Associated Papers
Population-based, first-tier genomic newborn screening in the maternity ward.
Boemer F et al.
Nature Medicine, 2025
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Sirolimus in infants with congenital hyperinsulinism (CHI) - a single-centre experience.
Panigrahy N et al.
European Journal of Pediatrics, 2022
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions.
Craigie RJ et al.
Frontiers in Endocrinology, 2018
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Kapoor RR et al.
European Journal of Endocrinology, 2013
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.
Wang F et al.
The Journal of Biological Chemistry, 2012
First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism.
Qubbaj W et al.
Reproductive Biomedicine Online, 2011
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
Bellanné-Chantelot C et al.
Journal of Medical Genetics, 2010
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Flanagan SE et al.
Human Mutation, 2009
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.
Lin YW et al.
The Journal of Biological Chemistry, 2008
Identification of the PIP2-binding site on Kir6.2 by molecular modelling and functional analysis.
Haider S et al.
The Embo Journal, 2007
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
Henwood MJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2005