| Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin Y Bayram, E Karaca, ZC Akdemir, EO Yilmaz, GA Tayfun, H Aydin, ... The Journal of clinical investigation 126 (2), 762-778, 2016 | 105 | 2016 |
| Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome T Atik, A Koparir, G Bademci, J Foster, U Altunoglu, GY Mutlu, S Bowdin, ... Orphanet journal of rare diseases 10, 1-10, 2015 | 55 | 2015 |
| Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? WL Wooderchak-Donahue, G Akay, K Whitehead, E Briggs, ... Genetics in Medicine 21 (9), 2007-2014, 2019 | 53 | 2019 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 47 | 2022 |
| 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 | 46 | 2021 |
| Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals K Saida, R Maroofian, T Sengoku, T Mitani, AT Pagnamenta, D Marafi, ... Genetics in Medicine 25 (1), 90-102, 2023 | 17 | 2023 |
| Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia WL Wooderchak-Donahue, J McDonald, A Farrell, G Akay, M Velinder, ... Journal of Medical Genetics 55 (12), 824-830, 2018 | 13 | 2018 |
| Recessive MYF5 mutations cause external ophthalmoplegia, rib, and vertebral anomalies SA Di Gioia, S Shaaban, B Tüysüz, NH Elcioglu, WM Chan, CD Robson, ... The American Journal of Human Genetics 103 (1), 115-124, 2018 | 13 | 2018 |
| Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract J Münch, M Engesser, R Schönauer, JA Hamm, C Hartig, E Hantmann, ... Kidney international 101 (5), 1039-1053, 2022 | 10 | 2022 |
| Developmental genomics of limb malformations: allelic series in association with gene dosage effects contribute to the clinical variability R Duan, H Hijazi, EY Gulec, HK Eker, SR Costa, Y Sahin, Z Ocak, S Isikay, ... Human Genetics and Genomics Advances 3 (4), 2022 | 8 | 2022 |
| Risk of sudden cardiac death in EXOSC5‐related disease DG Calame, I Herman, JM Fatih, H Du, G Akay, SN Jhangiani, ... American Journal of Medical Genetics Part A 185 (8), 2532-2540, 2021 | 6 | 2021 |
| Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms Y Huang, M Ma, X Mao, D Pehlivan, O Kanca, F Un-Candan, L Shu, ... Human Molecular Genetics 31 (16), 2751-2765, 2022 | 5 | 2022 |
| Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family E Taşdelen, DG Calame, G Akay, T Mitani, JM Fatih, I Herman, H Du, ... American Journal of Medical Genetics Part A 188 (7), 2153-2161, 2022 | 4 | 2022 |
| A case of Sotos syndrome caused by a novel variant in the NSD1 gene: A proposed rationale to treat accompanying precocious puberty B Özcabi, G Akay, G Yesil, EU Yalcin, H Kirmizibekmez Acta Endocrinologica (Bucharest) 16 (2), 245, 2020 | 3 | 2020 |
| P317: Phenotypic variability among three family members with RAD21 Cornelia de Lange syndrome S Cole, B Shayota, V Taliercio, B Stebbins, G Akay, N Longo Genetics in Medicine Open 2, 2024 | | 2024 |
| P166: MEK inhibitor therapy for lymphatic malformations: A focused approach in patients with RASopathies V Taliercio, P Selvam, G Akay, S Cole, J Flores-Daboub, D Viskochil Genetics in Medicine Open 2, 2024 | | 2024 |
| A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly M Dawood, G Akay, T Mitani, D Marafi, JM Fatih, A Gezdirici, H Najmabadi, ... American Journal of Medical Genetics Part A 191 (3), 794-804, 2023 | | 2023 |
| JUVENILE XANTHOGRAMULOMAS IN NF1: SHOULD WE WORRY? V Taliercio, G Akay, C Hagedorn, D Viskochil JOURNAL OF INVESTIGATIVE MEDICINE 71 (1), NP622-NP622, 2023 | | 2023 |
| QRICH1-RELATED DISORDER: PHENOTYPE EXPANSION VERSUS BLENDED PHENOTYPE G Akay, V Taliercio, J Palumbos, D Viskochil JOURNAL OF INVESTIGATIVE MEDICINE 71 (1), NP364-NP364, 2023 | | 2023 |
| P096: QRICH1-related disorder: Phenotype expansion vs blended phenotype G Akay, V Taliercio, J Palumbos, D Viskochil Genetics in Medicine Open 1 (1), 2023 | | 2023 |
