| TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. RJF Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter ... J Cell Biol 209 (1), 129-142, 2015 | 120 | 2015 |
| Identification of cis-suppression of human disease mutations by comparative genomics DM Jordan, SG Frangakis, C Golzio, CA Cassa, J Kurtzberg, ... Nature 524 (7564), 225-229, 2015 | 115 | 2015 |
| The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey A Ozantürk, JD Marshall, GB Collin, S Düzenli, RP Marshall, Ş Candan, ... Journal of human genetics 60 (1), 1-9, 2015 | 60 | 2015 |
| Novel Alu retrotransposon insertion leading to Alström syndrome M Taşkesen, BG Collin, AV Evsikov, ... Human Genetics 83 (1), 96-8, 2012 | 39 | 2012 |
| Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy M Kousi, O Söylemez, A Ozanturk, N Mourtzi, S Akle, I Jungreis, J Muller, ... Nature genetics 52 (11), 1145-1150, 2020 | 38 | 2020 |
| Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations H Dündar, RK Özgül, A Güzel-Ozantürk, A Dursun, S Sivri, ... Molecular genetics and metabolism 106 (4), 419-423, 2012 | 31 | 2012 |
| Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder SGM Frints, A Ozanturk, G Rodriguez Criado, U Grasshoff, B De Hoon, ... Molecular psychiatry 24 (11), 1748-1768, 2019 | 30 | 2019 |
| Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease A Dursun, RK Özgül, S Sivri, A Tokatlı, A Güzel, L Mesci, M Kılıç, ... Case and Research Reports, 2011/1 1, 17-21, 2011 | 26 | 2011 |
| Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance A Güzel-Ozantürk, RK Özgül, Ö Ünal, B Hişmi, Hİ Aydın, S Sivri, A Tokatlı, ... Gene 521 (2), 293-295, 2013 | 17 | 2013 |
| Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome S Taşdemir, A Güzel-Ozantürk, JD Marshall, GB Collin, RK Özgül, N Narin, ... Clinical genetics 83 (1), 96, 2012 | 17 | 2012 |
| Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations RK Özgül, A Güzel-Ozantürk, H Dündar, D Yücel-Yılmaz, T Coşkun, ... Journal of human genetics 58 (10), 675-678, 2013 | 14 | 2013 |
| Combined occurrence of Alström syndrome and bronchiectasis A Kaya, Z Orbak, A Çayır, H Döneray, Ş Taşdemir, A Ozantürk, F Bingöl Pediatrics 133 (3), e780-e783, 2014 | 13 | 2014 |
| E Hickey S, Kammoun M, Gripp KW, et al (2019) Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder SG Frints, A Ozanturk, G Rodrıguez Criado, U Grasshoff, B de Hoon, ... Mol Psychiatry 24, 1748-1768, 0 | 6 | |
| Participant-partners in genetic research: an exome study with families of children with unexplained medical conditions SH Katsanis, MA Minear, A Sadeghpour, H Cope, Y Perilla, ... Journal of Participatory Medicine 10 (1), e8958, 2018 | 3 | 2018 |
| A t (5; 16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay A Ozantürk, EE Davis, A Sabo, MM Weiss, D Muzny, S Dugan-Perez, ... Molecular Case Studies 2 (2), a000703, 2016 | 3 | 2016 |
| Pathogenic variants in RLIM/RNF12 lead to syndromic X-linked intellectual disability and congenital, neurologic and behavior disorders SGM Frints, A Ozanturk, G Rodriguez Criado, U Grasshoff, M Field, ... European Journal Of Human Genetics 28 (SUPPL 1), 127-128, 2020 | | 2020 |
| Immunodeficiency in a Child with Alström Syndrome TR Ozdemir, NE Karaca, JD Marshall, N Kutukculer, G Aksu, RK Ozgul, ... The Indian Journal of Pediatrics 85, 924-926, 2018 | | 2018 |
| Nörogenetik hastalıklarda ekzom dizileme analizi ile aday genlerin belirlenmesi ve zebrafish modellerinin oluşturulması A Ozantürk Fen Bilimleri Enstitüsü, 2015 | | 2015 |
| Ailevi Hiperkolesterolemili Hastaların Mutasyon Analiz Sonuçlarının Simone-Broome Kriterleriyle Değerlendirilmesi HH AYKAN, RK ÖZGÜL, A Güzel, T COŞKUN, A DURSUN Türkiye Çocuk Hastalıkları Dergisi 9 (3), 176-183, 2015 | | 2015 |
| Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alstrom syndrome S Tasdemir, A Guzel-Ozanturk, J Marshall, G Collin, R ÖZGÜL, N Narin, ... Clinical genetics 83 (1), 2013 | | 2013 |
Erica E DavisLurie Children's Hospital and Northwestern UniversityE-mailová adresa ověřena na: luriechildrens.org