I. K. Temple

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

F. Ashcroft, T. Frayling, A. Hattersley, 2004, The New England journal of medicine.

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.

C. Turner, D. Bunyan, E. Cross, 2009, Kidney international.

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.

A. Hattersley, S. Ellard, L. Harries, 2004, The Journal of clinical endocrinology and metabolism.

Pathogenicity and selective constraint on variation near splice sites

Patrick J. Short, M. Hurles, J. Barrett, 2018, bioRxiv.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.