Emma L. Baple

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Antonio Rueda Martin, Eleanor Williams, Rebecca E. Foulger et al. · Nature Genetics · 2019 · 554 citations

Panelapp Crowdsources, Functional Genomics, Engineering +15

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

Clare Turnbull, Richard H. Scott, Ellen Thomas et al. · BMJ · 2018 · 456 citations

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Louise E Docherty, Faisal I. Rezwan, Rebecca Poole et al. · Nature Communications · 2015 · 187 citations · Full text

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Xueqing Zou, Gene Ching Chiek Koh, Arjun S. Nanda et al. · Nature Cancer · 2021 · 164 citations · Full text

Genome Instability, Medicine, Genetics +11

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Gaurav V. Harlalka, Anna Lehman, Barry A. Chioza et al. · Brain · 2013 · 139 citations · Full text

Genetics, Glycobiology, Molecular Biology +20