M. Andrew Nesbit
University of Ulster(GB)
Publications by Year
Research Areas
Parathyroid Disorders and Treatments, Congenital heart defects research, Medical Imaging and Pathology Studies, Genetic Syndromes and Imprinting, Erythrocyte Function and Pathophysiology
Most-Cited Works
- → GATA3 haplo-insufficiency causes human HDR syndrome(2000)649 cited
- → Mutations Affecting G-Protein Subunit α11in Hypercalcemia and Hypocalcemia(2013)399 cited
- → Factors influencing success of clinical genome sequencing across a broad spectrum of disorders(2015)386 cited
- → Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3(2012)283 cited
- → Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites(2012)187 cited
- → Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome(2004)167 cited
- → An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism