Human Chondrocytes Respond Discordantly to the Protein Encoded by the Osteoarthritis Susceptibility Gene GDF5

por Ratnayake, Madhushika, Plöger, Frank, Santibanez-Koref, Mauro, Loughlin, John
Publicado 2014

Circulating cell-free mitochondrial DNA levels in Parkinson’s disease are influenced by treatment

por Lowes, Hannah, Pyle, Angela, Santibanez-Koref, Mauro, Hudson, Gavin
Publicado 2020

Functional Characterization of the Osteoarthritis Susceptibility Mapping to CHST11—A Bioinformatics and Molecular Study

por Reynard, Louise N., Ratnayake, Madhushika, Santibanez-Koref, Mauro, Loughlin, John
Publicado 2016

Association of stroke and bleed events in non-valvular atrial fibrillation patients with direct oral anticoagulant prescriptions in NHS England between 2013 and 2016

por Sheth, Harsh, McNally, Daniel, Santibanez-Koref, Mauro, Burn, John
Publicado 2019

Inhibition of O(6)-methylguanine-DNA methyltransferase by an alkyltransferase-like protein from Escherichia coli

por Pearson, Steven J., Ferguson, Jennifer, Santibanez-Koref, Mauro, Margison, Geoffrey P.
Publicado 2005

Comparing Methods for Mapping cis Acting Polymorphisms Using Allelic Expression Ratios

por Teare, Marion Dawn, Pinyakorn, Suteeraporn, Heighway, James, Santibanez Koref, Mauro F.
Publicado 2011

Finding genes that influence quantitative traits with tree-based clustering

por Wilson, Ian J, Howey, Richard AJ, Houniet, Darren T, Santibanez-Koref, Mauro
Publicado 2011

Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression

por Cunnington, Michael S., Santibanez Koref, Mauro, Mayosi, Bongani M., Burn, John, Keavney, Bernard
Publicado 2010

Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3

por Ratnayake, Madhushika, Reynard, Louise N, Raine, Emma VA, Santibanez-Koref, Mauro, Loughlin, John
Publicado 2012

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

por Santibanez-Koref, Mauro, Griffin, Helen, Turnbull, Douglass M., Chinnery, Patrick F., Herbert, Mary, Hudson, Gavin
Publicado 2019

PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events

por Izuogu, Osagie G., Alhasan, Abd A., Alafghani, Hani M., Santibanez-Koref, Mauro, Elliot, David J., Jackson, Michael S.
Publicado 2016

Erratum to: PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events

por Izuogu, Osagie G., Alhasan, Abd A., Alafghani, Hani M., Santibanez-Koref, Mauro, Elliott, David J., Jackson, Michael S.
Publicado 2016

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

por Pyle, Angela, Hudson, Gavin, Wilson, Ian J., Coxhead, Jonathan, Smertenko, Tania, Herbert, Mary, Santibanez-Koref, Mauro, Chinnery, Patrick F.
Publicado 2015

How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies

por Gallon, Richard, Gawthorpe, Peter, Phelps, Rachel L., Hayes, Christine, Borthwick, Gillian M., Santibanez-Koref, Mauro, Jackson, Michael S., Burn, John
Publicado 2021

Using population data for assessing next-generation sequencing performance

por Houniet, Darren T., Rahman, Thahira J., Al Turki, Saeed, Hurles, Matthew E., Xu, Yaobo, Goodship, Judith, Keavney, Bernard, Santibanez Koref, Mauro
Publicado 2015

Impact of Month of Birth on the Risk of Development of Autoimmune Addison's Disease

por Pazderska, Agnieszka, Fichna, Marta, Mitchell, Anna L., Napier, Catherine M., Gan, Earn, Ruchała, Marek, Santibanez-Koref, Mauro, Pearce, Simon H.
Publicado 2016

Feasibility and impact of haplogroup matching for mitochondrial replacement treatment

por Takeda, Yuko, Hyslop, Louise, Choudhary, Meenakshi, Robertson, Fiona, Pyle, Angela, Wilson, Ian, Santibanez‐Koref, Mauro, Turnbull, Douglass, Herbert, Mary, Hudson, Gavin
Publicado 2023

Using MRI to predict future adverse cardiac remodelling in a male mouse model of myocardial infarction

por Redgrave, Rachael E., Tual-Chalot, Simon, Davison, Benjamin J., Greally, Elizabeth, Santibanez-Koref, Mauro, Schneider, Jurgen E., Blamire, Andrew M., Arthur, Helen M.
Publicado 2016

Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission

por Arefi, Majid, Wilson, Valerie, Muthiah, Siobhan, Zwolinski, Simon, Bajwa, Dalvir, Brennan, Paul, Blasdale, Katie, Bourn, David, Burn, John, Santibanez-Koref, Mauro, Rajan, Neil
Publicado 2019

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

por Payne, Brendan A I, Wilson, Ian J, Hateley, Charlotte A, Horvath, Rita, Santibanez-Koref, Mauro, Samuels, David C, Price, D Ashley, Chinnery, Patrick F
Publicado 2011