Publications

Rainger J et al., A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. (2017) Human Mutation. Pubmed [Radio interview and press-release].

Shaw N, et al. Mutations in SMCHD1 are Associated with Isolated Arhinia, Bosma Arhinia Microphthalmia Syndrome, and Facioscapulohumeral Muscular Dystrophy Type 2 (2017) Nature Genetics. Pubmed

McEntagart M, et al. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant Negative Effect. (2016) The American Journal of Human GeneticsPubmed

Liu C, et al. A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. (2016) Human Molecular Genetics. Pubmed

Rainger J et al, Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (2014) The American Journal of Human GeneticsPubmed

Cross SH et al, A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LBD1-mediated dimerisation. (2014) PLoS GeneticsPubmed

Williamson KA*, Rainger J* et al, Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects. (2014) The American Journal of Human Genetics. (*joint 1st authors) Pubmed

Rainger JKRainger JK et al, Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. Human Molecular Genetics (2014). et al, Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. Human Molecular Genetics (2014). Pubmed

Rainger J et al, A trans-acting protein effect causes severe eye malformation in the Mp mouse. (2013) PLoS GeneticsPubmed

Rainger J et al, Miller syndrome (Genée-Wiedemann) represents a distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. (2012) Human Molecular Genetic. Pubmed

Rainger J, et al, Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. (2011) PLoS GeneticsPubmed

Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR. Mutations in SOX2 Cause Anophthalmia-Esophageal-Genital (AEG) Syndrome. (2006) Human Molecular GeneticsPubmed

Rainger J, Fitzpatrick DR; and van Heyningen V. Patterns of Development: Development of the Eye. (2008) In: Epstein C, Erickson R, and Wynshaw-Boris, A. Inborn Errors of Development 2nd Edition. New York: Oxford University Press