List of works - Jamie M. Ellingford

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

scientific article published on 18 May 2022

A novel mutation in IL36RN underpins childhood pustular dermatosis

scientific article published on 16 February 2015

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

scientific article published on 26 October 2017

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

scientific article published on 18 October 2021

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

scientific article published on 20 January 2016

Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma

scientific article published on 28 September 2016

Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.

scientific article

Improving the clinical interpretation of missense variants in X linked genes using structural analysis

scientific article published on 25 March 2021

Molecular findings from 537 individuals with inherited retinal disease.

scientific article published on 11 May 2016

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility ⬇️

scientific article

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.

scientific article published on 9 May 2017

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

scientific article

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease

scientific article published on 21 March 2017

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

scientific article published on 20 April 2021

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

scientific article published in The Lancet

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.

scientific article

Validation of copy number variation analysis for next-generation sequencing diagnostics

scientific article published on 5 April 2017

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

scientific article published on 9 February 2016

List of works by Jamie M. Ellingford

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

A novel mutation in IL36RN underpins childhood pustular dermatosis

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma

Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.

Improving the clinical interpretation of missense variants in X linked genes using structural analysis

Molecular findings from 537 individuals with inherited retinal disease.

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility ⬇️

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.

Validation of copy number variation analysis for next-generation sequencing diagnostics

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.