| 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 | 270 | 2011 |
| 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 | 118 | 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 | 95 | 2007 |
| 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 | 28 | 2017 |
| 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 | 23 | 2014 |
| RIPK4 suppresses the TGF‐β1 signaling pathway in HaCaT cells T Dinçer, AB Boz Er, İ Er, B Toraman, G Yildiz, E Kalay Cell Biology International 44 (3), 848-860, 2020 | 10 | 2020 |
| Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation B Toraman, A Ökten, E Kalay, G Karagüzel, T Dinçer, EG Açıkgöz, ... Gene 513 (1), 202-208, 2013 | 9 | 2013 |
| Investigation of plasmid mediated mcr colistin resistance gene in clinical Enterobacterales isolates E Özkaya, CK Buruk, I Tosun, B Toraman, N Kaklıkkaya, F Aydın Mikrobiyoloji Bulteni 54 (2), 191-202, 2020 | 6 | 2020 |
| Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations B Toraman, SÇ Bilginer, ST Hesapçıoğlu, Z Göker, HO Soykam, ... The Journal of Gene Medicine 23 (4), e3322, 2021 | 5 | 2021 |
| A novel homozygous RIPK4 variant in a family with severe Bartsocas‐Papas syndrome T Dinçer, E Gümüş, B Toraman, İ Er, G Yildiz, Z Yüksel, E Kalay American Journal of Medical Genetics Part A 185 (6), 1691-1699, 2021 | 2 | 2021 |
| HLA-E* 0101/0103X is associated with susceptibility to pemphigus vulgaris: a case-control study E Altun, S Yayli, B Toraman, D Aksu Arica, E Kalay, L Baykal Selçuk, ... Acta Dermatovenerologica Croatica 25 (3), 189-189, 2017 | 2 | 2017 |
| Genetically determined plasma trefoil factor-3 levels are causally associated with the risk of ulcerative colitis: a Mendelian randomization study B Toraman, S Fidan, G YILDIZ The European Research Journal, 1-9, 2024 | | 2024 |
| Two male patients from an extended seven generation Turkish family diagnosed with Renpenning syndrome: identifying the causative mutation and review of the literature B Toraman, T Dinçer, G Budak, C Bilginer, H Kayserili, E Kalay The European Research Journal, 2022 | | 2022 |
| Is the MTHFR C677T variant a genetic risk factor in the etiology of autism spectrum disorder? Is it alone or by combined with rare variants of the PHGDH gene? BK Kasap, C Bilginer, G Yildiz, B Toraman Annals of Medical of Research 29 (4), 2022 | | 2022 |
| A rare cause of hypophosphatemic rickets; Non-lethal Raine syndrome G KARAGÜZEL, B Toraman, T Dincer, S Kayipmaz HORMONE RESEARCH IN PAEDIATRICS 94 (SUPPL 1), 216-216, 2021 | | 2021 |
| A Novel Founder Mutation of CYP21A2 in Patients with CAH due to 21-Hydroxylase Deficiency A Okten, G Karaguzel, B Toraman, E Kalay, T Dincer European Society for Paediatric Endocrinology, 2014 | | 2014 |
| THE INVESTIGATION OF KNOWNCYP21A2GENE MUTATIONS IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA (CAH) CAUSED BY 21-HYDROXYLASE DEFICIENCY IN THE BLACK-SEA REGION OF TURKEY: M18 B Toraman, A Ökten, E Kalay, G Karagüzel, E Açikgöz, A Karagüzel Clinical Genetics 78, 2010 | | 2010 |
| A novel splicing site mutation of PLK4 that is required for centriole biogenesis and genomic stability causes Seckel syndrome T DİNÇER, G BUDAK, C SEMERCİ, A ÖLMEZ, Y DODURGA, M ÖZMERT, ... | | |
| Kalıtsal nonsendromik yarık dudak/damak hastalığında genetik etiyolojinin araştırılması B TORAMAN, M LİVAOĞLU, T DİNÇER, G BUDAK, İ NALKIRAN, ... | | |
