| Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis A Corut, A Senyigit, SA Ugur, S Altin, U Ozcelik, H Calisir, Z Yildirim, ... The American Journal of Human Genetics 79 (4), 650-656, 2006 | 315 | 2006 |
| Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16. 1, 2q22. 3 and 17q21. 32 Epicure Consortium, EMINet Consortium, M Steffens, C Leu, AK Ruppert, ... Human molecular genetics 21 (24), 5359-5372, 2012 | 153 | 2012 |
| Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation SA Ugur, A Tolun Human Molecular Genetics 17 (17), 2644-2653, 2008 | 99 | 2008 |
| Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies SU Iseri, RJ Osborne, M Farrall, AW Wyatt, G Mirza, G Nürnberg, C Kluck, ... Human mutation 30 (10), 1378-1386, 2009 | 97 | 2009 |
| Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy RS Møller, YG Weber, LL Klitten, H Trucks, H Muhle, WS Kunz, ... Epilepsia 54 (2), 256-264, 2013 | 74 | 2013 |
| Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24. 3–q25. 1 U Dursun, C Koroglu, E Kocasoy Orhan, SA Ugur, A Tolun Neurogenetics 10, 325-331, 2009 | 68 | 2009 |
| A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures Y Yıldırım, E Kocasoy Orhan, SA Ugur Iseri, P Serdaroglu-Oflazer, B Kara, ... Human molecular genetics 20 (10), 1886-1892, 2011 | 66 | 2011 |
| Is the novel SCKL3 at 14q23 the predominant Seckel locus? MO Kılınc, VN Ninis, SA Uǧur, B Tüysüz, M Seven, S Balcı, J Goodship, ... European journal of human genetics 11 (11), 851-857, 2003 | 64 | 2003 |
| Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31. 3 for genetic generalized epilepsies Epicure Consortium, C Leu, CGF de Kovel, F Zara, P Striano, M Pezzella, ... Epilepsia 53 (2), 308-318, 2012 | 47 | 2012 |
| Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant … SU Iseri, AW Wyatt, G Nürnberg, C Kluck, P Nürnberg, GE Holder, E Blair, ... Human genetics 128, 51-60, 2010 | 39 | 2010 |
| Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies P Bakrania, SA Ugur Iseri, AW Wyatt, DJ Bunyan, WWK Lam, A Salt, ... American Journal of Medical Genetics Part A 152 (5), 1310-1313, 2010 | 36 | 2010 |
| Third-line treatment with second-generation tyrosine kinase inhibitors (dasatinib or nilotinib) in patients with chronic myeloid leukemia after two prior TKIs: real-life data … S Ongoren, AE Eskazan, V Suzan, S Savci, I Erdogan Ozunal, S Berk, ... Hematology 23 (4), 212-220, 2018 | 35 | 2018 |
| Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22. 2–p21. 32 S Önengüt, SA Uǧur, H Karasoy, N Yüceyar, A Tolun Neuromuscular Disorders 14 (1), 4-9, 2004 | 34 | 2004 |
| Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13. 3 N Duru, SAU Iseri, N Selç, A Tolun Journal of neurogenetics 24 (4), 207-215, 2010 | 27 | 2010 |
| A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis SA Ugur Iseri, YK Durlu, A Tolun European journal of human genetics 18 (10), 1121-1126, 2010 | 23 | 2010 |
| A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract SA Ugur, A Tolun European journal of human genetics 16 (2), 261-264, 2008 | 21 | 2008 |
| Clinical and genetic features of PKAN patients in a tertiary centre in Turkey NH Akcakaya, SU Iseri, B Bilir, E Battaloglu, P Tekturk, M Gultekin, G Akar, ... Clinical Neurology and Neurosurgery 154, 34-42, 2017 | 19 | 2017 |
| Identifying SNP targeted pathways in partial epilepsies with genome-wide association study data B Bakir-Gungor, B Baykan, SU İseri, FN Tuncer, OU Sezerman Epilepsy research 105 (1-2), 92-102, 2013 | 19 | 2013 |
| Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family FM Sonmez, F Celep, SA Ugur Journal of child neurology 21 (4), 333-337, 2006 | 18 | 2006 |
| Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability SA Ugur Iseri, E Yucesan, FN Tuncer, M Calik, Y Kesim, G Altiokka Uzun, ... Journal of Human Genetics 64 (5), 421-426, 2019 | 15 | 2019 |
