V. Hyland

A protocol for the identification and validation of novel genetic causes of kidney disease

R. Taft, G. Rangan, E. Wolvetang, 2015, BMC Nephrology.

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

S. Robertson, I. Glass, T. Roscioli, 2003, American journal of medical genetics. Part A.

DNA elution from buccal cells stored on Whatman FTA Classic Cards using a modified methanol fixation method.

R. Sturm, C. Wicking, V. Hyland, 2009, BioTechniques.

Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X‐inactivation utilizing case‐parent trio SNP microarray analysis

H. Aung, D. Fairbairn, J. Mason, 2018, Molecular genetics & genomic medicine.

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14

D. Murrell, A. Harris, V. Hyland, 2017, The British journal of dermatology.

Atypical HUS associated with severe, unexpected antibody‐mediated rejection post kidney transplant

A. Mallett, C. Hawley, Sarah Stevenson, 2014, Nephrology.