| Mutations in different components of FGF signaling in LADD syndrome E Rohmann, HG Brunner, H Kayserili, O Uyguner, G Nürnberg, ED Lew, ... Nature genetics 38 (4), 414-417, 2006 | 230 | 2006 |
| Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome A Uzumcu, EE Norgett, A Dindar, O Uyguner, K Nisli, H Kayserili, ... Journal of medical genetics 43 (2), e05-e05, 2006 | 163 | 2006 |
| RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 E Szenker-Ravi, U Altunoglu, M Leushacke, C Bosso-Lefèvre, M Khatoo, ... Nature 557 (7706), 564-569, 2018 | 158 | 2018 |
| Frequencies of gap‐and tight‐junction mutations in Turkish families with autosomal‐recessive non‐syndromic hearing loss O Uyguner, M Emiroglu, A Uzumcu, G Hafiz, A Ghanbari, N Baserer, ... Clinical genetics 64 (1), 65-69, 2003 | 148 | 2003 |
| 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 |
| hKChIP2 is a functional modifier of hKv4. 3 potassium channels: cloning and expression of a short hKChIP2 splice variant N Decher, O Uyguner, CR Scherer, B Karaman, M Yüksel-Apak, ... Cardiovascular research 52 (2), 255-264, 2001 | 113 | 2001 |
| Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome B Wollnik, T Tukel, O Uyguner, A Ghanbari, H Kayserili, M Emiroglu, ... American Journal of Medical Genetics Part A 122 (1), 42-45, 2003 | 97 | 2003 |
| The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family O Uyguner, T Tukel, C Baykal, H Eris, M Emiroglu, G Hafiz, A Ghanbari, ... Clinical genetics 62 (4), 306-309, 2002 | 87 | 2002 |
| Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11 N Hilgert, F Alasti, N Dieltjens, B Pawlik, B Wollnik, O Uyguner, ... Clinical genetics 74 (3), 223-232, 2008 | 73 | 2008 |
| Mutations in CDK5RAP2 cause Seckel syndrome G Yigit, KE Brown, H Kayserili, E Pohl, A Caliebe, D Zahnleiter, E Rosser, ... Molecular genetics & genomic medicine 3 (5), 467-480, 2015 | 68 | 2015 |
| Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage? V Ulker, H Gurkan, H Tozkir, V Karaman, H Ozgur, C Numanoglu, ... European Journal of Obstetrics & Gynecology and Reproductive Biology 170 (1 …, 2013 | 68 | 2013 |
| 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 |
| CYP21A2 gene mutations in congenital adrenal Hyperplasia: genotype− phenotype correlation in Turkish children F Baş, H Kayserili, F Darendeliler, O Uyguner, H Günöz, MY Apak, ... Journal of clinical research in pediatric endocrinology 1 (3), 116, 2009 | 67 | 2009 |
| Whole-exome sequencing identifies novel variants for tooth agenesis N Dinckan, R Du, LE Petty, Z Coban-Akdemir, SN Jhangiani, I Paine, ... Journal of Dental Research 97 (1), 49-59, 2018 | 53 | 2018 |
| A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in … T Tukel, O Uyguner, JQ Wei, M Yuksel-Apak, N Saka, DX Song, ... The Journal of Clinical Endocrinology & Metabolism 88 (12), 5893-5897, 2003 | 49 | 2003 |
| 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 |
| Evidence-based consensus and systematic review on reducing the time to diagnosis of Duchenne muscular dystrophy A Aartsma-Rus, M Hegde, T Ben-Omran, F Buccella, A Ferlini, P Gallano, ... The Journal of pediatrics 204, 305-313. e14, 2019 | 45 | 2019 |
| Cleidocranial dysplasia: clinical, endocrinologic and molecular findings in 15 patients from 11 families FD Bir, N Dinçkan, Y Güven, F Baş, U Altunoğlu, SS Kuvvetli, ... European journal of medical genetics 60 (3), 163-168, 2017 | 44 | 2017 |
| Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study F Baş, ZO Uyguner, F Darendeliler, Z Aycan, E Cetinkaya, M Berberoğlu, ... Endocrine 49, 479-491, 2015 | 44 | 2015 |
| CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor U Utku, Y Celik, O Uyguner, M Yüksel‐Apak, B Wollnik European journal of neurology 9 (1), 23-28, 2002 | 41 | 2002 |
