|Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia|
A Sirmaci, M Spiliopoulos, F Brancati, E Powell, D Duman, A Abrams, ...
The American Journal of Human Genetics 89 (2), 289-294, 2011
|Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative …|
SE Degn, L Jensen, AG Hansen, D Duman, M Tekin, JC Jensenius, ...
The Journal of Immunology 189 (8), 3957-3969, 2012
|Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss|
O Diaz-Horta, D Duman, J Foster II, A Sırmacı, M Gonzalez, N Mahdieh, ...
PloS one 7 (11), e50628, 2012
|MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes|
A Sirmaci, T Walsh, H Akay, M Spiliopoulos, YB Şakalar, ...
The American Journal of Human Genetics 87 (5), 679-686, 2010
|Autosomal recessive nonsyndromic deafness genes: a review|
D Duman, M Tekin
Frontiers in bioscience: a journal and virtual library 17, 2213, 2012
|Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort|
G Bademci, J Foster, N Mahdieh, M Bonyadi, D Duman, FB Cengiz, ...
Genetics in Medicine 18 (4), 364-371, 2016
|Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss|
KO Yariz, D Duman, CZ Seco, J Dallman, M Huang, TA Peters, A Sirmaci, ...
The American Journal of Human Genetics 91 (5), 872-882, 2012
|Dijital yerlilerin özellikleri ve çevrim içi ortamların tasarlanmasındaki etkileri|
HG Bilgiç, D Duman, SS Seferoğlu
Akademik Bilişim 2 (4), 1-7, 2011
|Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents|
D Yan, D Tekin, G Bademci, J Foster, FB Cengiz, A Kannan-Sundhari, ...
Human genetics 135 (8), 953-961, 2016
|Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey|
D Duman, A Sirmaci, FB Cengiz, H Ozdag, M Tekin
Genetic testing and molecular biomarkers 15 (1-2), 29-33, 2011
|The c. IVS1+ 1G> A mutation inthe GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population|
A Sirmaci, D Akcayoz-Duman, M Tekin
Journal of Genetics 85 (3), 213-216, 2006
|High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT|
B Bulum, ZB Özçakar, E Üstüner, E Düşünceli, A Kavaz, D Duman, K Walz, ...
Pediatric Nephrology 28 (11), 2143-2147, 2013
|Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome|
KO Yariz, T Walsh, A Uzak, M Spiliopoulos, D Duman, G Onalan, MC King, ...
Fertility and sterility 96 (2), e125-e130, 2011
|A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy|
M Tekin, D Akcayoz, A Incesulu
American Journal of Medical Genetics Part A 138 (1), 6-10, 2005
|A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss|
A Sırmacı, S Erbek, J Price, M Huang, D Duman, FB Cengiz, G Bademci, ...
The American Journal of Human Genetics 86 (5), 797-804, 2010
|FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing|
O Diaz-Horta, A Subasioglu-Uzak, M Grati, A DeSmidt, J Foster, L Cao, ...
Proceedings of the National Academy of Sciences 111 (27), 9864-9868, 2014
|Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia|
M Tekin, H Öztürkmen Akay, S Fitoz, S Birnbaum, FB Cengiz, ...
Clinical genetics 73 (6), 554-565, 2008
|SLITRK6 mutations cause myopia and deafness in humans and mice|
M Tekin, BA Chioza, Y Matsumoto, O Diaz-Horta, HE Cross, D Duman, ...
The Journal of clinical investigation 123 (5), 2094-2102, 2013
|Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations|
A Sırmacı, D Duman, H Öztürkmen-Akay, S Erbek, A İncesulu, ...
International journal of pediatric otorhinolaryngology 73 (5), 699-705, 2009
|Recurrent and Private MYO15A Mutations Are Associated with Deafness in the Turkish Population|
FB Cengiz, D Duman, A Sırmacı, S Tokgöz-Yilmaz, S Erbek, ...
Genetic testing and molecular biomarkers 14 (4), 543-550, 2010