr;
47(5):528-34.
PMID: 25848753
Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new clinically distinguishable recessive syndrome in...
10.
Koparir A, Karatas O, Atayoglu A, Yuksel B, Sagiroglu M, Seven M, et al.
Gene
. 2015 Apr;
563(2):215-8.
PMID: 25834954
Usher syndrome is a clinically and genetically heterogeneous autosomal recessive inherited disorder accompanied by hearing loss and retinitis pigmentosa (RP). Since the associated genes are various and quite large, we...