| Genome Sequencing for Diagnosing Rare Diseases MH Wojcik, G Lemire, E Berger, MS Zaki, M Wissmann, W Win, SM White, ... New England Journal of Medicine 390 (21), 1985-1997, 2024 | 2 | 2024 |
| Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease G Lemire, A Sanchis-Juan, K Russell, S Baxter, KR Chao, M Singer-Berk, ... The American Journal of Human Genetics 111 (5), 863-876, 2024 | 2 | 2024 |
| Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis MH Wojcik, G Lemire, MS Zaki, M Wissmann, W Win, S White, B Weisburd, ... medRxiv, 2023.08. 08.23293829, 2023 | 2 | 2023 |
| P138: Evaluating the impact of gnomAD v4 on genetic prevalence estimates S Baxter, M Singer-Berk, K Russell, M Amin, C Glaze, R Grant, J Lee, ... Genetics in Medicine Open 2, 2024 | 1 | 2024 |
| Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders JA Jurgens, BJ Barry, WM Chan, S MacKinnon, MC Whitman, PMM Ruiz, ... Genetics in Medicine, 101216, 2024 | | 2024 |
| Exome copy number variant (CNV) detection, analysis, and curation from 6,678 families with undiagnosed rare genetic disease G Lemire, K Russell, S Baxter, K Chao, E Evangelista, M Singer-Berk, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 45-45, 2024 | | 2024 |
| P114: Use of population data to empower patient organizations and improve advocacy for rare disease therapeutics S Baxter, M Singer-Berk, K Russell, E Groopman, N Watts, M Wilson, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
| AN ANALYSIS OF THE INVOLVEMENT OF TOLL RECEPTORS IN CELL MOVEMENTS DURING THE ELONGATION OF TRIBOLIUM CASTANEUM K Russell | | 2022 |
