Sarah K. Westbury - Concepedia

Author

Sarah K. Westbury

Also Known As

Catherine Williamson, Cédric Duval, Geoffrey Woods, Henry Watson, James E. Thaventhiran, M. Bartlett, NIHR BioResource, Paul D. Upton, Pavels Gordins, S. K. Westbury

Publications

3.9K

Citations

H-Index

Concepts

All Affiliations

University of Cambridge University of Bristol Medical Research Council KU Leuven MRC Biostatistics Unit

About

Sarah K. Westbury is an author at University of Cambridge specializing in medicine, genetics, and molecular diagnostics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	726
2	Health Sciences	1	1	28
3	Public Health	1	1	125
4	Epidemiology	1	1	125
5	Health Informatics	1	1	125

Sarah K. Westbury

Publications

2.1K

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
Transcriptional diversity during lineage commitment of human blood progenitors Lu Chen, Myrto Kostadima, Joost H.A. Martens, Science	2014	296
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders Ilenia Simeoni, Jonathan Stephens, Fengyuan Hu, Blood	2016	182
Chorein detection for the diagnosis of chorea‐acanthocytosis Carol Dobson‐Stone, Antonio Velayos‐Baeza, Lea A. Filippone, Annals of Neurology	2004	160
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss Simon Stritt, Paquita Nurden, Ernest Turro, Blood	2016	154
A dominant gain-of-function mutation in universal tyrosine kinase <i>SRC</i> causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies Ernest Turro, Daniel Greene, Anouck Wijgaerts, Science Translational Medicine	2016	142
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders Sarah K. Westbury, Ernest Turro, Daniel Greene, Genome Medicine ThrombosisUnexplained BleedingEpidemiologyMedicineGenetics	2015	125
Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia Irina Pleines, Joanne Woods, Stéphane Chappaz, Journal of Clinical Investigation	2017	78
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
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia Suthesh Sivapalaratnam, Sarah K. Westbury, Jonathan Stephens, Blood	2016	51

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