-
Rivas, MA, Pirinen, M, Conrad, DF, Lek, M, Tsang, EK, Karczewski, KJ, Maller, JB, Kukurba, KR, DeLuca, DS, Fromer, M, et al.
Effect of predicted protein-truncating genetic variants on the human transcriptome.
Science
348(6235)
:
666 -669
2015
view publication
-
Grimm, DG, Azencott, C, Aicheler, F, Gieraths, U, MacArthur, DG, Samocha, KE, Cooper, DN, Stenson, PD, Daly, MJ, Smoller, JW, et al.
The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity.
Human Mutation
36(5)
:
513 -523
2015
view publication
-
Cabrera-Serrano, M, Ghaoui, R, Ravenscroft, G, Johnsen, RD, Davis, MR, Corbett, A, Reddel, S, Sue, CM, Liang, C, Waddell, LB, et al.
Expanding the phenotype of GMPPB mutations.
Brain
138(4)
:
836 -844
2015
view publication
-
Menezes, MP, Waddell, L, Lenk, GM, Kaur, S, MacArthur, DG, Meisler, MH, Clarke, NF.
Response.
Neuromuscular Disorders
25(4)
:
360
2015
view publication
-
Yuen, M, Sandaradura, SA, Dowling, JJ, Kostyukova, AS, Moroz, N, Quinlan, KG, Lehtokari, V-L, Ravenscroft, G, Todd, EJ, Ceyhan-Birsoy, O, et al.
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Journal of Clinical Investigation
125(1)
:
456 -457
2015
view publication