Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism
2022 · Nature Genetics · 59 citations
https://doi.org/10.1038/s41588-022-01204-x
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Thomas W. Laver
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Thomas W. Laver is an academic researcher from University of Exeter. The author has contributed to research in topics: Pancreatic function and diabetes & Genomics and Rare Diseases & Hyperglycemia and glycemic control in critically ill and hospitalized patients. The author has an h-index of 23, co-authored 66 publications.
ORCID: 0000-0001-6399-0089Papers by this author
worksHomozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
2018 · Genetics in Medicine · 34 citations
https://doi.org/10.1038/s41436-018-0281-4
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non‐genetic risk factors in this group
2022 · Pediatric Diabetes · 8 citations
https://doi.org/10.1111/pedi.13333
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity
2025 · Genome Medicine · 8 citations
https://doi.org/10.1186/s13073-025-01440-w
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements
2024 · European Journal of Human Genetics · 6 citations
https://doi.org/10.1038/s41431-024-01593-z
Rare Variants in <i>NEUROD1</i> and <i>PDX1</i> Are Low-Penetrance Causes of MODY, Whereas Those in <i>APPL1</i> and <i>WFS1</i> Are Not Associated With MODY
2025 · Diabetes · 5 citations
https://doi.org/10.2337/db25-0442
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