Concepedia

Ellen Thomas

ET

22

Publications

2K

Citations

21

H-Index

2013

Active since

Affiliations

University College London(Current)

Queen Mary University of London

William Harvey Research Institute

Genomics England

Great Ormond Street Hospital

Ellen Thomas is an author at University College London specializing in medicine, genetics, and molecular diagnostics.

Top concepts

Publications per year

2013–2023

22

Publications

22

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 · 463 citations · Full text

, , +11

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

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

, , +11

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

Martin A.M. Reijns, David Parry, Thomas Williams et al. · Nature · 2022 · 80 citations · Full text

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

Jana Vandrovcová, Ellen Thomas, Santosh S. Atanur et al. · Genetics in Medicine · 2013 · 77 citations · Full text

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