| CEP152 is a genome maintenance protein disrupted in Seckel syndrome E Kalay, G Yigit, Y Aslan, KE Brown, E Pohl, LS Bicknell, H Kayserili, Y Li, ... Nature genetics 43 (1), 23-26, 2011 | 272 | 2011 |
| Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35 RWJ Collin, E Kalay, M Tariq, T Peters, B van der Zwaag, H Venselaar, ... The American Journal of Human Genetics 82 (1), 125-138, 2008 | 131 | 2008 |
| Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome E Kalay, O Sezgin, V Chellappa, M Mutlu, H Morsy, H Kayserili, E Kreiger, ... The American Journal of Human Genetics 90 (1), 76-85, 2012 | 113 | 2012 |
| Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment RWJ Collin, E Kalay, J Oostrik, R Caylan, B Wollnik, S Arslan, ... Human mutation 28 (7), 718-723, 2007 | 93 | 2007 |
| Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment M Schraders, L Ruiz-Palmero, E Kalay, J Oostrik, FJ del Castillo, O Sezgin, ... The American Journal of Human Genetics 91 (5), 883-889, 2012 | 91 | 2012 |
| Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans ZM Ahmed, S Masmoudi, E Kalay, IA Belyantseva, MA Mosrati, ... Nature genetics 40 (11), 1335-1340, 2008 | 88 | 2008 |
| GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations E Kalay, R Caylan, H Kremer, APM de Brouwer, A Karaguzel Hearing research 203 (1-2), 88-93, 2005 | 75 | 2005 |
| Mutations in the lipoma HMGIC fusion partner‐like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss E Kalay, Y Li, A Uzumcu, O Uyguner, RW Collin, R Caylan, ... Human mutation 27 (7), 633-639, 2006 | 68 | 2006 |
| Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss E Kalay, A Karaguzel, R Caylan, A Heister, FPM Cremers, C Cremers, ... Human Mutation 26 (6), 591-591, 2005 | 66 | 2005 |
| Variation of CNV distribution in five different ethnic populations SJ White, L Vissers, A Geurts van Kessel, RX De Menezes, E Kalay, ... Cytogenetic and genome research 118 (1), 19-30, 2007 | 59 | 2007 |
| A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein M Wattenhofer, N Sahin-Calapoglu, D Andreasen, E Kalay, R Caylan, ... Human genetics 117, 528-535, 2005 | 56 | 2005 |
| Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay ML Weber, HY Hsin, E Kalay, DŠ Brožková, T Shimizu, M Bayram, ... BMC medical genetics 15, 1-10, 2014 | 52 | 2014 |
| A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome E Kalay, APM De Brouwer, R Caylan, SB Nabuurs, B Wollnik, ... Journal of molecular medicine 83, 1025-1032, 2005 | 51 | 2005 |
| MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation E Kalay, A Uzumcu, E Krieger, R Caylan, O Uyguner, M Ulubil‐Emiroglu, ... American Journal of Medical Genetics Part A 143 (20), 2382-2389, 2007 | 48 | 2007 |
| Effects of leptin and insulin on CA III expression in rat adipose tissue A Alver, F Uçar, EE Keha, E Kalay, E Ovali Journal of enzyme inhibition and medicinal chemistry 19 (3), 279-281, 2004 | 30 | 2004 |
| Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome T Dinçer, G Yorgancıoğlu-Budak, A Ölmez, İ Er, Y Dodurga, Ö Özdemir, ... European Journal of Human Genetics 25 (10), 1118-1125, 2017 | 27 | 2017 |
| A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2–q13.4 E Kalay, R Caylan, AF Kıroglu, T Yasar, RWJ Collin, J Heister, J Oostrik, ... Journal of Molecular Medicine 85, 397-404, 2007 | 24 | 2007 |
| Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia CN Semerci, E Kalay, C Yıldırım, T Dinçer, A Ölmez, B Toraman, ... British Journal of Ophthalmology 98 (6), 832-840, 2014 | 22 | 2014 |
| Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings S Şahin, A Cansu, E Kalay, T Dinçer, S Kul, İM Çakır, T Kamaşak, ... Journal of the Neurological Sciences 365, 54-58, 2016 | 21 | 2016 |
| Penicillin induced epileptiform activity and EEG spectrum analysis of BDNF heterozygous mice: an in vivo electrophysiological study I Abidin, M Yildirim, S Aydin-Abidin, E Kalay, A Cansu, M Akca, ... Brain research bulletin 86 (3-4), 159-164, 2011 | 18 | 2011 |
