Tony Hulse

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects

Fadil Hannan, Sarah Howles, Angela Rogers et al. · Human Molecular Genetics · 2015 · 86 citations · Full text

Variations in<i>PROKR2</i>, But Not<i>PROK2</i>, Are Associated With Hypopituitarism and Septo-optic Dysplasia

Mark J. McCabe, Carles Gaston‐Massuet, Louise Gregory et al. · The Journal of Clinical Endocrinology & Metabolism · 2013 · 58 citations · Full text

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK

Federica Buonocore, Avinaash Maharaj, Younus Qamar et al. · Journal of the Endocrine Society · 2021 · 56 citations · Full text

Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2

Francesco Paolo Prete, Tarek Abdel‐Aziz, Clare Morkane et al. · British journal of surgery · 2018 · 48 citations · Full text

Treatment outcome with a selective RET tyrosine kinase inhibitor selpercatinib in children with multiple endocrine neoplasia type 2 and advanced medullary thyroid carcinoma

Ananth Shankar, Tom Kurzawinski, Emma Ross et al. · European Journal of Cancer · 2021 · 18 citations

Treatment Outcome, Surgical Oncology, Medicine +6