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Cancer Genetics|December 20, 2025
Multiple endocrine neoplasia type 1 syndrome due to novel Alu insertionAislinn Cragg, Hannah Boon, Treena Cranston, et al.Human Molecular Genetics|July 28, 2018
Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling biasCaroline M Gorvin, Morten Frost, Tomas Malinauskas, et al.Journal of the Endocrine Society|November 5, 2020
Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) VariantKate E Lines, Lisa B Nachtigall, Laura E Dichtel, et al.The Journal of Clinical Endocrinology and Metabolism|March 10, 2020
Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)Poonam Dharmaraj, Caroline M Gorvin, Astha Soni, et al.European Journal of Endocrinology|May 6, 2022
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidismTreena Cranston, Hannah Boon, Mie K Olesen, et al.Journal of the Endocrine Society|November 15, 2019
Pediatric Parathyroid Carcinoma: A Case Report and Review of the LiteratureAditya Dutta, Rimesh Pal, Nimisha Jain, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 27, 2023
GNA11 Variants Identified in Patients with Hypercalcemia or HypocalcemiaSarah A Howles, Caroline M Gorvin, Treena Cranston, et al.The Journal of Clinical Endocrinology and Metabolism|December 11, 2019
Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2Caroline M Gorvin, Victoria J Stokes, Hannah Boon, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 12, 2020
Multiple Endocrine Neoplasia Type 1 (MEN1) 5'UTR Deletion, in MEN1 Family, Decreases Menin ExpressionKreepa G Kooblall, Hannah Boon, Treena Cranston, et al.The Journal of Clinical Endocrinology and Metabolism|June 7, 2014
ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasiaLucia Gagliardi, Andreas W Schreiber, Christopher N Hahn, et al.Pageof 2