-
Minikel, EV, Karczewski, KJ, Martin, HC, Cummings, BB, Whiffin, N, Rhodes, D, Alföldi, J, Trembath, RC, van Heel, DA, Daly, MJ, et al.
Evaluating potential drug targets through human loss-of-function genetic variation.
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view publication
-
McGregor, TL, Hunt, KA, Nioi, P, Mason, D, Ticau, S, Pelosi, M, Loken, PR, Finer, S, Griffiths, CJ, MacArthur, DG, et al.
Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1.
2024
view publication
-
Finer, S, Martin, HC, Khan, A, Hunt, KA, MacLaughlin, B, Ahmed, Z, Ashcroft, R, Durham, C, MacArthur, DG, McCarthy, MI, et al.
Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study of British-Bangladeshi and British-Pakistani people.
2024
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-
Whiffin, N, Roberts, A, Minikel, E, Zappala, Z, Walsh, R, O’Donnell-Luria, AH, Karczewski, KJ, Harrison, SM, Thomson, KL, Sage, H, et al.
Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture.
2024
view publication
-
Ulirsch, JC, Verboon, JM, Kazerounian, S, Guo, MH, Yuan, D, Ludwig, LS, Handsaker, RE, Abdulhay, NJ, Fiorini, C, Genovese, G, et al.
The Genetic Landscape of Diamond-Blackfan Anemia.
2024
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