| Posttranscriptional manipulation of TERC reverses molecular hallmarks of telomere disease B Boyraz, DH Moon, M Segal, MZ Muosieyiri, A Aykanat, AK Tai, P Cahan, ... The Journal of clinical investigation 126 (9), 3377-3382, 2016 | 64 | 2016 |
| Serum uric acid and risk for acute kidney injury following contrast: an evaluation of epidemiology, clinical trials, and potential mechanisms M Kanbay, Y Solak, B Afsar, I Nistor, G Aslan, OH Çağlayan, A Aykanat, ... Angiology 68 (2), 132-144, 2017 | 52 | 2017 |
| Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians D Pellerin, A Aykanat, B Ellezam, EC Troiano, J Karamchandani, ... Annals of neurology 87 (4), 568-583, 2020 | 18 | 2020 |
| Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy LH Hayes, M Perdomini, A Aykanat, CA Genetti, HL Paterson, BS Cowling, ... Neurology: Genetics 8 (6), e200027, 2022 | 5 | 2022 |
| A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders JR Parikh, CA Genetti, A Aykanat, CA Brownstein, K Schmitz-Abe, ... Human Genetics and Genomics Advances 2 (3), 2021 | 5 | 2021 |
| Role of whole exome sequencing in identifying rare genetic variants in a cohort of patients presenting with congenital myopathy A Aykanat, C Genetti, W Win, Z Valivullah, E O'Heir, B Darras, R Laine, ... NEUROMUSCULAR DISORDERS 30, S143-S143, 2020 | 1 | 2020 |
| MOLECULAR THERAPEUTIC APPROACHES: O. 7Correcting neuromuscular pathogenic variants with CRISPR-Cas9 technology H Best, K Woodman, A Lek, K Koczwara, E Xu, A Aykanat, Y Jiang, ... Neuromuscular Disorders 29, S39-S40, 2019 | 1 | 2019 |
| Correlating Testing for Rare Genetic Variants with a Broad Clinicopathologic Spectrum of Congenital Myopathies (N4. 003) D Jayaraman, C Genetti, A Aykanat, W Win, Z Valivullah, E O’Heir, ... Neurology 100 (17 Supplement 2), 2023 | | 2023 |
| O. 01 Correlating molecular genetic testing for rare genetic variants with a broad clinicopathologic spectrum of congenital myopathies D Jayaraman, C Genetti, A Aykanat, W Win, Z Valivullah, E O'Heir, ... Neuromuscular Disorders 32, S42, 2022 | | 2022 |
| A. 3 A novel recessive TNNT1 congenital core-rod myopathy in French Canadians D Pellerin, A Aykanat, B Ellezam, EC Troiano, J Karamchandani, ... Canadian Journal of Neurological Sciences 49 (s1), S3-S3, 2022 | | 2022 |
| A. 4 A Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians D Pellerin, A Aykanat, B Ellezam, EC Troiano, J Karamchandani, ... Canadian Journal of Neurological Sciences 48 (s3), S14-S15, 2021 | | 2021 |
| NEW GENES AND DISEASES/NGS & RELATED TECHNIQUES: P. 332 Role of whole exome sequencing in identifying rare genetic variants in a cohort of patients presenting with congenital … A Aykanat, C Genetti, W Win, Z Valivullah, E O'Heir, B Darras, R Laine, ... Neuromuscular Disorders 30, S143, 2020 | | 2020 |
| P. 028 A milder congenital myopathy in the french canadians caused by a novel TNNT1 homozygous missense mutation D Pellerin, A Aykanat, B Ellezam, J Karamchandani, J Mathieu, ... Canadian Journal of Neurological Sciences 46 (s1), S21-S21, 2019 | | 2019 |
| 24th WMS Congress–2019-Programme P Laforêt, M Orngreen, D Lefeber, T Jeppesen, M Inoue, S Uchino, A Iida, ... Neuromuscular Disorders 29, S7-S34, 2019 | | 2019 |
| CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES: P. 229Genetics and modeling of TNNT1 genetic variants in nemaline myopathy C Konersman, A Aykanat, E Troiano, A Beggs Neuromuscular Disorders 28, S101, 2018 | | 2018 |
