-
Karczewski, KJ, Francioli, LC, MacArthur, DG.
The mutational constraint spectrum quantified from variation in 141,456 humans.
2024
view publication
-
Pais, LS, Snow, H, Weisburd, B, Zhang, S, Baxter, S, DiTroia, S, O’Heir, E, England, E, Chao, K, Lemire, G, et al.
seqr : a web-based analysis and collaboration tool for rare disease genomics.
2024
view publication
-
Dhindsa, RS, Wang, Q, Vitsios, D, Burren, OS, Hu, F, DiCarlo, JE, Kruglyak, L, MacArthur, DG, Hurles, ME, Petrovski, S.
A minimal role for synonymous variation in human disease.
2024
view publication
-
Kipkemoi, P, Kim, HA, Christ, B, O’Heir, E, Allen, J, Austin-Tse, C, Baxter, S, Brand, H, Bryant, S, Buser, N, et al.
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
2024
view publication
-
Wieder, N, D’Souza, EN, Martin-Geary, AC, Lassen, FH, Talbot-Martin, J, Fernandes, M, Chothani, SP, Rackham, OJL, Schafer, S, Aspden, JL, et al.
Differences in 5’untranslated regions highlight the importance of translational regulation of dosage sensitive genes.
2024
view publication