Associated Papers
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Spatial transcriptomic analysis of mouse parathyroid gland cells expressing an activating variant of Gcm2.
Bolel P et al.
Jbmr Plus, 2025
Germline mutations of GCM2 cause a novel variant of hereditary primary hyperparathyroidism.
Iacobone M et al.
Updates in Surgery, 2025
Progress report on multiple endocrine neoplasia type 1.
Halperin R et al.
Familial Cancer, 2025
Recurrent primary hyperparathyroidism: A well-hidden genetic predisposition.
Berkebile G et al.
Annales D'endocrinologie, 2024
Familial states of primary hyperparathyroidism: an update.
Cetani F et al.
Journal of Endocrinological Investigation, 2024
A Knock-In Mouse Model of the Gcm2 Variant p.Y392S Develops Normal Parathyroid Glands.
Parekh VI et al.
Journal of the Endocrine Society, 2023
Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism.
Tolkin L et al.
Journal of the Endocrine Society, 2023
GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism.
Szalat A et al.
Frontiers in Endocrinology, 2023
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY et al.
Human Mutation, 2022
GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.
Vincze S et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.
Canaff L et al.
European Journal of Endocrinology, 2022
Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
García-Castaño A et al.
Scientific Reports, 2021
Whole exome sequencing in familial isolated primary hyperparathyroidism.
Cetani F et al.
Journal of Endocrinological Investigation, 2020
Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?
Coppin L et al.
European Journal of Endocrinology, 2020
Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas.
Riccardi A et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Molecular genetic insights into sporadic primary hyperparathyroidism.
Brewer K et al.
Endocrine-related Cancer, 2019
[Evolution of molecular genetic methods in the clinical diagnosis of hereditary endocrine tumour syndromes].
Sarkadi B et al.
Orvosi Hetilap, 2018
Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism.
Guan B et al.
Journal of the Endocrine Society, 2017
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
Guan B et al.
American Journal of Human Genetics, 2016
MAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM.
Arnold A
Transactions of the American Clinical and Climatological Association, 2016