| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population T Mitani, S Isikay, A Gezdirici, EY Gulec, J Punetha, JM Fatih, I Herman, ... The American Journal of Human Genetics 108 (10), 1981-2005, 2021 | 58 | 2021 |
| Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes N Himmelreich, M Bertoldi, M Alfadhel, MA Alghamdi, Y Anikster, X Bao, ... Molecular Genetics and Metabolism 139 (3), 107624, 2023 | 19 | 2023 |
| Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders AC Ceylan, S Citli, HB Erdem, I Sahin, E Acar Arslan, M Erdogan Molecular cytogenetics 11, 1-9, 2018 | 19 | 2018 |
| Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium M Dundar, U Fahrioglu, SH Yildiz, B Bakir-Gungor, SG Temel, H Akin, ... Functional & integrative genomics 22 (3), 291-315, 2022 | 15 | 2022 |
| Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature AC Ceylan, EA Arslan, HB Erdem, H Kavus, M Arslan, H Topaloğlu Acta Neurologica Belgica, 1-6, 2020 | 14 | 2020 |
| SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers … AC Ceylan, HB Erdem, İ Şahin, M Agarwal Neurological Sciences 41, 2575-2584, 2020 | 13 | 2020 |
| Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate … M Scala, SB Wortmann, N Kaya, MD Stellingwerff, A Pistorio, E Glamuzina, ... Human mutation 43 (3), 403-419, 2022 | 12 | 2022 |
| Neuromuscular disease genetics in under-represented populations: increasing data diversity LA Wilson, WL Macken, LD Perry, CJ Record, KR Schon, RSS Frezatti, ... Brain 146 (12), 5098-5109, 2023 | 11 | 2023 |
| Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel EA Arslan, İ Öncel, AC Ceylan, M Topçu, H Topaloğlu Brain and development 42 (1), 6-18, 2020 | 11 | 2020 |
| Malonyl coenzyme A decarboxylase deficiency with a novel mutation CS Kasapkara, BC Ürey, AC Ceylan, ÖÜ Uzun, Iİ Çetin Cardiology in the Young 31 (9), 1535-1537, 2021 | 10 | 2021 |
| High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy B Çavdarlı, ÖY Köken, SBA Satılmış, Ş Bilen, D Ardıçlı, AC Ceylan, ... Annals of human genetics 87 (3), 104-114, 2023 | 8 | 2023 |
| An eight‐case 1q21 region series: novel aberrations and clinical variability with new features AC Ceylan, I Sahin, HB Erdem, G Kayhan, PO Simsek‐Kiper, GE Utine, ... Journal of Intellectual Disability Research 63 (6), 548-557, 2019 | 8 | 2019 |
| Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency B Yılmaz, AC Ceylan, M Gündüz, Ö Ünal Uzun, A Küçükcongar Yavaş, ... European Journal of Pediatrics 183 (3), 1341-1351, 2024 | 7 | 2024 |
| A new splice-site mutation of gene in the Netherton syndrome with different clinical features: A case report E Erden, AC Ceylan, S Emre Balkan Journal of Medical Genetics 23 (1), 91-94, 2020 | 6 | 2020 |
| Burn cases that are hospitalized in Sanlıurfa Education & Research Hospital MK Erkuran, A Ceylan, E Düzenli, F Büyükcam Abant Med J 2 (2), 123-9, 2013 | 6 | 2013 |
| Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype AC Ceylan, O Kireker Köylü, H Özyürek, E Özaydin, Mİ Yön, ... Acta Neurologica Belgica 123 (5), 1757-1761, 2023 | 5 | 2023 |
| A novel missense mutation in the UBE2A gene causes intellectual disability in the large X‐linked family SB Arslan Satılmış, EE Kurt, EP Akçay, A Sazci, AC Ceylan The Journal of Gene Medicine 23 (2), e3307, 2021 | 5 | 2021 |
| Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles AC Ceylan, H Gursoy, N Yildirim, H Basmak, N Erol, O Cilingir Ophthalmic Genetics 38 (3), 288-290, 2017 | 5 | 2017 |
| CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C ÇS Kasapkara, AC Ceylan, D Yılmaz, O Kıreker Köylü, B Yürek, ... Molecular Syndromology 14 (1), 30-34, 2023 | 4 | 2023 |
| KMT2B-Related dystonia: challenges in diagnosis and treatment A Aksoy, Ö Yayıcı Köken, AC Ceylan, Ö Toptaş Dedeoğlu Molecular Syndromology 13 (2), 159-164, 2022 | 4 | 2022 |
