Alison Salt

From guidelines to practice: A retrospective clinical cohort study investigating implementation of the early detection guidelines for cerebral palsy in a state-wide early intervention service

Ashleigh L Thornton, R. Ward, N. Bear, 2022, BMJ Open.

Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation

A. Salt, N. Ragge, P. Farndon, 2005, British Journal of Ophthalmology.

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

C. Ponting, H. Johansen-Berg, J. Klein, 2008, American journal of human genetics.

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions

A. Wyatt, J. Crolla, A. Fielder, 2007, British Journal of Ophthalmology.

Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21

A. Salt, R. Dalton, K. Gregory-Evans, 2004, American journal of medical genetics. Part A.

Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience

R. Skoss, H. Leonard, Kingsley Wong, 2023, Journal of Intellectual & Developmental Disability.

Heterozygous mutations of OTX2 cause severe ocular malformations.

B. Lorenz, S. Sisodiya, A. Fielder, 2005, American journal of human genetics.