Thomas W. Laver
University of Exeter(GB)
Publications by Year
Research Areas
Pancreatic function and diabetes, Genomics and Rare Diseases, Hyperglycemia and glycemic control in critically ill and hospitalized patients, Diabetes and associated disorders, Genomics and Phylogenetic Studies
Most-Cited Works
- → Assessing the performance of the Oxford Nanopore Technologies MinION(2015)585 cited
- → Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting(2019)228 cited
- → Update of variants identified in the pancreatic β‐cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes(2020)167 cited
- → Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance(2017)143 cited
- → Fully Automated RNAscope In Situ Hybridization Assays for Formalin‐Fixed Paraffin‐Embedded Cells and Tissues(2016)111 cited
- → Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts(2022)91 cited
- → A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia(2017)90 cited
- → YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress(2020)89 cited
- → Pitfalls of haplotype phasing from amplicon-based long-read sequencing(2016)85 cited
- → Structural Basis of hAT Transposon End Recognition by Hermes, an Octameric DNA Transposase from Musca domestica(2014)74 cited