Browsing Centre for Genomics and Child Health by Author "MacArthur, DG"
Now showing items 1-7 of 7
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Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria.
McGregor, TL; Hunt, KA; Yee, E; Mason, D; Nioi, P; Ticau, S; Pelosi, M; Loken, PR; Finer, S; Lawlor, DA (2020-03-24)By sequencing autozygous human populations we identified a healthy adult woman with lifelong complete knockout of HAO1 (expected ~1 in 30 million outbred people). HAO1 (glycolate oxidase) silencing is the mechanism of ... -
Evaluating drug targets through human loss-of-function genetic variation
Minikel, EV; Karczewski, KJ; Martin, HC; Cummings, BB; Whiffin, N; Rhodes, D; Alfoldi, J; Trembath, RC; van Heel, DA; Daly, MJ (2020-05-28) -
Health and population effects of rare gene knockouts in adult humans with related parents
Narasimhan, VM; Hunt, KA; Mason, D; Baker, CL; Karczewski, KJ; Barnes, MER; Barnett, AH; Bates, C; Bellary, S; Bockett, NA (2016-04-22) -
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan
Carss, KJ; Stevens, E; Foley, AR; Cirak, S; Riemersma, M; Torelli, S; Hoischen, A; Willer, T; van Scherpenzeel, M; Moore, SA (2013-07-11) -
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability
Hunt, KA; Mistry, V; Bockett, NA; Ahmad, T; Ban, M; Barker, JN; Barrett, JC; Blackburn, H; Brand, O; Burren, O (2013) -
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis
Yang, Y; van der Klaauw, AA; Zhu, L; Cacciottolo, TM; He, Y; Stadler, LKJ; Wang, C; Xu, P; Saito, K; Hinton, A (2019-04-12) -
The UK10K project identifies rare variants in health and disease
Walter, K; Min, JL; Huang, J; Crooks, L; Memari, Y; McCarthy, S; Perry, JRB; Xu, C; Futema, M; Lawson, D (2015-10-01)