A. Fryer

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

A. Monaco, M. Brin, J. Volkmann, 2002, European Journal of Human Genetics.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes

J. Clayton-Smith, U. Kini, A. Fryer, 2005, Archives of Disease in Childhood - Fetal and Neonatal Edition.

Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.

A. Harding, R. Appleton, A. Fryer, 1994, Archives of disease in childhood.

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

G. Mortier, D. Rimoin, A. Zankl, 2005, Journal of Medical Genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

J. Clayton-Smith, V. Ricotti, S. McKee, 2008, Journal of Medical Genetics.