Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis
Koparir, Asuman, Karatas, Omer F, Yuceturk, Betul, Yuksel, Bayram, Bayrak, Ali O, Gerdan, Omer F, Sagiroglu, Mahmut S, Gezdirici, Alper, Kirimtay, Koray, Selcuk, Ece, Karabay, Arzu, Creighton, Chad J, Yuksel, Adnan, Ozen, Mustafa
Published in Human molecular genetics (01.10.2015)
Published in Human molecular genetics (01.10.2015)
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Journal Article
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation
Dursun, Ali, Yalnizoglu, Dilek, Gerdan, Omer F, Yucel-Yilmaz, Didem, Sagiroglu, Mahmut S, Yuksel, Bayram, Gucer, Safak, Sivri, Serap, Ozgul, Riza K
Published in Clinical dysmorphology (01.01.2017)
Published in Clinical dysmorphology (01.01.2017)
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Journal Article
A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family
Tuncer, Feyza N, Gormez, Zeliha, Calik, Mustafa, Altiokka Uzun, Gunes, Sagiroglu, Mahmut S, Yuceturk, Betul, Yuksel, Bayram, Baykan, Betul, Bebek, Nerses, Iscan, Akin, Ugur Iseri, Sibel A, Ozbek, Ugur
Published in Epilepsy research (01.07.2015)
Published in Epilepsy research (01.07.2015)
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Journal Article
Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene
Sonmez, Fatma Mujgan, Uctepe, Eyyup, Gunduz, Mehmet, Gormez, Zeliha, Erpolat, Seval, Oznur, Murat, Sagiroglu, Mahmut Samil, Demirci, Huseyin, Gunduz, Esra
Published in Intractable & Rare Diseases Research (01.08.2016)
Published in Intractable & Rare Diseases Research (01.08.2016)
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Journal Article
Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene
Bayrakli, Fatih, Poyrazoglu, Hatice Gamze, Yuksel, Sirin, Yakicier, Cengiz, Erguner, Bekir, Sagiroglu, Mahmut Samil, Yuceturk, Betul, Ozer, Bugra, Doganay, Selim, Tanrikulu, Bahattin, Seker, Askin, Akbulut, Fatih, Ozen, Ali, Per, Huseyin, Kumandas, Sefer, Altuner Torun, Yasemin, Bayri, Yasar, Sakar, Mustafa, Dagcinar, Adnan, Ziyal, Ibrahim
Published in Journal of human genetics (01.12.2015)
Published in Journal of human genetics (01.12.2015)
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Journal Article
HomSI: a homozygous stretch identifier from next-generation sequencing data
Görmez, Zeliha, Bakir-Gungor, Burcu, Sagiroglu, Mahmut Samil
Published in Bioinformatics (01.02.2014)
Published in Bioinformatics (01.02.2014)
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Journal Article
Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype
Bayrakli, Fatih, Guclu, Bulent, Yakicier, Cengiz, Balaban, Hatice, Kartal, Ugur, Erguner, Bekir, Sagiroglu, Mahmut Samil, Yuksel, Sirin, Ozturk, Ahmet Rasit, Kazanci, Burak, Ozum, Unal, Kars, Hamit Zafer
Published in BMC genetics (28.09.2013)
Published in BMC genetics (28.09.2013)
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Journal Article
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling
Cetinkaya, Arda, Xiong, Jingwei Rachel, Vargel, İbrahim, Kösemehmetoğlu, Kemal, Canter, Halil İbrahim, Gerdan, Ömer Faruk, Longo, Nicola, Alzahrani, Ahmad, Camps, Mireia Perez, Taskiran, Ekim Zihni, Laupheimer, Simone, Botto, Lorenzo D., Paramalingam, Eeswari, Gormez, Zeliha, Uz, Elif, Yuksel, Bayram, Ruacan, Şevket, Sağıroğlu, Mahmut Şamil, Takahashi, Tokiharu, Reversade, Bruno, Akarsu, Nurten Ayse
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Journal Article
Myophosphorylase ( PYGM ) mutations determined by next generation sequencing in a cohort from turkey with McArdle disease
Inal-Gültekin, Güldal, Toptaş-Hekimoğlu, Bahar, Görmez, Zeliha, Gelişin, Özlem, Durmuş, Hacer, Ergüner, Bekir, Demirci, Hüseyin, Sağıroğlu, Mahmut Ş, Parman, Yeşim, Deymeer, Feza, Yılmaz-Aydoğan, Hülya, Pençe, Sadrettin, Bekircan-Kurt, Can Ebru, Tan, Ersin, Erdem-Özdamar, Sevim, Üstek, Duran, Giger, Urs, Öztürk, Oğuz, Serdaroğlu-Oflazer, Piraye
Published in Neuromuscular disorders : NMD (01.11.2017)
Published in Neuromuscular disorders : NMD (01.11.2017)
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Journal Article
A System Architecture for Efficient Transmission of Massive DNA Sequencing Data
Sağiroğlu, Mahmut Şamİl, Külekcİ, M Oğuzhan
Published in Journal of computational biology (01.11.2017)
Published in Journal of computational biology (01.11.2017)
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Journal Article
Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span
Yücel-Yılmaz, Didem, Yücesan, Emrah, Yalnızoğlu, Dilek, Oğuz, Kader Karlı, Sağıroğlu, Mahmut Şamil, Özbek, Uğur, Serdaroğlu, Esra, Bilgiç, Başar, Erdem, Sevim, İşeri, Sibel Aylin Uğur, Hanağası, Haşmet, Gürvit, Hakan, Özgül, Rıza Köksal, Dursun, Ali
Published in Brain & development (Tokyo. 1979) (01.06.2018)
Published in Brain & development (Tokyo. 1979) (01.06.2018)
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Journal Article
GeneCOST: a novel scoring-based prioritization framework for identifying disease causing genes
Ozer, Bugra, Sağıroğlu, Mahmut, Demirci, Hüseyin
Published in Bioinformatics (Oxford, England) (15.11.2015)
Published in Bioinformatics (Oxford, England) (15.11.2015)
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Journal Article
Robustness of Massively Parallel Sequencing Platforms
Kavak, Pınar, Yüksel, Bayram, Aksu, Soner, Kulekci, M Oguzhan, Güngör, Tunga, Hach, Faraz, Şahinalp, S Cenk, Alkan, Can, Sağıroğlu, Mahmut Şamil
Published in PloS one (18.09.2015)
Published in PloS one (18.09.2015)
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Journal Article
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia
Alanay, Yasemin, Ergüner, Bekir, Utine, Eda, Haçarız, Orçun, Kiper, Pelin Ozlem Simsek, Taşkıran, Ekim Zihni, Perçin, Ferda, Uz, Elif, Sağıroğlu, Mahmut Şamil, Yuksel, Bayram, Boduroglu, Koray, Akarsu, Nurten Ayse
Published in American journal of medical genetics. Part A (01.02.2014)
Published in American journal of medical genetics. Part A (01.02.2014)
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Journal Article
Performance comparison of Next Generation sequencing platforms
Erguner, Bekir, Ustek, Duran, Sagiroglu, Mahmut S.
Published in 2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) (01.01.2015)
Published in 2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) (01.01.2015)
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