-
Connaughton, DM, Dai, R, Owen, DJ, Marquez, J, Mann, N, Graham-Paquin, AL, Nakayama, M, Coyaud, E, Laurent, EMN, St-Germain, JR, et al.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations..
Am J Hum Genet
107(4)
:
727 -742
2020
view publication
-
Töpf, A, Johnson, K, Bates, A, Phillips, L, Chao, KR, England, EM, Laricchia, KM, Mullen, T, Valkanas, E, Xu, L, et al.
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness..
Genet Med
22(9)
:
1478 -1488
2020
view publication
-
Whiffin, N, Armean, IM, Kleinman, A, Marshall, JL, Minikel, EV, Goodrich, JK, Quaife, NM, Cole, JB, Wang, Q, Karczewski, KJ, et al.
The effect of LRRK2 loss-of-function variants in humans..
Nat Med
26(6)
:
869 -877
2020
view publication
-
Whiffin, N, Karczewski, KJ, Zhang, X, Chothani, S, Smith, MJ, Evans, DG, Roberts, AM, Quaife, NM, Schafer, S, Rackham, O, et al.
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals..
Nat Commun
11(1)
:
2523
2020
view publication
-
Wang, Q, Pierce-Hoffman, E, Cummings, BB, Alföldi, J, Francioli, LC, Gauthier, LD, Hill, AJ, O'Donnell-Luria, AH, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, et al.
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes..
Nat Commun
11(1)
:
2539
2020
view publication