| Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants LX Zhang, G Lemire, C Gonzaga-Jauregui, S Molidperee, ... Genetics in Medicine 22 (8), 1338-1347, 2020 | 43 | 2020 |
| Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia G Lemire, B Zheng, GU Ediae, R Zou, PT Bhola, C Chisholm, ... American Journal of Medical Genetics Part A 185 (10), 3005-3011, 2021 | 10 | 2021 |
| Implementation of epilepsy multigene panel testing in Ontario, Canada DA Dyment, AN Prasad, KM Boycott, GU Ediae, T Hartley, A Hassan, ... Canadian Journal of Neurological Sciences 47 (1), 61-68, 2020 | 7 | 2020 |
| The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience GU Ediae, G Lemire, C Chisholm, T Hartley, A Eaton, M Osmond, ... American Journal of Medical Genetics Part A 191 (2), 338-347, 2023 | 5 | 2023 |
| Pathogenic variant in the X‐linked ARR3 gene associated with variable early‐onset myopia GU Ediae, C Chisholm, G Lemire, F Campbell, KM Boycott American Journal of Medical Genetics Part A 194 (2), 397-399, 2024 | 1 | 2024 |
| Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A … T Hartley, D Marshall, M Acker, K Fooks, MK Gillespie, EM Price, ... Genetics in Medicine 26 (2), 101012, 2024 | | 2024 |
