| KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes A Putoux, S Thomas, KLM Coene, EE Davis, Y Alanay, G Ogur, E Uz, ... Nature genetics 43 (6), 601-606, 2011 | 252 | 2011 |
| Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia E Uz, Y Alanay, D Aktas, I Vargel, S Gucer, G Tuncbilek, F von Eggeling, ... The American Journal of Human Genetics 86 (5), 789-796, 2010 | 161 | 2010 |
| ALX4 dysfunction disrupts craniofacial and epidermal development H Kayserili, E Uz, C Niessen, I Vargel, Y Alanay, G Tuncbilek, G Yigit, ... Human molecular genetics 18 (22), 4357-4366, 2009 | 139 | 2009 |
| Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity T Ozcelik, E Uz, CB Akyerli, S Bagislar, CA Mustafa, A Gursoy, N Akarsu, ... European Journal of Human Genetics 14 (6), 791-797, 2006 | 127 | 2006 |
| Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans T Ozcelik, N Akarsu, E Uz, S Caglayan, S Gulsuner, OE Onat, M Tan, ... Proceedings of the National Academy of Sciences 105 (11), 4232-4236, 2008 | 123 | 2008 |
| Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases G Chabchoub, E Uz, A Maalej, CA Mustafa, A Rebai, M Mnif, Z Bahloul, ... Arthritis research & therapy 11, 1-8, 2009 | 116 | 2009 |
| STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: a novel mutation SO Halacli, DC Ayvaz, C Sun-Tan, B Erman, E Uz, DY Yilmaz, K Ozgul, ... Clinical Immunology 161 (2), 316-323, 2015 | 88 | 2015 |
| Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1 C Bonnard, AC Strobl, M Shboul, H Lee, B Merriman, SF Nelson, ... Nature genetics 44 (6), 709-713, 2012 | 86 | 2012 |
| Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon‐like craniosynostosis K Keupp, Y Li, I Vargel, A Hoischen, R Richardson, K Neveling, Y Alanay, ... Molecular genetics & genomic medicine 1 (4), 223-237, 2013 | 79 | 2013 |
| Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses V Plagnol, E Uz, C Wallace, H Stevens, D Clayton, T Ozcelik, JA Todd PLoS One 3 (8), e2966, 2008 | 71 | 2008 |
| Skewed X-chromosome inactivation in scleroderma E Uz, LS Loubiere, VK Gadi, Z Ozbalkan, J Stewart, JL Nelson, T Ozcelik Clinical reviews in allergy & immunology 34, 352-355, 2008 | 55 | 2008 |
| Skewed X inactivation in an X linked nystagmus family resulted from a novel, p. R229G, missense mutation in the FRMD7 gene Y Kaplan, I Vargel, T Kansu, B Akin, E Rohmann, S Kamaci, E Uz, ... British Journal of Ophthalmology 92 (1), 135-141, 2008 | 37 | 2008 |
| TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia Y Alanay, B Ergüner, E Utine, O Haçarız, POS Kiper, EZ Taşkıran, ... American Journal of Medical Genetics Part A 164 (2), 291-304, 2014 | 31 | 2014 |
| Loss-of-function mutations in ELMO2 cause intraosseous vascular malformation by impeding RAC1 signaling A Cetinkaya, JR Xiong, İ Vargel, K Kösemehmetoğlu, Hİ Canter, ... The American Journal of Human Genetics 99 (2), 299-317, 2016 | 28 | 2016 |
| Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis E Uz, C Mustafa, R Topaloglu, Y Bilginer, A Dursun, O Kasapcopur, ... Arthritis & Rheumatism: Official Journal of the American College of …, 2009 | 27 | 2009 |
| DNA fingerprinting of Cannabis sativa L. accessions using RAPD and AFLP markers EE Hakki, E Uz, A Sag, S Atasoy, M Akkaya | 18 | 2003 |
| Agranulocytosis related to clozapine in monozygotic twins and association with allelic variants of multidrug resistance gene MDR1 AEA Yagcoglu, BÇ Ilhan, MT Göktas, MO Babaoglu, E Uz, MK Yazc Journal of clinical psychopharmacology 31 (2), 247-249, 2011 | 16 | 2011 |
| Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion T Ozcelik, N Akarsu, E Uz, S Caglayan, S Gulsuner, OE Onat, M Tan, ... Proceedings of the National Academy of Sciences 105 (23), E32-E33, 2008 | 10 | 2008 |
| Extremely skewed X-chromosome inactivation is increased in pre-eclampsia E Uz, I Dolen, AR Al, T Ozcelik Human genetics 121, 101-105, 2007 | 9 | 2007 |
| Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers D Pirim, N Kaya, EU Yıldırım, SO Sag, SG Temel International Journal of Biological Macromolecules 162, 1166-1177, 2020 | 8 | 2020 |
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