Ellen Thomas - Concepedia

Author

Ellen Thomas

Also Known As

Catherine Titterton, Charu Deshpande, E R A Thomas, E. R. A. Thomas, E. Thomas, Ellen R A Thomas, Ellen R. A. Thomas, Ellen R.A. Thomas, Ellen RA Thomas, Ellen Ra Thomas

Publications

2.4K

Citations

H-Index

Concepts

All Affiliations

University College London Queen Mary University of London William Harvey Research Institute Genomics England Great Ormond Street Hospital

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	821
2	Natural Sciences	1	1	164
3	Public Health	1	1	25
4	Biostatistics	1	1	25
5	Epidemiology	1	1	25

Ellen Thomas

Publications

Citations

H-Index

Page 1

	Year	Citations
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease Keren Carss, Gavin Arno, Marie Erwood, The American Journal of Human Genetics Whole-genome SequencingAllelic VariantGenetic DisorderMedicineGenetics	2016	463
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS Clare Turnbull, Richard H. Scott, Ellen Thomas, BMJ	2018	456
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, Nature Cancer Genome InstabilityMedicineGeneticsNatural SciencesMolecular Biology	2021	164
Signatures of TOP1 transcription-associated mutagenesis in cancer and germline Martin A.M. Reijns, David Parry, Thomas Williams, Nature	2022	80
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia Jana Vandrovcová, Ellen Thomas, Santosh S. Atanur, Genetics in Medicine	2013	77
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes James Whitworth, Philip Smith, Jose‐Ezequiel Martín, The American Journal of Human Genetics Tumor BiologySomatic VariantBroad RangeTumor HeterogeneityAtypical Tumor Phenotypes	2018	70
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features Pauline Robbe, Kate Ridout, Dimitrios V. Vavoulis, Nature Genetics	2022	70
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis Natalia Dominik, Stefania Magri, Riccardo Curró, Brain Disease ProgressionImmunodeficienciesGeneticsDiagnosisPathology	2023	66
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders Charlie F Rowlands, Huw B. Thomas, Jenny Lord, Scientific Reports	2021	63
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy Alistair T. Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, Brain	2020	53

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