| Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics A Mainali, T Athey, S Bahl, C Hung, O Caluseriu, A Chan, A Eaton, ... American Journal of Medical Genetics Part A 191 (2), 510-517, 2023 | 13 | 2023 |
| Urine creatine metabolite panel as a screening test in neurodevelopmental disorders S Bahl, D Cordeiro, L MacNeil, A Schulze, S Mercimek-Andrews Orphanet Journal of Rare Diseases 15, 1-10, 2020 | 13 | 2020 |
| Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test G Silver, S Bahl, D Cordeiro, A Thakral, T Athey, S Mercimek-Andrews Genes 12 (8), 1227, 2021 | 9 | 2021 |
| Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic A Ambrose, M Sheehan, S Bahl, T Athey, S Ghai-Jain, A Chan, ... Orphanet Journal of Rare Diseases 17 (1), 360, 2022 | 4 | 2022 |
| Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta N Almenabawy, S Bahl, AL Ostlund, S Ghai-Jain, I Sosova, A Chan, ... Molecular Genetics and Metabolism Reports 38, 101055, 2024 | 2 | 2024 |
| Chromatin Variants Reveal the Genetic Determinants of Oncogenesis in Breast Cancer S Bahl, JS Carroll, M Lupien Cold Spring Harbor Perspectives in Medicine 12 (10), a041322, 2022 | 2 | 2022 |
| Genetic landscape of primary mitochondrial disorders due to pathogenic variants in the mitochondrial and nuclear genome in childhood and adulthood S Mercimek-Andrews, A Ambrose, S Sharma, D Zhang, S Bahl, C Hung, ... Molecular Genetics and Metabolism 141 (4), 108234, 2024 | | 2024 |
