-
Burley, K, Fitzgibbon, L, van Heel, D, Team, GHR, Akhtar, S, Anwar, M, Arciero, E, Asgar, O, Ashraf, S, Breen, G, et al.
PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry.
Research and Practice in Thrombosis and Haemostasis
7(4)
:
100175
2023
view publication
-
Singer-Berk, M, Gudmundsson, S, Baxter, S, Seaby, E, England, E, Wood, J, Son, R, Watts, N, Karczewski, K, Harrison, S, et al.
P559: Improved classification framework demonstrates many population predicted loss of function (pLoF) variants in genomic sequencing do not result in LoF*.
Genetics in Medicine Open
1(1)
:
100606
2023
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.
American Journal of Human Genetics
109(12)
:
2105 -2109
2022
view publication
-
Karczewski, KJ, Solomonson, M, Chao, KR, Goodrich, JK, Tiao, G, Lu, W, Riley-Gillis, BM, Tsai, EA, Kim, HI, Zheng, X, et al.
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.
Cell Genomics
2(9)
:
100168
2022
view publication
-
Glinos, DA, Garborcauskas, G, Hoffman, P, Ehsan, N, Jiang, L, Gokden, A, Dai, X, Aguet, F, Brown, KL, Garimella, K, et al.
Transcriptome variation in human tissues revealed by long-read sequencing.
Nature
608(7922)
:
353 -359
2022
view publication