S. E. A. Leigh - Concepedia

Author

S. E. A. Leigh

Also Known As

A. Kousathanas, A. Sieghart, Anna Lakey, F.J. Lopez, Fiona Maleady-Crowe, J. Mason, S E A Leigh, S. E. A. LEIGH, S. E. A. Leigh, S. LEIGH

122

Publications

6.1K

Citations

H-Index

Concepts

All Affiliations

Genomics England University College London Queen Mary University of London William Harvey Research Institute University of Oxford

About

S. E. A. Leigh is an author at Genomics England specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	19	3.2K
2	Public Health	4	4	527
3	Engineering	2	2	620
4	Health Sciences	1	1	272
5	Natural Sciences	1	1	164

S. E. A. Leigh

Publications

4.9K

Citations

H-Index

Page 1

	Year	Citations
Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli Cayetano Pleguezuelos‐Manzano, Jens Puschhof, Axel Rosendahl Huber, Nature MedicinePathogenesisColorectal CancerPathologyMolecular Pathology	2020	1.1K
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels Antonio Rueda Martin, Eleanor Williams, Rebecca E. Foulger, Nature Genetics Panelapp CrowdsourcesFunctional GenomicsEngineeringData ScienceBiological Database	2019	554
Substitution mutational signatures in whole-genome–sequenced cancers in the UK population Andrea Degasperi, Xueqing Zou, Tauanne Dias Amarante, Science BioinformaticsWhole-genome SequencingFunctional GenomicsSomatic VariantTumor Heterogeneity	2022	272
Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database S. E. A. Leigh, A. H. Foster, Roslyn A. Whittall, Annals of Human Genetics Cholesterol ParticlesGeneticsGenetic EpidemiologyHuman PolymorphismPathology	2008	232
Low‐Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment Ebele Usifo, S. E. A. Leigh, Ros Whittall, Annals of Human Genetics	2012	196
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
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Genetics in Medicine Bioinformatics DatabaseGlobal EffortGeneticsComputational GenomicsGene Curation Coalition	2022	145
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý, Genetics in Medicine Clinical Genome ResourceCardiovascular DiseaseMedicineGeneticsGenetic Epidemiology	2021	143
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall, Nature Communications	2020	123
Human and mouse essentiality screens as a resource for disease gene discovery Pilar Cacheiro, Violeta Muñoz‐Fuentes, Stephen A. Murray, Nature Communications	2020	119

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