Concepedia

Thomas W. Laver

TW

28

Publications

2K

Citations

20

H-Index

2003

Active since

Affiliations

University of Exeter(Current)

Royal Devon & Exeter NHS Foundation Trust

Genomics (United Kingdom)

Royal Manchester Children's Hospital

Sydney Children's Hospital

Thomas W. Laver is an author at University of Exeter specializing in medicine, genetics, and genomics.

ORCID

Top concepts

Publications per year

2003–2023

28

Publications

28

Assessing the performance of the Oxford Nanopore Technologies MinION

Thomas W. Laver, Jamie Harrison, Paul O’Neill et al. · Biomolecular Detection and Quantification · 2015 · 564 citations · Full text

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

Caroline F. Wright, Ben C. West, Marcus A. Tuke et al. · The American Journal of Human Genetics · 2019 · 228 citations · Full text

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Kashyap Patel, Jarno L. T. Kettunen, Markku Laakso et al. · Nature Communications · 2017 · 140 citations · Full text

Fully Automated RNAscope In Situ Hybridization Assays for Formalin‐Fixed Paraffin‐Embedded Cells and Tissues

Courtney Anderson, Bingqing Zhang, Melanie Miller et al. · Journal of Cellular Biochemistry · 2016 · 108 citations · Full text

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YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

Elisa De Franco, Maria Lytrivi, Hazem Ibrahim et al. · Journal of Clinical Investigation · 2020 · 89 citations · Full text

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