M. O’Sullivan

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

M. Bitner-Glindzicz, F. Baas, H. Williams, 2014, American journal of human genetics.

Erratum: The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Colin A. Johnson, M. Hubank, E. Stupka, 2016, Journal of Medical Genetics.

Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss

M. Bitner-Glindzicz, S. Rahman, E. Ashton, 2014, Human molecular genetics.