Browsing Centre for Genomics and Child Health by Author "Wright, J"
Now showing items 1-7 of 7
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Associations of autozygosity with a broad range of human phenotypes
Clark, DW; Okada, Y; Moore, KHS; Mason, D; Pirastu, N; Gandin, I; Mattsson, H; Barnes, CLK; Lin, K; Zhao, JH (2019-10-31) -
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 ... -
Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes
Narasimhan, VM; Rahbari, R; Scally, A; Wuster, A; Mason, D; Xue, Y; Wright, J; Trembath, RC; Maher, ER; van Heel, DA (2017-08-21) -
Fine-scale population structure and demographic history of British Pakistanis
Arciero, E; Dogra, SA; Malawsky, DS; Mezzavilla, M; Tsismentzoglou, T; Huang, QQ; Hunt, KA; Mason, D; Sharif, SM; van Heel, DA (2021) -
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) -
Investigating the impact of London’s Ultra Low Emission Zone on children’s health: Children’s Health in London and Luton (CHILL): Protocol for a prospective parallel cohort study
Colligan, G; Tsocheva, I; Scales, J; Chavda, J; Dove, R; Kalsi, H; Wood, H; Cross, L; Newby, C; Hall, A (2021)<h4>Introduction</h4> Air pollution harms health across the life course. Children are at particular risk of adverse effects during development, which may impact on health in later life. Interventions that improve air quality ... -
Mapping the human genetic architecture of COVID-19
Niemi, MEK; Karjalainen, J; Daly, M; Ganna, A; Mehtonen, J; Cordioli, M; Kaunisto, M; Pigazzini, S; Donner, K; Kivinen, K (2021)