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List of works by Amy Jayne McKnight

"Mitochondrial Toolbox" - A Review of Online Resources to Explore Mitochondrial Genomics

scientific article published on 08 May 2020

A GREM1 gene variant associates with diabetic nephropathy

scientific article

A Genome-Wide DNA Microsatellite Association Screen to Identify Chromosomal Regions Harboring Candidate Genes in Diabetic Nephropathy

article

A HuGE Review and Meta-Analyses of Genetic Associations in New Onset Diabetes after Kidney Transplantation

scientific article

A Validation Study of Vascular Cognitive Impairment Genetics Meta-Analysis Findings in an Independent Collaborative Cohort.

scientific article published on 15 June 2016

A quick reference guide for rare disease: supporting rare disease management in general practice

scientific article published on 30 April 2020

A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy

scientific article published on 27 September 2009

A scoping review and proposed workflow for multi-omic rare disease research

scientific article published on 28 April 2020

ANCA-associated vasculitis is linked to carriage of the Z allele of 1 antitrypsin and its polymers

scientific article published on 05 August 2011

An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases

scientific article

Analysis of single nucleotide polymorphisms implicate mTOR signalling in the development of new-onset diabetes after transplantation

scientific article published on 8 January 2016

Annotated chromosome maps for renal disease

scientific article published on March 2009

Association analysis of Notch pathway signalling genes in diabetic nephropathy

article

Association analysis of canonical Wnt signalling genes in diabetic nephropathy

scientific article

Association analysis of dyslipidemia-related genes in diabetic nephropathy

scientific article

Association analysis of proopiomelanocortin (POMC) haplotypes in type 1 diabetes in a UK population

scientific article published on 30 June 2011

Association of Caveolin-1 Gene Polymorphism With Kidney Transplant Fibrosis and Allograft Failure

scientific article published in The Journal of the American Medical Association

Association of MYH9/APOL1 with chronic kidney disease in a UK population

scientific article published on 17 July 2012

Association of VEGF-1499C→T polymorphism with diabetic nephropathy in type 1 diabetes mellitus

scientific article published on 01 July 2007

Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus

scientific article published on 11 December 2008

Association of microsatellite markers on chromosomes 6q27 region and 10p15 region with end-stage renal disease in a UK renal transplant population

scientific article published on 05 June 2009

Association testing of previously reported variants in a large case-control meta-analysis of diabetic nephropathy

scientific article

BACE1 polymorphisms do not influence platelet membrane beta-secretase activity or genetic susceptibility for Alzheimer's disease in the Northern Irish population

scientific article published on 26 June 2008

CD2AP is associated with end-stage renal disease in patients with type 1 diabetes

scientific article published on 17 May 2013

Candidate gene analysis of asthma in a population of Arab descent: a case-control study in Jordan

scientific article published on 30 November 2016

Carer reported experiences: Supporting someone with a rare disease

scientific article published on 07 May 2021

Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis

scientific article

Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes

scientific article

Communication Needs for Individuals With Rare Diseases Within and Around the Healthcare System of Northern Ireland

scientific article published on 21 August 2019

Communication strategies for rare cancers: a systematic review protocol

scientific article published on 23 April 2019

Comparative analysis of DNA methylation profiles in peripheral blood leukocytes versus lymphoblastoid cell lines.

scientific article

Comprehensive investigation of the caveolin 2 gene: resequencing and association for kidney transplant outcomes

scientific article

Contribution of cystatin C- and creatinine-based definitions of chronic kidney disease to cardiovascular risk assessment in 20 population-based and 3 disease cohorts: the BiomarCaRE project

scientific article published on 09 November 2020

DNA Methylation Associated With Diabetic Kidney Disease in Blood-Derived DNA

scientific article published on 15 October 2020

DNA hypermethylation and DNA hypomethylation is present at different loci in chronic kidney disease

scientific article

Design and implementation of a custom next generation sequencing panel for selected vitamin D associated genes

scientific article

Development of next generation sequencing panel for UMOD and association with kidney disease.

scientific article

Differential methylation as a diagnostic biomarker of rare renal diseases: a systematic review

scientific article published on 16 August 2019

Differential methylation in rare ophthalmic disorders: a systematic review protocol

article

Distinct methylation patterns in genes that affect mitochondrial function are associated with kidney disease in blood-derived DNA from individuals with Type 1 diabetes

scientific article published on 10 May 2015

Donor ABCB1 variant associates with increased risk for kidney allograft failure

scientific article

Epigenetics: time to translate into transplantation

scientific article published on July 2012

Epigenome-wide association study for Parkinson's disease.

scientific article

Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans

scientific article published on 16 June 2010

Gene discovery in diabetic nephropathy

scientific article published on April 2007

Genetic Evidence for a Causal Role of Obesity in Diabetic Kidney Disease

scientific article

Genetic Polymorphisms in Nitric Oxide Synthase 3 Gene and Implications for Kidney Disease: A Meta-Analysis

article

Genetic Strategies to Understand Human Diabetic Nephropathy: In Silico Strategies for Molecular Data-Association Studies

scientific article published on 01 January 2020

Genetic Strategies to Understand Human Diabetic Nephropathy: Wet-Lab Approaches

scientific article published on 01 January 2020

Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle.

scientific article published on 31 May 2019

Genetic analysis of coronary artery disease single-nucleotide polymorphisms in diabetic nephropathy

scientific article

Genetic and epigenetic factors influencing chronic kidney disease

scientific article

Genetic and epigenetic risk factors for diabetic kidney disease

scientific article published on May 2014

Genetic association analyses of non-synonymous single nucleotide polymorphisms in diabetic nephropathy.

scientific article published on 05 September 2008

Genetic associations between genes in the renin-angiotensin-aldosterone system and renal disease: a systematic review and meta-analysis

article

Genetic examination of SETD7 and SUV39H1/H2 methyltransferases and the risk of diabetes complications in patients with type 1 diabetes

scientific article

Genetic polymorphisms and kidney transplant outcomes

scientific article

Genetic risk factors affecting mitochondrial function are associated with kidney disease in people with Type 1 diabetes.

scientific article published on 13 April 2015

Genetic studies of body mass index yield new insights for obesity biology

scientific article

Genetics of diabetic nephropathy: a long road of discovery.

scientific article published on July 2015

Genetics of new-onset diabetes after transplantation

scientific article published on 05 December 2013

Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen

scientific article published on 19 September 2019

Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

scientific article published on 26 August 2020

Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes

article by Niina Sandholm et al published 5 March 2014 in Diabetologia

Genome-wide association study on coronary artery disease in type 1 diabetes suggests beta-defensin 127 as a risk locus

scientific article published on 20 February 2020

Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection

scientific article published on 01 May 2019

Good communication is critical to supporting people living and working with a rare disease: current rare disease support perceived as inadequate.

scientific article published on 25 May 2020

Haplotype association analysis of genes within the WNT signalling pathways in diabetic nephropathy

scientific article

Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate

scientific article published on 09 November 2020

Information on Genetic Variants Does Not Increase Identification of Individuals at Risk of Esophageal Adenocarcinoma Compared to Clinical Risk Factors

scientific article published on 19 September 2018

Investigation of DNA polymorphisms in SMAD genes for genetic predisposition to diabetic nephropathy in patients with type 1 diabetes mellitus

scientific article published on 27 February 2009

Multiple superoxide dismutase 1/splicing factor serine alanine 15 variants are associated with the development and progression of diabetic nephropathy: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complicat

scientific article published on 03 October 2007

New genetic loci link adipose and insulin biology to body fat distribution

scientific article

New susceptibility loci associated with kidney disease in type 1 diabetes

scientific article

Next-generation sequencing of the mitochondrial genome and association with IgA nephropathy in a renal transplant population.

scientific article published on 9 December 2014

No support for association of protein kinase C, beta 1 (PRKCB1) gene promoter polymorphisms c.-1504C>T and c.-546C>G with diabetic nephropathy in Type 1 diabetes.

scientific article

Novel genetic susceptibility loci for diabetic end-stage renal disease identified through robust naive Bayes classification

scientific article published on 29 May 2014

Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes.

scientific article

Polygenic risk score as a determinant of risk of non-melanoma skin cancer in a European-descent renal transplant cohort

scientific article published on 05 September 2018

Polymorphisms of the macrophage migration inhibitory factor gene in a UK population with Type 1 diabetes mellitus

scientific article published in February 2010

Protocol for a scoping review of multi-omic analysis for rare diseases

article

Replication studies based on findings from a genome-wide DNA microsatellite screen in diabetic nephropathy

scientific article published on 29 May 2009

Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy

scientific article

Resequencing of the CCL5 and CCR5 genes and investigation of variants for association with diabetic nephropathy

article

Resequencing of the characterised CTGF gene to identify novel or known variants, and analysis of their association with diabetic nephropathy

article

Role of alpha-adducin DNA polymorphisms in the genetic predisposition to diabetic nephropathy

scientific article published on 8 June 2004

SNP in the genome-wide association study hotspot on chromosome 9p21 confers susceptibility to diabetic nephropathy in type 1 diabetes

scientific article published on 29 May 2012

SORBS1 gene, a new candidate for diabetic nephropathy: results from a multi-stage genome-wide association study in patients with type 1 diabetes

scientific article

Socioeconomic position, lifestyle habits and biomarkers of epigenetic aging: a multi-cohort analysis

article published in 2019

Systematic review of differential methylation in rare ophthalmic diseases

scientific article published on 13 November 2019

Targeted genome-wide investigation identifies novel SNPs associated with diabetic nephropathy

scientific article published on December 2009

The Challenges of Chromosome Y Analysis and the Implications for Chronic Kidney Disease

scientific article published on 04 September 2019

The Genetic Landscape of Renal Complications in Type 1 Diabetes

scientific article

The changing landscape of diabetic kidney disease: new reflections on phenotype, classification, and disease progression to influence future investigative studies and therapeutic trials

scientific article published in May 2014

The coronary artery disease SNP, rs4420638, is associated with diabetic nephropathy rather than end-stage renal disease

scientific article published on 23 April 2009

The impact of donor and recipient common clinical and genetic variation on estimated glomerular filtration rate in a European renal transplant population

scientific article published on 28 March 2019

The power of genetic diversity in genome-wide association studies of lipids

Unravelling the genetic basis of renal diseases; from single gene to multifactorial disorders

scientific article published on January 2010

Validation of differentially methylated microRNAs identified from an epigenome-wide association study; Sanger and next generation sequencing approaches

scientific article published on 29 October 2018

Variation in RTN3 and PPIL2 genes does not influence platelet membrane beta-secretase activity or susceptibility to alzheimer's disease in the northern Irish population

scientific article published in January 2009

Vitamin D Receptor Gene Variants and Esophageal Adenocarcinoma Risk: A Population-Based Case–Control Study

article

Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.

scientific article published on 18 September 2014

β Cell Glucotoxic-Associated Single Nucleotide Polymorphisms in Impaired Glucose Tolerance and New-Onset Diabetes After Transplantation

scientific article published on 01 August 2014

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