Publications — Radcliffe Department of Medicine

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Genetics of hereditary forms of primary hyperparathyroidism.

English KA. et al, (2023), Hormones (Athens)

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT. et al, (2023), Genome Med, 15

GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.

Zecchin D. et al, (2023), J Invest Dermatol

S100PBP is regulated by mutated KRAS and plays a tumour suppressor role in pancreatic cancer.

Srivastava K. et al, (2023), Oncogene

The role of DNA methylation in human pancreatic neuroendocrine tumours

English KA. et al, (2023), Endocrine Oncology

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome

Kooblall KG. et al, (2023), JBMR Plus

Preclinical Models of Neuroendocrine Neoplasia

Sedlack AJH. et al, (2022), Cancers, 14, 5646 - 5646

miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2.

Kooblall KG. et al, (2022), Endocr Relat Cancer, 29, 557 - 568

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.

Stevenson M. et al, (2022), J Endocr Soc, 6

Corrigendum to 'Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes' [Surgery 171 (2021) 77-87].

Shariq OA. et al, (2022), Surgery

Functional dissection of GNAQ and GNA11 oncogenic mutations identifies potential targeted therapy

Zecchin D. et al, (2022), CANCER RESEARCH, 82

Long-term effectiveness of PTH(1-34) infusion therapy for autosomal dominant hypocalcaemia type 1

Sastre A. et al, (2021), HORMONE RESEARCH IN PAEDIATRICS, 94, 44 - 45

PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.

Sastre A. et al, (2021), N Engl J Med, 385, 189 - 191

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnany or menopause

Zhou J. et al, (2021), Nature Genetics

The bromodomain inhibitor JQ1+ reduces calcium-sensing receptor activity in pituitary cell-lines.

Lines KE. et al, (2021), J Mol Endocrinol

Multiple Endocrine Neoplasia Type 1 in Children and Adolescents: Clinical Features and Treatment Outcomes

SHARIQ O. and RICHARDS D., (2021), Surgery

Multiple Endocrine Neoplasia Type 1: Latest Insights.

Brandi ML. et al, (2021), Endocr Rev, 42, 133 - 170

Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant.

Lines KE. et al, (2020), J Endocr Soc, 4

Multiple endocrine neoplasia type 1 (MEN1) 5' UTR deletion, in MEN1 family, decreases menin expression.

Kooblall KG. et al, (2020), J Bone Miner Res

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.

Stevenson M. et al, (2020), Am J Med Genet A

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