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 | 165 | 2016 |
Genetic background of supernumerary teeth A Subasioglu, S Savas, E Kucukyilmaz, S Kesim, A Yagci, M Dundar European journal of dentistry 9 (01), 153-158, 2015 | 148 | 2015 |
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 | 96 | 2011 |
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 | 79 | 2014 |
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency T Fasano, P Zanoni, C Rabacchi, L Pisciotta, E Favari, MP Adorni, ... Molecular genetics and metabolism 107 (3), 534-541, 2012 | 36 | 2012 |
A glutamine repeat variant of the RUNX2 gene causes cleidocranial dysplasia M Mastushita, H Kitoh, A Subasioglu, F Kurt Colak, M Dundar, K Mishima, ... Molecular Syndromology 6 (1), 50-53, 2015 | 24 | 2015 |
Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations G Bademci, AO Lasisi, KO Yariz, P Montenegro, I Menendez, R Vinueza, ... BMC medical genetics 16, 1-5, 2015 | 19 | 2015 |
A Novel COL4A3 Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family AS Uzak, B Tokgoz, M Dundar, M Tekin Genetic testing and molecular biomarkers 17 (3), 260-264, 2013 | 19 | 2013 |
Healthcare in overview of Turkey M Dundar, AS Uzak, Y Karabulut EPMA Journal 1, 587-594, 2010 | 19 | 2010 |
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss C Li, G Bademci, A Subasioglu, O Diaz-Horta, Y Zhu, J Liu, TG Mitchell, ... Proceedings of the National Academy of Sciences 116 (4), 1347-1352, 2019 | 18 | 2019 |
ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families A Subasioglu Uzak, N Cakar, E Comak, F Yalcinkaya, M Tekin Renal failure 35 (9), 1281-1284, 2013 | 17 | 2013 |
Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases M Dundar, AS Uzak, M Erdogan, Y Akbarova EPMA journal 2, 181-195, 2011 | 16 | 2011 |
Research of genetic bases of hereditary non-syndromic hearing loss A Subaşıoğlu, D Duman, A Sırmacı, G Bademci, F Carkıt, MA Somdaş, ... Turkish Archives of Pediatrics/Türk Pediatri Arşivi 52 (3), 122, 2017 | 15 | 2017 |
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium M Dundar, U Fahrioglu, SH Yildiz, B Bakir-Gungor, SG Temel, H Akin, ... Functional & integrative genomics 22 (3), 291-315, 2022 | 14 | 2022 |
A novel homozygous GALC mutation: Very early onset and rapidly progressive Krabbe disease F Kardas, AS Uzak, MA Hossain, N Sakai, M Canpolat, A Yıkılmaz Gene 517 (1), 125-127, 2013 | 13 | 2013 |
Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis K Ozyurt, A Subasioglu, P Ozturk, R Inci, F Ozkan, E Bueno, J Cañueto, ... Indian Journal of Dermatology 60 (2), 216, 2015 | 11 | 2015 |
Radixin modulates the function of outer hair cell stereocilia S Prasad, B Vona, M Diñeiro, M Costales, R González-Aguado, ... Communications biology 3 (1), 792, 2020 | 10 | 2020 |
Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome AS Uzak, JP Fryns, M Dundar Genetic counseling (Geneva, Switzerland) 25 (2), 159-69, 2014 | 8 | 2014 |
The effect of the additional cytogenetic abnormalities on major molecular response and BCR-ABL kinase domain mutations in long-term follow-up chronic myeloid leukemia patients … K Savasoglu, KB Payzin, F Ozdemirkiran, A Subasioglu, AF Yilmaz Leukemia & Lymphoma 58 (8), 1958-1962, 2017 | 7 | 2017 |
Severe spontaneous ovarian hyperstimulation syndrome with cervical insufficiency: a case report E Demirel, U Turhan, E Ekmekci, A Subasioglu, S Kelekci JFIV Reprod Med Genet 4, 181, 2016 | 4 | 2016 |