Associated Papers
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
40225155 (PubMed )
Supplement: 8857940.f1.pdf
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
Colclough K et al.
Diabetes, 2022
Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience.
Sharma R et al.
Indian Pediatrics, 2022
34992182 (PubMed )
Supplement: 13312_2022_2438_MOESM1_ESM.pdf
Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience.
Casertano A et al.
Italian Journal of Pediatrics, 2020
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism.
Houghton JA et al.
The Journal of Pathology. Clinical Research, 2020
31577849 (PubMed )
Supplement: CJP2-6-12-s001.pdf
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
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