Thomas W. Laver - Concepedia

Author

Thomas W. Laver

Also Known As

Laver Thomas, Laver, Thomas W., T. Laver, TW Laver, Thomas W. Laver, Thomas Laver, Thomas W Laver, Thomas W. Laver, Thomas William Laver

Publications

2.3K

Citations

H-Index

Concepts

All Affiliations

University of Exeter Royal Devon & Exeter NHS Foundation Trust Genomics (United Kingdom)Royal Manchester Children's Hospital Sydney Children's Hospital

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	380
2	Engineering	3	3	155
3	Public Health	2	2	99
4	Natural Sciences	1	1	74
5	Biology	1	1	23

Thomas W. Laver

Publications

Citations

H-Index

Page 1

	Year	Citations
Assessing the performance of the Oxford Nanopore Technologies MinION Thomas W. Laver, Jamie Harrison, Paul O’Neill, Biomolecular Detection and Quantification	2015	564
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting Caroline F. Wright, Ben C. West, Marcus A. Tuke, The American Journal of Human Genetics	2019	228
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance Kashyap Patel, Jarno L. T. Kettunen, Markku Laakso, Nature Communications	2017	140
Fully Automated RNAscope In Situ Hybridization Assays for Formalin‐Fixed Paraffin‐Embedded Cells and Tissues Courtney Anderson, Bingqing Zhang, Melanie Miller, Journal of Cellular Biochemistry EngineeringPathologyTranscriptomics TechnologyRnascope TechnologyGene Expression Profiling	2016	108
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress Elisa De Franco, Maria Lytrivi, Hazem Ibrahim, Journal of Clinical Investigation	2020	89
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts Uyenlinh L. Mirshahi, Kevin Colclough, Caroline F. Wright, The American Journal of Human Genetics Family MembersGeneticsGenetic EpidemiologyPathologyGenetic Medicine	2022	88
Pitfalls of haplotype phasing from amplicon-based long-read sequencing Thomas W. Laver, Richard Caswell, Karen Moore, Scientific Reports	2016	84
Structural Basis of hAT Transposon End Recognition by Hermes, an Octameric DNA Transposase from Musca domestica Alison B. Hickman, Hosam E. Ewis, Xianghong Li, Cell Octameric Dna TransposaseMusca DomesticaNatural SciencesGeneticsDna Analysis	2014	74
Evaluation of Evidence for Pathogenicity Demonstrates That <i>BLK</i> , <i>KLF11</i> , and <i>PAX4</i> Should Not Be Included in Diagnostic Testing for MODY Thomas W. Laver, Matthew N. Wakeling, Olivia Knox, Diabetes	2022	64
The Common p.R114W <i>HNF4A</i> Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes Thomas W. Laver, Kevin Colclough, Maggie Shepherd, Diabetes	2016	57

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