List of works - Robyn V Jamieson

A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding

scientific article

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

scientific article published on 10 April 2019

Acetazolamide in retinoschisis: a prospective study.

scientific article published on 2 December 2013

Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis

scientific article

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

scientific article

Changing patterns in paediatric optic atrophy aetiology: 1979 to 2015.

scientific article published on March 2016

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.

scientific article published in October 2007

Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma

scientific article published on August 2008

Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata

scientific article published on June 2009

Congenital iris ectropion as an indicator of variant aniridia

scientific article published on May 2006

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

scientific article published in August 2006

Detection of chromosomal breakpoints in patients with developmental delay and speech disorders

scientific article

Dkk1 and Wnt3 interact to control head morphogenesis in the mouse

scientific article

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

scientific article

Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development

scientific article

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

scientific article

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

scientific article

Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature

article

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

scientific article

Management of intraoperative tilting of the scleral-fixated intraocular lens in classical aniridia

scientific article published on September 2007

Masquerade macular exudation in Mallatia Leventinese

scientific article published on 01 February 2016

Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum

scientific article published in December 2013

NMNAT1 variants cause cone and cone-rod dystrophy

scientific article published on 28 November 2017

Novel SOX2 partner-factor domain mutation in a four-generation family

scientific article

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

scientific article published on 18 January 2012

PAX6Mutations May Be Associated with High Myopia

scholarly article by Alex W. Hewitt et al published January 2007 in Ophthalmic Genetics

Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis

scientific article published on 21 September 2018

Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome

scientific article published in August 2009

Primary congenital glaucoma outcomes: lessons from 23 years of follow-up

scientific article published on 26 January 2015

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

scientific article published on 05 June 2020

Secondary glaucoma after paediatric cataract surgery

scientific article

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing

scientific article published on 23 December 2015

The importance of electrophysiology in revealing a complete homozygous deletion of KCNV2.

scientific article published on 7 November 2013

List of works by Robyn V Jamieson

A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

Acetazolamide in retinoschisis: a prospective study.

Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

Changing patterns in paediatric optic atrophy aetiology: 1979 to 2015.

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.

Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma

Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata

Congenital iris ectropion as an indicator of variant aniridia

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

Detection of chromosomal breakpoints in patients with developmental delay and speech disorders

Dkk1 and Wnt3 interact to control head morphogenesis in the mouse

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

Management of intraoperative tilting of the scleral-fixated intraocular lens in classical aniridia

Masquerade macular exudation in Mallatia Leventinese

Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum

NMNAT1 variants cause cone and cone-rod dystrophy

Novel SOX2 partner-factor domain mutation in a four-generation family

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

PAX6Mutations May Be Associated with High Myopia

Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis

Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome

Primary congenital glaucoma outcomes: lessons from 23 years of follow-up

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Secondary glaucoma after paediatric cataract surgery

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing

The importance of electrophysiology in revealing a complete homozygous deletion of KCNV2.