List of works - Annette M Payne

A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.

scientific article

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 ⬇️

scientific article published on February 1, 1998

Autosomal Dominant Cone-Rod Dystrophy With Mutations in the Guanylate Cyclase 2D Gene Encoding Retinal Guanylate Cyclase-1 ⬇️

scientific article published on November 1, 2001

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

scientific article

Comparative (computational) analysis of the DNA methylation status of trinucleotide repeat expansion diseases.

scientific article published on 23 December 2013

Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY ⬇️

scientific article published on October 1, 1998

Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.

scientific article published in January 1998

Further refinement of the Usher 2A locus at 1q41

scientific article

GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy

scientific article

Genome wide classification and characterisation of CpG sites in cancer and normal cells

scientific article published on 23 October 2015

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

scientific article

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

scientific article

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

scientific article published in July 1998

Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene

scientific article (publication date: June 2003)

Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin.

scientific article published in August 1999

Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. Online

scientific article published on 01 January 1999

List of works by Annette M Payne

A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 ⬇️

Autosomal Dominant Cone-Rod Dystrophy With Mutations in the Guanylate Cyclase 2D Gene Encoding Retinal Guanylate Cyclase-1 ⬇️

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

Comparative (computational) analysis of the DNA methylation status of trinucleotide repeat expansion diseases.

Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY ⬇️

Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.

Further refinement of the Usher 2A locus at 1q41

GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy

Genome wide classification and characterisation of CpG sites in cancer and normal cells

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene

Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin.

Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. Online