| Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss T Atik, H Onay, A Aykut, G Bademci, T Kirazli, M Tekin, F Ozkinay PloS one 10 (11), e0142154, 2015 | 81 | 2015 |
| A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome E Pohl, A Aykut, F Beleggia, E Karaca, B Durmaz, K Keupp, E Arslan, ... Human genetics 132, 1311-1320, 2013 | 66 | 2013 |
| Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes AE Solmaz, H Onay, T Atik, A Aykut, MC Gunes, OO Yuregir, VN Bas, ... European journal of medical genetics 58 (12), 689-694, 2015 | 53 | 2015 |
| Fetal gene therapy using a single injection of recombinant AAV9 rescued SMA phenotype in mice A Rashnonejad, GA Chermahini, C Gündüz, H Onay, A Aykut, B Durmaz, ... Molecular Therapy 27 (12), 2123-2133, 2019 | 36 | 2019 |
| Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages N Kutukculer, A Aykut, NE Karaca, A Durmaz, G Aksu, F Genel, E Pariltay, ... Scandinavian journal of immunology 89 (2), e12737, 2019 | 32 | 2019 |
| Rapid prenatal diagnosis of common aneuploidies in amniotic fluid using quantitative fluorescent polymerase chain reaction H Onay, T Ugurlu, A Aykut, S Pehlivan, M Inal, S Tinar, C Ozkinay, ... Gynecologic and obstetric investigation 66 (2), 104-110, 2008 | 32 | 2008 |
| Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics A Aykut, S Özen, D Gökşen, A Ata, H Onay, T Atik, Ş Darcan, F Özkinay European journal of pediatrics 179, 1445-1452, 2020 | 29 | 2020 |
| MicroRNA expression profile in the prenatal amniotic fluid samples of pregnant women with Down syndrome E Karaca, A Aykut, B Ertürk, B Durmaz, A Güler, B Büke, AÖ Yeniel, ... Balkan medical journal 35 (2), 163-166, 2018 | 29 | 2018 |
| Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations A Aykut, E Karaca, H Onay, D Gökşen, Ş Çetinkalp, E Eren, B Ersoy, ... Gene 641, 186-189, 2018 | 26 | 2018 |
| A new cause of obesity syndrome associated with a mutation in the carboxypeptidase gene detected in three siblings with obesity, intellectual disability and hypogonadotropic … A Durmaz, A Aykut, T Atik, S Özen, DA Emecen, A Ata, E Işık, D Gökşen, ... Journal of Clinical Research in Pediatric Endocrinology 13 (1), 52, 2021 | 25 | 2021 |
| Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping E Isik, A Aykut, T Atik, O Cogulu, F Ozkinay European journal of medical genetics 62 (9), 103544, 2019 | 24 | 2019 |
| Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome S Eren Akarcan, N Edeer Karaca, G Aksu, A Aykut, D Yilmaz Karapinar, ... JMM case reports 5 (10), e005167, 2018 | 22 | 2018 |
| Prenatal evaluation of MicroRNA expressions in pregnancies with down syndrome B Erturk, E Karaca, A Aykut, B Durmaz, A Guler, B Buke, AO Yeniel, ... BioMed research international 2016 (1), 5312674, 2016 | 20 | 2016 |
| Evaluation of the miRNA profiling and effectiveness of the propolis on B-cell acute lymphoblastic leukemia cell line UC Yilmaz, BG Bagca, E Karaca, A Durmaz, B Durmaz, A Aykut, ... Biomedicine & Pharmacotherapy 84, 1266-1273, 2016 | 17 | 2016 |
| Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference N Kutukculer, E Topyildiz, A Berdeli, B Guven Bilgin, A Aykut, A Durmaz, ... Clinical case reports 9 (4), 2023-2031, 2021 | 16 | 2021 |
| Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant N Kutukculer, T Seeholzer, TJ O’Neill, C Graß, A Aykut, NE Karaca, ... The Journal of Allergy and Clinical Immunology 147 (2), 775, 2021 | 16 | 2021 |
| SURF1 related Leigh syndrome: clinical and molecular findings of 16 patients from Turkey M Kose, E Canda, M Kagnici, A Aykut, O Adebali, A Durmaz, A Bircan, ... Molecular Genetics and Metabolism Reports 25, 100657, 2020 | 16 | 2020 |
| Determination of fetal rhesus d status by maternal plasma DNA analysis A Aykut, H Onay, C Gunduz, F Ozkinay, O Cogulu, S Sagol Balkan Journal of Medical Genetics 16 (2), 33-38, 2013 | 16 | 2013 |
| Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view O Cogulu, H Onay, A Aykut, NJ Wilson, FJD Smith, T Dereli, F Ozkinay European journal of pediatrics 168, 1269-1272, 2009 | 16 | 2009 |
| The spectrum of HNF1A gene mutations in patients with MODY 3 phenotype and identification of three novel germline mutations in Turkish Population E Karaca, H Onay, S Cetinkalp, A Aykut, D Göksen, S Ozen, T Atik, ... Diabetes & Metabolic Syndrome: Clinical Research & Reviews 11, S491-S496, 2017 | 15 | 2017 |
