Needs of informal caregivers of people with a rare disease: a rapid review of the literature

por Mcmullan, Julie, Lohfeld, Lynne, McKnight, Amy Jayne
Publicado 2022

Differential methylation in rare ophthalmic disorders: a systematic review protocol

por Kerr, Katie, McAneney, Helen, McKnight, Amy Jayne
Publicado 2019

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

por Kerr, Katie, McAneney, Helen, McKnight, Amy Jayne
Publicado 2019

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

por Benson, Katherine Angela, Maxwell, Alexander Peter, McKnight, Amy Jayne
Publicado 2016

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

por Crowe, Ashleen L., McKnight, Amy Jayne, McAneney, Helen
Publicado 2019

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

por Bailie, Caitlin, Kilner, Jill, Maxwell, Alexander P., McKnight, Amy Jayne
Publicado 2017

“Mitochondrial Toolbox” – A Review of Online Resources to Explore Mitochondrial Genomics

por Cappa, Ruaidhri, de Campos, Cassio, Maxwell, Alexander P., McKnight, Amy J.
Publicado 2020

Evaluating the impact of COVID-19 on rare disease support groups

por McMullan, Julie, Crowe, Ashleen L., Bailie, Caitlin, McKnight, Amy Jayne
Publicado 2021

Criteria to define rare diseases and orphan drugs: a systematic review protocol

por Abozaid, Ghada Mohammed, Kerr, Katie, McKnight, Amy, Al-Omar, Hussain A
Publicado 2022

Harnessing Genomic Analysis to Explore the Role of Telomeres in the Pathogenesis and Progression of Diabetic Kidney Disease

por Hill, Claire, Duffy, Seamus, Coulter, Tiernan, Maxwell, Alexander Peter, McKnight, Amy Jayne
Publicado 2023

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

por Kerr, Katie, McAneney, Helen, Flanagan, Cheryl, Maxwell, Alexander P., McKnight, Amy Jayne
Publicado 2019

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

por Anderson, Kerry, Cañadas-Garre, Marisa, Chambers, Robyn, Maxwell, Alexander Peter, McKnight, Amy Jayne
Publicado 2019

Harnessing the Full Potential of Multi-Omic Analyses to Advance the Study and Treatment of Chronic Kidney Disease

por Hill, Claire, Avila-Palencia, Ione, Maxwell, Alexander Peter, Hunter, Ruth F., McKnight, Amy Jayne
Publicado 2022

Resequencing of genes for transforming growth factor β1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy

por McKnight, Amy Jayne, Savage, David A, Patterson, Chris C, Sadlier, Denise, Maxwell, A Peter
Publicado 2007

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

por Smyth, Laura Jane, Cañadas-Garre, Marisa, Cappa, Ruaidhri C, Maxwell, Alexander P, McKnight, Amy Jayne
Publicado 2019

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

por Smyth, Laura J., Patterson, Christopher C., Swan, Elizabeth J., Maxwell, Alexander P., McKnight, Amy Jayne
Publicado 2020

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

por Kerr, Katie, McAneney, Helen, Smyth, Laura J., Bailie, Caitlin, McKee, Shane, McKnight, Amy Jayne
Publicado 2020

Communication strategies for rare cancers: a systematic review protocol

por Bell, Catherine, Kerr, Katie, Moore, Kerry, McShane, Charlene, Anderson, Lesley, McKnight, Amy Jayne, McAneney, Helen
Publicado 2019

Association Analysis of Dyslipidemia-Related Genes in Diabetic Nephropathy

por McKay, Gareth J., Savage, David A., Patterson, Christopher C., Lewis, Gareth, McKnight, Amy Jayne, Maxwell, Alexander P.
Publicado 2013

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

por Douglas, Adam P., Vance, Dwaine R., Kenny, Elaine M., Morris, Derek W., Maxwell, Alexander P., McKnight, Amy Jayne
Publicado 2014