The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
2015 · The Lancet · 338 citations
https://doi.org/10.1016/s0140-6736(15)60098-8
J
Jayne Houghton
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Jayne Houghton is an academic researcher from University of Exeter. The author has contributed to research in topics: Hyperglycemia and glycemic control in critically ill and hospitalized patients & Pancreatic function and diabetes & Diabetes and associated disorders. The author has an h-index of 23, co-authored 84 publications.
ORCID: 0000-0001-9474-1536Papers by this author
worksImproved genetic testing for monogenic diabetes using targeted next-generation sequencing
2013 · Diabetologia · 307 citations
https://doi.org/10.1007/s00125-013-2962-5
Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man
2014 · Cell Metabolism · 144 citations
https://doi.org/10.1016/j.cmet.2013.11.021
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
Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
2015 · Case Reports in Genetics · 24 citations
https://doi.org/10.1155/2015/937201
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
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