Harry Perkins Institute of Medical Research

Artificial Intelligence-Assisted Systematic Literature Reviews in Metabolic Phenotyping: A Methodological Framework and Validation Study

Abstract Systematic literature reviews are widely acknowledged to be at the top of most evidence hierarchies but are very time-consuming and labour-intensive. The advent of artificial intelligence (AI) offers possibilities to accelerate the review process. We propose a systematic...

Functional Assessment of a Constitutively Activating CASR Variant Causing Autosomal Dominant Hypocalcaemia

Abstract Context A rare cause of hypocalcaemia, autosomal dominant hypocalcaemia type 1 (ADH1) arises from a gain-of-function variant of the calcium sensing receptor gene (CASR). Objective Three patients from two unrelated families, presenting with hypocalcaemia and other biochem...