| Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction N Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang, RO Rosti, E Dikoglu, ... Nature genetics 47 (5), 528-534, 2015 | 141 | 2015 |
| The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome PJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ... Genetics in Medicine 21 (6), 1295-1307, 2019 | 122 | 2019 |
| A texture based matching approach for automated assembly of puzzles MS Sagiroglu, A Erçil 18th International Conference on Pattern Recognition (ICPR'06) 3, 1036-1041, 2006 | 106 | 2006 |
| Privacy preserving processing of genomic data: A survey M Akgün, AO Bayrak, B Ozer, MŞ Sağıroğlu Journal of biomedical informatics 56, 103-111, 2015 | 99 | 2015 |
| Mutation in MEOX1gene causes a recessive Klippel-Feil syndrome subtype F Bayrakli, B Guclu, C Yakicier, H Balaban, U Kartal, B Erguner, ... BMC genetics 14, 1-7, 2013 | 80 | 2013 |
| HomSI: a homozygous stretch identifier from next-generation sequencing data Z Görmez, B Bakir-Gungor, MŞ Sağıroğlu Bioinformatics 30 (3), 445-447, 2014 | 54 | 2014 |
| Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair GM Dal, B Ergüner, MS Sağıroğlu, B Yüksel, OE Onat, C Alkan, T Özçelik Journal of medical genetics 51 (7), 455-459, 2014 | 53 | 2014 |
| Design and characterisation of a thin-film electrode array with shared reference/counter electrodes for electrochemical detection Y Uludag, Z Olcer, MS Sagiroglu Biosensors and Bioelectronics 57, 85-90, 2014 | 39 | 2014 |
| A texture based approach to reconstruction of archaeological finds MŞ Sağıroğlu, A Erçil Eurographics, 2005 | 36 | 2005 |
| 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 | 33 | 2014 |
| A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation A Dursun, D Yalnizoglu, OF Gerdan, D Yucel-Yilmaz, MS Sagiroglu, ... Clinical dysmorphology 26 (1), 1-12, 2017 | 32 | 2017 |
| Generating a detailed protein profile of Fasciola hepatica during the chronic stage of infection in cattle O Haçarız, AT Baykal, M Akgün, P Kavak, MŞ Sağıroğlu, GP Sayers Proteomics 14 (12), 1519-1530, 2014 | 32 | 2014 |
| Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis A Koparir, OF Karatas, B Yuceturk, B Yuksel, AO Bayrak, OF Gerdan, ... Human Molecular Genetics 24 (19), 5378-5387, 2015 | 31 | 2015 |
| 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 |
| Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene F Bayrakli, HG Poyrazoglu, S Yuksel, C Yakicier, B Erguner, MS Sagiroglu, ... Journal of human genetics 60 (12), 763-768, 2015 | 27 | 2015 |
| Comparative transcriptome profiling approach to glean virulence and immunomodulation-related genes of Fasciola hepatica O Haçarız, M Akgün, P Kavak, B Yüksel, MŞ Sağıroğlu BMC genomics 16, 1-22, 2015 | 27 | 2015 |
| A patient with mitochondrial disorder due to a novel mutation in MRPS22 M Kılıç, KK Oğuz, E Kılıç, D Yüksel, H Demirci, MŞ Sağıroğlu, ... Metabolic Brain Disease 32, 1389-1393, 2017 | 21 | 2017 |
| Performance comparison of Next Generation sequencing platforms B Ergüner, D Üstek, MŞ Sağıroğlu 2015 37th Annual International Conference of the IEEE Engineering in …, 2015 | 21 | 2015 |
| Coffin-Siris syndrome with cafe-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene FM Sonmez, E Uctepe, M Gunduz, Z Gormez, S Erpolat, M Oznur, ... Intractable & Rare Diseases Research 5 (3), 222-226, 2016 | 18 | 2016 |
| A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family FN Tuncer, Z Gormez, M Calik, GA Uzun, MS Sagiroglu, B Yuceturk, ... Epilepsy research 113, 5-10, 2015 | 14 | 2015 |
