Nicholas J Shaw

GATA3 haplo-insufficiency causes human HDR syndrome

Hilde Van Esch, Peter Groenen, M. Andrew Nesbit et al. · Nature · 2000 · 654 citations

Life Sciences, Genetics, Molecular Genetics +4

A Common and Recurrent 13-bp Deletion in the Autoimmune Regulator Gene in British Kindreds with Autoimmune Polyendocrinopathy Type 1

Simon H. S. Pearce, Tim Cheetham, Helen Imrie et al. · The American Journal of Human Genetics · 1998 · 198 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Amalgamated Reference Data for Size-Adjusted Bone Densitometry Measurements in 3598 Children and Young Adults—the ALPHABET Study

Nicola Crabtree, Nicholas J Shaw, Nicholas Bishop et al. · Journal of Bone and Mineral Research · 2016 · 135 citations · Full text

Medicine, Pediatrics, Radiology +17

CYP3A4 mutation causes vitamin D–dependent rickets type 3

Jeffrey D. Roizen, Dong Li, Lauren O’Lear et al. · Journal of Clinical Investigation · 2018 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta

Wayne A. Cabral, Masaki Ishikawa, Matthias Garten et al. · PLoS Genetics · 2016 · 72 citations · Full text

Medicine, Genetics, Molecular Genetics +17