|GJB2 mutations and degree of hearing loss: a multicenter study|
RL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ...
The American Journal of Human Genetics 77 (6), 945-957, 2005
|The promise of whole-exome sequencing in medical genetics|
B Rabbani, M Tekin, N Mahdieh
Journal of human genetics 59 (1), 5-15, 2014
|Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy|
P Navon Elkan, SB Pierce, R Segel, T Walsh, J Barash, S Padeh, ...
New England Journal of Medicine 370 (10), 921-931, 2014
|Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome|
HG Kim, I Kurth, F Lan, I Meliciani, W Wenzel, SH Eom, GB Kang, ...
The American Journal of Human Genetics 83 (4), 511-519, 2008
|Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly|
JE Ming, ME Kaupas, E Roessler, HG Brunner, M Golabi, M Tekin, ...
Human genetics 110 (4), 297-301, 2002
|Advances in hereditary deafness|
M Tekin, KS Arnos, A Pandya
The Lancet 358 (9287), 1082-1090, 2001
|Genotype–phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: evidence for mutation-independent amyloidosis|
F Yalçınkaya, N Cakar, M Mısırlıoğlu, N Tümer, N Akar, M Tekin, H Taştan, ...
Rheumatology 39 (1), 67-72, 2000
|Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48|
S Riazuddin, IA Belyantseva, APJ Giese, K Lee, AA Indzhykulian, ...
Nature genetics 44 (11), 1265-1271, 2012
|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
|Digestion of chromatin in apoptotic cell microparticles prevents autoimmunity|
V Sisirak, B Sally, V D’Agati, W Martinez-Ortiz, ZB Özçakar, J David, ...
Cell 166 (1), 88-101, 2016
|WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome|
HG Kim, JW Ahn, I Kurth, R Ullmann, HT Kim, A Kulharya, KS Ha, ...
The American Journal of Human Genetics 87 (4), 465-479, 2010
|Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness|
XZ Liu, XJ Xia, J Adams, ZY Chen, KO Welch, M Tekin, XM Ouyang, ...
Human molecular genetics 10 (25), 2945-2951, 2001
|MLL2 and KDM6A mutations in patients with Kabuki syndrome|
N Miyake, E Koshimizu, N Okamoto, S Mizuno, T Ogata, T Nagai, T Kosho, ...
American journal of medical genetics Part A 161 (9), 2234-2243, 2013
|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
|Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise|
D Yan, Y Zhu, T Walsh, D Xie, H Yuan, A Sirmaci, T Fujikawa, ACY Wong, ...
Proceedings of the National Academy of Sciences 110 (6), 2228-2233, 2013
|Autosomal recessive nonsyndromic deafness genes: a review|
D Duman, M Tekin
Frontiers in bioscience: a journal and virtual library 17, 2213, 2012
|Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival|
V Hucthagowder, E Morava, U Kornak, DJ Lefeber, B Fischer, ...
Human molecular genetics 18 (12), 2149-2165, 2009
|Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia|
M Tekin, BÖ Hişmi, S Fitoz, H Özdağ, FB Cengiz, A Sırmacı, İ Aslan, ...
The American Journal of Human Genetics 80 (2), 338-344, 2007