Concepedia

Emma L. Baple

EL

Statistics

Publications

83

Citations

5.2K

H-Index

35

Active since

2007

Affiliations

University of Exeter(Current)

Royal Devon & Exeter NHS Foundation Trust

University College London

University of Southampton

Royal Devon and Exeter Hospital

Emma L. Baple is an author at University of Exeter specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

2007–2024

83

Publications

83

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

, , +14

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Antonio Rueda Martin, Eleanor Williams, Rebecca E. Foulger et al. · Nature Genetics · 2019 · 594 citations

, , +8

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

Clare Turnbull, Richard H. Scott, Ellen Thomas et al. · BMJ · 2018 · 477 citations

, , +9

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 · 204 citations · Full text

, , +17

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 · 165 citations · Full text

, , +14

1–5 of 83