Variant detection sensitivity and biases in whole genome and exome sequencing

por Meynert, Alison M, Ansari, Morad, FitzPatrick, David R, Taylor, Martin S
Publicado 2014

Quantifying single nucleotide variant detection sensitivity in exome sequencing

por Meynert, Alison M, Bicknell, Louise S, Hurles, Matthew E, Jackson, Andrew P, Taylor, Martin S
Publicado 2013

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

por Handley, Mark T, Mégarbané, André, Meynert, Alison M, Brown, Stephen, Freyer, Elisabeth, Taylor, Martin S, Jackson, Ian J, Aligianis, Irene A
Publicado 2014

Heterochromatin delays CRISPR-Cas9 mutagenesis but does not influence the outcome of mutagenic DNA repair

por Kallimasioti-Pazi, Eirini M., Thelakkad Chathoth, Keerthi, Taylor, Gillian C., Meynert, Alison, Ballinger, Tracy, Kelder, Martijn J. E., Lalevée, Sébastien, Sanli, Ildem, Feil, Robert, Wood, Andrew J.
Publicado 2018

Enhanced response rate to pegylated liposomal doxorubicin in high grade serous ovarian carcinomas harbouring BRCA1 and BRCA2 aberrations

por Hollis, Robert L., Meynert, Alison M., Churchman, Michael, Rye, Tzyvia, Mackean, Melanie, Nussey, Fiona, Arends, Mark J., Sims, Andrew H., Semple, Colin A., Herrington, C. Simon, Gourley, Charlie
Publicado 2018

Clinical and molecular characterization of ovarian carcinoma displaying isolated lymph node relapse

por Hollis, Robert L., Carmichael, Juliet, Meynert, Alison M., Churchman, Michael, Hallas-Potts, Amelia, Rye, Tzyvia, MacKean, Melanie, Nussey, Fiona, Semple, Colin A., Herrington, C. Simon, Gourley, Charlie
Publicado 2019

Gorham-Stout case report: a multi-omic analysis reveals recurrent fusions as new potential drivers of the disease

por Yébenes Mayordomo, Marcos, Al Shboul, Sofian, Gómez-Herranz, Maria, Azfer, Asim, Meynert, Alison, Salter, Donald, Hayward, Larry, Oniscu, Anca, Patton, James T., Hupp, Ted, Arends, Mark J., Alfaro, Javier Antonio
Publicado 2022

Dynamic epigenetic changes to VHL occur with sunitinib in metastatic clear cell renal cancer

por Stewart, Grant D., Powles, Thomas, Van Neste, Christophe, Meynert, Alison, O'Mahony, Fiach, Laird, Alexander, Deforce, Dieter, Van Nieuwerburgh, Filip, Trooskens, Geert, Van Criekinge, Wim, De Meyer, Tim, Harrison, David J.
Publicado 2016

Integrated molecular characterisation of endometrioid ovarian carcinoma identifies opportunities for stratification

por Hollis, Robert L., Stanley, Barbara, Thomson, John P., Churchman, Michael, Croy, Ian, Rye, Tzyvia, Bartos, Clare, Nussey, Fiona, Mackean, Melanie, Meynert, Alison M., Semple, Colin A., Gourley, Charlie, Herrington, C. Simon
Publicado 2021

Molecular stratification of endometrioid ovarian carcinoma predicts clinical outcome

por Hollis, Robert L., Thomson, John P., Stanley, Barbara, Churchman, Michael, Meynert, Alison M., Rye, Tzyvia, Bartos, Clare, Iida, Yasushi, Croy, Ian, Mackean, Melanie, Nussey, Fiona, Okamoto, Aikou, Semple, Colin A., Gourley, Charlie, Herrington, C. Simon
Publicado 2020

Robust Genetic Analysis of the X-Linked Anophthalmic (Ie) Mouse

por Hernandez-Moran, Brianda A., Papanastasiou, Andrew S., Parry, David, Meynert, Alison, Gautier, Philippe, Grimes, Graeme, Adams, Ian R., Trejo-Reveles, Violeta, Bengani, Hemant, Keighren, Margaret, Jackson, Ian J., Adams, David J., FitzPatrick, David R., Rainger, Joe
Publicado 2022

CAG-encoded polyglutamine length polymorphism in the human genome

por Butland, Stefanie L, Devon, Rebecca S, Huang, Yong, Mead, Carri-Lyn, Meynert, Alison M, Neal, Scott J, Lee, Soo Sen, Wilkinson, Anna, Yang, George S, Yuen, Macaire MS, Hayden, Michael R, Holt, Robert A, Leavitt, Blair R, Ouellette, BF Francis
Publicado 2007

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

por Taylor, Rachel L., Handley, Mark T., Waller, Sarah, Campbell, Christopher, Urquhart, Jill, Meynert, Alison M., Ellingford, Jamie M., Donnelly, Deirdre, Wilcox, Gisela, Lloyd, I. Chris, Mundy, Helen, FitzPatrick, David R., Deshpande, Charu, Clayton-Smith, Jill, Black, Graeme C.
Publicado 2017

An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

por Kerr, Shona M., Klaric, Lucija, Halachev, Mihail, Hayward, Caroline, Boutin, Thibaud S., Meynert, Alison M., Semple, Colin A., Tuiskula, Annukka M., Swan, Heikki, Santoyo-Lopez, Javier, Vitart, Veronique, Haley, Chris, Dean, John, Miedzybrodzka, Zosia, Aitman, Timothy J., Wilson, James F.
Publicado 2019

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions

por Halachev, Mihail, Meynert, Alison, Taylor, Martin S., Vitart, Veronique, Kerr, Shona M., Klaric, Lucija, Aitman, Timothy J., Haley, Chris S., Prendergast, James G., Pugh, Carys, Hume, David A., Harris, Sarah E., Liewald, David C., Deary, Ian J., Semple, Colin A., Wilson, James F.
Publicado 2019

Distinct histopathological features are associated with molecular subtypes and outcome in low grade serous ovarian carcinoma

por Hollis, Robert L., Thomson, John P., van Baal, Juliette, Ilenkovan, Narthana, Churchman, Michael, van de Vijver, Koen, Dijk, Frederike, Meynert, Alison M., Bartos, Clare, Rye, Tzyvia, Croy, Ian, Diana, Patricia, van Gent, Mignon, Creedon, Helen, Nirsimloo, Rachel, Lok, Christianne, Gourley, Charlie, Herrington, C. Simon
Publicado 2023

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

por Handley, Mark T., Reddy, Kaalak, Wills, Jimi, Rosser, Elisabeth, Kamath, Archith, Halachev, Mihail, Falkous, Gavin, Williams, Denise, Cox, Phillip, Meynert, Alison, Raymond, Eleanor S., Morrison, Harris, Brown, Stephen, Allan, Emma, Aligianis, Irene, Jackson, Andrew P., Ramsahoye, Bernard H., von Kriegsheim, Alex, Taylor, Robert W., Finch, Andrew J., FitzPatrick, David R.
Publicado 2019

In Vivo Modeling of Patient Genetic Heterogeneity Identifies New Ways to Target Cholangiocarcinoma

por Younger, Nicholas T., Wilson, Mollie L., Martinez Lyons, Anabel, Jarman, Edward J., Meynert, Alison M., Grimes, Graeme R., Gournopanos, Konstantinos, Waddell, Scott H., Tennant, Peter A., Wilson, David H., Guest, Rachel V., Wigmore, Stephen J., Acosta, Juan Carlos, Kendall, Timothy J., Taylor, Martin S., Sproul, Duncan, Mill, Pleasantine, Boulter, Luke
Publicado 2022

Toll-like receptor 2 orchestrates a tumor suppressor response in non-small cell lung cancer

por Millar, Fraser R., Pennycuick, Adam, Muir, Morwenna, Quintanilla, Andrea, Hari, Priya, Freyer, Elisabeth, Gautier, Philippe, Meynert, Alison, Grimes, Graeme, Coll, Carla Salomo, Zdral, Sofia, Victorelli, Stella, Teixeira, Vitor H., Connelly, John, Passos, João F., Ros, Marian A., Wallace, William A.H., Frame, Margaret C., Sims, Andrew H., Boulter, Luke, Janes, Sam M., Wilkinson, Simon, Acosta, Juan Carlos
Publicado 2022

Multiomic Characterization of High-Grade Serous Ovarian Carcinoma Enables High-Resolution Patient Stratification

por Hollis, Robert L., Meynert, Alison M., Michie, Caroline O., Rye, Tzyvia, Churchman, Michael, Hallas-Potts, Amelia, Croy, Ian, McCluggage, W. Glenn, Williams, Alistair R.W., Bartos, Clare, Iida, Yasushi, Okamoto, Aikou, Dougherty, Brian, Barrett, J. Carl, March, Ruth, Matakidou, Athena, Roxburgh, Patricia, Semple, Colin A., Harkin, D. Paul, Kennedy, Richard, Herrington, C. Simon, Gourley, Charlie
Publicado 2022