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List of works by Jane Gibson

A SNP profiling panel for sample tracking in whole-exome sequencing studies.

scientific article published on 27 September 2013

A map of the human genome in linkage disequilibrium units.

scientific article

A rare penetrant TIMP3 mutation confers relatively late onset choroidal neovascularisation which can mimic age-related macular degeneration

scientific article published on 23 October 2015

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

scientific article published on 13 September 2019

CBL-MZ is not a single biological entity: evidence from genomic analysis and prolonged clinical follow-up

scientific article published on 01 May 2018

Clinical Implications of Old and New Genes for Open-Angle Glaucoma

article

Composite likelihood-based meta-analysis of breast cancer association studies.

scientific article published on 10 March 2011

Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients

article

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

scientific article published on 26 July 2016

Determination of a gene and environment risk model for age-related macular degeneration.

scientific article published on 24 June 2010

Distinctive genotypes in infants with T-cell acute lymphoblastic leukaemia.

scientific article published on 24 July 2015

Eggplant Domestication: Pervasive Gene Flow, Feralization, and Transcriptomic Divergence

scientific article published on 01 July 2019

Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies.

scientific article published on 7 May 2015

Exome Sequencing in Classic Hairy Cell Leukaemia Reveals Widespread Variation in Acquired Somatic Mutations between Individual Tumours Apart from the Signature BRAF V(600)E Lesion.

scientific article published on 12 February 2016

Exome analysis of patients with concurrent pediatric inflammatory bowel disease and autoimmune disease.

scientific article published on June 2015

Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.

scientific article published in December 2013

Exome sequence read depth methods for identifying copy number changes

scientific article

Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease.

scientific article published on 4 November 2012

Genetic variants within chromosome 4q28.3 are not reproducibly associated with Age-related Macular Degeneration (AMD)

scientific article published on 25 August 2010

Genome-wide association study of primary open angle glaucoma risk and quantitative traits ⬇️

scientific article published on April 28, 2012

Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia.

scientific article published on 10 June 2016

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

scientific article published on 30 June 2017

Individual disease risk and multimetric analysis of Crohn disease.

scholarly article

Longitudinal copy number, whole exome and targeted deep sequencing of 'good risk' IGHV-mutated CLL patients with progressive disease

scientific article published on 5 February 2016

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations

scientific article

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis

scientific article published on 26 November 2008

Pharmacogenetic associations with vascular endothelial growth factor inhibition in participants with neovascular age-related macular degeneration in the IVAN Study.

scientific article published on 23 September 2013

Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients.

scientific article published on May 2009

Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.

scientific article published on 6 January 2015

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma

scientific article published on 18 July 2019

The optimal measure of linkage disequilibrium reduces error in association mapping of affection status

scientific article published on 17 November 2004

VEGFR2 Gene Polymorphisms and Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration.

scientific article published on 28 May 2015

Variation in complement component C1 inhibitor in age-related macular degeneration

scientific article published on 23 July 2011

Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma

scientific article (publication date: 2013)

Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations

scientific article published on 3 September 2015

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