| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 264 | 2019 |
| Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ... The American Journal of Human Genetics 108 (6), 965-982, 2021 | 45 | 2021 |
| Effect of the brain-derived neurotrophic factor gene Val66Met polymorphism on sensory-motor integration during a complex motor learning exercise SŞ Deveci, Z Matur, YY Kesim, GG Senturk, GG Sargın-Kurt, SA Ugur, ... Brain Research 1732, 146652, 2020 | 23 | 2020 |
| Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases AT Pagnamenta, C Camps, E Giacopuzzi, JM Taylor, M Hashim, ... Genome medicine 15 (1), 94, 2023 | 19 | 2023 |
| 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 |
| Distinct gene-set burden patterns underlie common generalized and focal epilepsies M Koko, R Krause, T Sander, DR Bobbili, M Nothnagel, P May, H Lerche, ... EBioMedicine 72, 2021 | 13 | 2021 |
| Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation YF Kesim, GA Uzun, E Yucesan, FN Tuncer, O Ozdemir, N Bebek, ... Epilepsy Research 120, 73-78, 2016 | 11 | 2016 |
| Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations R Stevelink, JJ Luykx, BD Lin, C Leu, D Lal, AW Smith, D Schijven, ... Epilepsia 62 (7), 1518-1527, 2021 | 8 | 2021 |
| Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia Y Kesim, F Ceroni, A Damián, F Blanco-Kelly, C Ayuso, K Williamson, ... European Journal of Human Genetics 31 (10), 1175-1180, 2023 | 3 | 2023 |
| The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey G Haryanyan, O Ozdemir, K Tutkavul, A Dervent, S Ayta, C Ozkara, ... Journal of human genetics 66 (12), 1145-1151, 2021 | 2 | 2021 |
| Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia Y Kesim, F Ceroni, A Damián, F Blanco-Kelly, C Ayuso, K Williamson, ... European Journal of Human Genetics 31 (10), 1196, 2023 | 1 | 2023 |
| Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder S Susgun, Y Kesim, D Khalilov, NG Sirin, H Gezegen, B Salman, ... Neurological Sciences 44 (7), 2527-2540, 2023 | 1 | 2023 |
| Screening SLC2A1 gene for sequence and copy number variations associated with GLUT-1 deficiency syndrome CÖ Ergüzeloğlu, B Kara, I Karacan, Ö Özdemir, Y Kesim, N Bebek, ... Journal of Istanbul Faculty of Medicine 83 (3), 177-183, 2020 | 1 | 2020 |
| Susceptibility to juvenile myoclonic epilepsy associated with the EFHC1 gene: first case report in Turkey PB Şirinocak, B Salman, FY Kesim, N Bebek, B Baykan, SAU İşeri Turkish Journal of Neurology 25 (4), 233-236, 2019 | 1 | 2019 |
| Tüm Genom SNP Genotipleme ile Trizomi 21 ve Ebeveyn Etkisinin Tespiti FY Kesim, FN Tuncer, E Yücesan, Ö Özdemir, M Çalık, U Özbek, SA Uğur Deneysel Tıp Araştırma Enstitüsü Dergisi 4 (7), 22-27, 2014 | 1 | 2014 |
| Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development F Ceroni, MB Cicekdal, R Holt, E Sorokina, N Chassaing, S Clokie, ... Nature Communications 15 (1), 9245, 2024 | | 2024 |
| Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes Nature neuroscience 27 (10), 1864-1879, 2024 | | 2024 |
| Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder. D Khalilov, NG Sirin, H Gezegen, B Salman, E Yucesan, GF Gokcay, ... | | 2023 |
| Two candidate genes with biallelic variants associated with a neurodevelopmental disorder in a consanguineous family from Turkey S Süsgün, Y Kesim, B Salman, E Yücesan, D Khalilov, NG Şirin İnan, ... | | 2022 |
| DİRENÇLİ NÖBETLER VE KOGNİTİF YIKIM İLE SEYREDEN NADİR BİR METABOLİK-GENETİK NEDEN: SEREBRAL FOLİNİK ASİT EKSİKLİĞİ H Gezegen, S Süsgün, Y Kesim, B Salman, E Yücesan, D Khalilov, ... | | 2022 |
