Search filters

List of works by Thomas W Laver

Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.

scientific article

Misannotation of multiple-nucleotide variants risks misdiagnosis

scientific article published on 01 October 2019

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

scientific article

Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome

scientific article published on 08 October 2019

SavvyCNV: Genome-wide CNV calling from off-target reads

scientific article published on 16 March 2022

The Common Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY

scientific article published on 12 June 2018

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

scientific article published on 06 February 2020

Paulina is supported by:

About Paulina

Help