-
Stark, Z, Dolman, L, Manolio, TA, Ozenberger, B, Hill, SL, Caulfied, MJ, Levy, Y, Glazer, D, Wilson, J, Lawler, M, et al.
Integrating Genomics into Healthcare: A Global Responsibility..
Am J Hum Genet
104(1)
:
13 -20
2019
view publication
-
Houweling, PJ, Papadimitriou, ID, Seto, JT, Pérez, LM, Coso, JD, North, KN, Lucia, A, Eynon, N.
Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease..
Hum Mutat
39(12)
:
1774 -1787
2018
view publication
-
Cline, MS, Liao, RG, Parsons, MT, Paten, B, Alquaddoomi, F, Antoniou, A, Baxter, S, Brody, L, Cook-Deegan, R, Coffin, A, et al.
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2..
PLoS Genet
14(12)
:
e1007752
2018
view publication
-
Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peltz, SW, Ataluren Phase 2b Study Group.
The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy..
Neurology
91(13)
:
e1215 -e1219
2018
view publication
-
Chisholm, AK, Anderson, VA, Pride, NA, Malarbi, S, North, KN, Payne, JM.
Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis..
Neuropsychol Rev
28(3)
:
317 -340
2018
view publication