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 | 258 | 2011 |
Dijital yerlilerin özellikleri ve çevrim içi ortamların tasarlanmasındaki etkileri HG Bilgiç, D Duman, SS Seferoğlu Akademik Bilişim 2 (4), 1-7, 2011 | 239 | 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 | 173 | 2012 |
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss O Diaz-Horta, D Duman, J Foster, A Sırmacı, M Gonzalez, N Mahdieh, ... PloS one 7 (11), e50628, 2012 | 170 | 2012 |
Autosomal recessive nonsyndromic deafness genes: a review D Duman, M Tekin Frontiers in bioscience: a journal and virtual library 17, 2213, 2012 | 169 | 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 | 154 | 2010 |
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 | 150 | 2016 |
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, 953-961, 2016 | 130 | 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 | 122 | 2012 |
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 | 100 | 2011 |
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, 2143-2147, 2013 | 97 | 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 | 87 | 2011 |
The c.IVS1+1G>A mutation intheGJB2 gene is prevalent and large deletions involving theGJB6 gene are not present in the Turkish population A Sirmaci, D Akcayoz-Duman, M Tekin Journal of Genetics 85, 213-216, 2006 | 85 | 2006 |
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 | 76 | 2014 |
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 | 73 | 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 | 67 | 2010 |
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 | 64 | 2013 |
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 | 62 | 2008 |
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 | 59 | 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 | 53 | 2010 |