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Tony Moore

University College London

10

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481

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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

2016
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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

2016 Acta Ophthalmologica
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Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

2015 American Journal of Human Genetics
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Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies

1999 Journal of Medical Genetics
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Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

1999 Human Genetics
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Segregation of a PRKCG mutation in two RP11 families.

1998 American Journal of Human Genetics
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Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.

1996 American Journal of Human Genetics
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Citations (55)