| LRP4 mutations alter Wnt/β-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome Y Li, B Pawlik, N Elcioglu, M Aglan, H Kayserili, G Yigit, F Percin, ... The American Journal of Human Genetics 86 (5), 696-706, 2010 | 180 | 2010 |
| Natural history of congenital generalized lipodystrophy: a nationwide study from Turkey B Akinci, H Onay, T Demir, S Ozen, H Kayserili, G Akinci, B Nur, B Tuysuz, ... The Journal of Clinical Endocrinology & Metabolism 101 (7), 2759-2767, 2016 | 86 | 2016 |
| Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome RO Rosti, BN Sotak, SL Bielas, G Bhat, JL Silhavy, AD Aslanger, ... Journal of medical genetics 54 (6), 399-403, 2017 | 76 | 2017 |
| Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas E Bal, HS Park, Z Belaid-Choucair, H Kayserili, M Naville, M Madrange, ... Nature medicine 23 (10), 1226-1233, 2017 | 72 | 2017 |
| Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly L Wang, Z Li, D Sievert, DEC Smith, MI Mendes, DY Chen, V Stanley, ... Nature Communications 11 (1), 4038, 2020 | 55 | 2020 |
| Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases T Furuichi, H Kayserili, S Hiraoka, G Nishimura, H Ohashi, Y Alanay, ... Journal of medical genetics 46 (8), 562-568, 2009 | 53 | 2009 |
| De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 41 | 2020 |
| Should patients with Down syndrome be screened for testicular microlithiasis? AN Cebeci, A Aslanger, M Ozdemir European Journal of Pediatric Surgery 3 (02), 177-180, 2015 | 19 | 2015 |
| Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2 AD Aslanger, U Altunoglu, E Aslanger, BN Satkın, ZO Uyguner, ... American journal of medical genetics Part A 164 (2), 484-489, 2014 | 15 | 2014 |
| Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability AD Aslanger, B Goncu, OF Duzenli, E Yucesan, E Sengenc, G Yesil Journal of Human Genetics 67 (5), 279-284, 2022 | 13 | 2022 |
| Febrile seizures in children with familial Mediterranean fever: Coincidence or association? E Çomak, Ö Tüfekçi, F Kılıçbay, E Isıyel, AH Sever, A Aslanger, B Ekici European journal of paediatric neurology 19 (5), 572-576, 2015 | 13 | 2015 |
| KCNJ10 gene mutation in an 8-year-old boy with seizures B Kara, B Ekici, B İpekçi, AK Aslanger, U Scholl Acta Neurologica Belgica 113, 75-77, 2013 | 11 | 2013 |
| Expanding clinical phenotype of TRAPPC12-related childhood encephalopathy: two cases and review of literature AD Aslanger, E Demiral, S Sonmez-Sahin, S Guler, B Goncu, E Yucesan, ... Neuropediatrics 51 (06), 430-434, 2020 | 6 | 2020 |
| A Rare Cause of Adrenal Insufficiency – Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature AD Kardelen Al, Ş Poyrazoğlu, A Aslanger, G Yeşil, S Ceylaner, F Baş, ... Hormone research in paediatrics 92 (6), 395-403, 2020 | 6 | 2020 |
| A novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy I Eren, O Birsel, ÖÖ Çakmak, A Aslanger, YG Özdemir, S Eraslan, ... Orthopaedics & Traumatology: Surgery & Research 106 (4), 701-707, 2020 | 6 | 2020 |
| First Observation of Hb South Florida [beta 1 (NA1) Val> Met] in Turkey AD Aslanger, A Akbulut, G Tokgöz, S Türkmen, K Yararbaş Turkish Journal of Hematology 30 (2), 223, 2013 | 4 | 2013 |
| Prenatal tanıda genetik danışmanın temel prensipleri AD ASLANGER, HK KARABEY Turkiye Klinikleri Gynecology Obstetrics-Special Topics 10 (1), 6-12, 2017 | 3 | 2017 |
| Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly L Wang, Z Li, D Sievert, DEC Smith, MI Mendes, DY Chen, V Stanley, ... Nature communications 12 (1), 1192, 2021 | 2 | 2021 |
| Smith-Lemli-Opitz Sendromlu olguda uE3 düşüklüğünün tanıdaki yeri AD ASLANGER, D Açarsöz, H KAYSERİLİ Journal of Clinical Obstetrics & Gynecology 18 (6), 395-399, 2008 | 2 | 2008 |
| A novel RNPC3 gene variant expands the phenotype in patients with congenital hypopituitarism and neuropathy Z Yavas Abali, E Gokpinar Ili, F Bas, M Ulak Ozkan, Ç Gulec, G Toksoy, ... Hormone Research in Paediatrics 97 (2), 157-164, 2024 | 1 | 2024 |
