A. Jones

Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria

P. Waters, M. Parniak, C. Scriver, 1999, Journal of Inherited Metabolic Disease.

PHEXdb, a locus‐specific database for mutations causing X‐linked hypophosphatemia

H. Tenenhouse, A. Jones, Y. Sabbagh, 2000, Human mutation.

Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene.

C. Langman, N. Roslin, K. Morgan, 2001, Journal of the American Society of Nephrology : JASN.

Hemorrhage is uncommon in new Alzheimer family with Flemish amyloid precursor protein mutation

A. Godbolt, M. Rossor, P. Schofield, 2004, Neurology.