PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panelsAntonio Rueda Martin, Ellen M. McDonagh, Eleanor Williams et al.|Nature Genetics|2019Cited by 590
The 100 000 Genomes Project: bringing whole genome sequencing to the NHSClare Turnbull, Mark J. Caulfield, Richard H. Scott et al.|BMJ|2018Cited by 476
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humansLouise E Docherty, Deborah Mackay, Jasmin Beygo et al.|Nature Communications|2015Cited by 204
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damageXueqing Zou, Athanasios Kousathanas, Gene Ching Chiek Koh et al.|Nature Cancer|2021Cited by 165
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGaurav V. Harlalka, Andrew H. Crosby, Anna Lehman et al.|Brain|2013Cited by 143