-
Carrot-Zhang, J, Chambwe, N, Damrauer, JS, Knijnenburg, TA, Robertson, AG, Yau, C, Zhou, W, Berger, AC, Huang, K-L, Newberg, JY, et al.
Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer.
Cancer Cell
37(5)
:
639 -654.e6
2020
view publication
-
Mroczek, M, Durmus, H, Bijarnia-Mahay, S, Töpf, A, Ghaoui, R, Bryen, S, Duff, J, England, E, Cooper, ST, MacArthur, DG, et al.
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.
Neuromuscular Disorders
30(4)
:
310 -314
2020
view publication
-
Töpf, A, Oktay, Y, Balaraju, S, Yilmaz, E, Sonmezler, E, Yis, U, Laurie, S, Thompson, R, Roos, A, MacArthur, DG, et al.
Severe neurodevelopmental disease caused by a homozygous TLK2 variant.
European Journal of Human Genetics
28(3)
:
383 -387
2020
view publication
-
Bryen, SJ, Ewans, LJ, Pinner, J, MacLennan, SC, Donkervoort, S, Castro, D, Töpf, A, O'Grady, G, Cummings, B, Chao, KR, et al.
Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Human Mutation
41(2)
:
403 -411
2020
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.
International Journal of Epidemiology
49(1)
:
20 -21i
2020
view publication