Concepedia

Emma Wakeling

EW

Statistics

Publications

88

Citations

8.4K

H-Index

45

Active since

1996

Affiliations

London North West Healthcare NHS Trust(Current)

University College London

Great Ormond Street Hospital for Children NHS Foundation Trust

Great Ormond Street Hospital

University of Manchester

Emma Wakeling is an author at London North West Healthcare NHS Trust specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

1996–2024

88

Publications

88

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian Rice, Paul R. Kasher, Gabriella Forte et al. · Nature Genetics · 2012 · 943 citations

, , +9

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Gillian Rice, Jacquelyn Bond, Aruna Asipu et al. · Nature Genetics · 2009 · 684 citations

, , +11

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

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 484 citations · Full text

, , +17

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 291 citations · Full text

, , +13

1–5 of 88