Browsing byAuthorThompson, BA
Showing results 1 to 3 of 3
Issue Date | Title | Author(s) |
2020 | Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation. | Thompson, BA; Walters, R; Parsons, MT; Dumenil, T; Drost, M; Tiersma, Y; Lindor, NM; Tavtigian, SV; de Wind, N; Spurdle, AB; InSiGHT Variant Interpretation Committee, |
2021-05-30 | Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. | Pakdaman, Y; Berland, S; Bustad, HJ; Erdal, S; Thompson, BA; James, PA; Power, KN; Ellingsen, S; Krooni, M; Berge, LI; Sexton, A; Bindoff, LA; Knappskog, PM; Johansson, S; Aukrust, I |
2022-07 | Real world outcomes and implementation pathways of exome sequencing in an adult genetic department. | Walsh, M; West, K; Taylor, JA; Thompson, BA; Hopkins, A; Sexton, A; Ragunathan, A; Verma, KP; Panetta, J; Matotek, E; Fahey, MC; Christie, M; Winship, IM; Trainer, AH; James, PA |