Sarah E. Flanagan
Exeter, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 216 publications
A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott-Rallison syndrome.
Journal: Diabetic medicine : a journal of the British Diabetic Association
Published: July 20, 2026
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.
Journal: American journal of human genetics
Published: July 14, 2026
Incorporating mtDNA Structural Variant Analysis Into Routine Genome Sequencing Increases Monogenic Diabetes Diagnosis at No Additional Cost.
Journal: Diabetes care
Published: May 22, 2026
The effect of hypoglycaemia on neurodevelopment: insights from congenital hyperinsulinism.
Journal: Nature reviews. Endocrinology
Published: April 16, 2026
Dual phenotype in a patient with adult-onset hyperinsulinism and diabetes caused by an activating MAFA variant.
Journal: Journal of the Endocrine Society
Published: February 27, 2026
Birth prevalence and characterisation of congenital hyperinsulinism in Western Australia over two decades.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: February 22, 2026
Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.
Journal: Journal of the Endocrine Society
Published: January 13, 2026
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.
Journal: American journal of human genetics
Published: December 01, 2025
Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2.
Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2.
Journal: Journal of medical genetics
Published: October 07, 2025
Last Updated: 09/26/2026