Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing

por Rowlands, Charlie F, Baralle, Diana, Ellingford, Jamie M
Publicado 2019

Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance

por Ellingford, Jamie M., Hufnagel, Robert B., Arno, Gavin
Publicado 2020

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders

por Green, David J., Sallah, Shalaw R., Ellingford, Jamie M., Lovell, Simon C., Sergouniotis, Panagiotis I.
Publicado 2020

Improving the clinical interpretation of missense variants in X linked genes using structural analysis

por Sallah, Shalaw Rassul, Ellingford, Jamie M, Sergouniotis, Panagiotis I, Ramsden, Simon C, Lench, Nicholas, Lovell, Simon C, Black, Graeme C
Publicado 2022

North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants

por Green, David J., Lenassi, Eva, Manning, Cerys S., McGaughey, David, Sharma, Vinod, Black, Graeme C., Ellingford, Jamie M., Sergouniotis, Panagiotis I.
Publicado 2021

A Nonadaptive Combinatorial Group Testing Strategy to Facilitate Health Care Worker Screening during the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak

por McDermott, John H., Stoddard, Duncan, Woolf, Peter J., Ellingford, Jamie M., Gokhale, David, Taylor, Algy, Demain, Leigh A.M., Newman, William G., Black, Graeme
Publicado 2021

Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission

por Ellingford, Jamie M, George, Ryan, McDermott, John H, Ahmad, Shazaad, Edgerley, Jonathan J, Gokhale, David, Newman, William G, Ball, Stephen, Machin, Nicholas, Black, Graeme CM
Publicado 2021

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar

por Sallah, Shalaw R., Sergouniotis, Panagiotis I., Barton, Stephanie, Ramsden, Simon, Taylor, Rachel L., Safadi, Amro, Kabir, Mitra, Ellingford, Jamie M., Lench, Nick, Lovell, Simon C., Black, Graeme C. M.
Publicado 2020

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity

por Sergouniotis, Panagiotis I., Barton, Stephanie J., Waller, Sarah, Perveen, Rahat, Ellingford, Jamie M., Campbell, Christopher, Hall, Georgina, Gillespie, Rachel L., Bhaskar, Sanjeev S., Ramsden, Simon C., Black, Graeme C., Lovell, Simon C.
Publicado 2016

Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability

por Evans, D. Gareth, van Veen, Elke M., Woodward, Emma R., Harkness, Elaine F., Ellingford, Jamie M., Bowers, Naomi L., Wallace, Andrew J., Howell, Sacha J., Howell, Anthony, Lalloo, Fiona, Newman, William G., Smith, Miriam J.
Publicado 2021

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

por Rowlands, Charlie F., Taylor, Algy, Rice, Gillian, Whiffin, Nicola, Hall, Hildegard Nikki, Newman, William G., Black, Graeme C.M., O’Keefe, Raymond T., Hubbard, Simon, Douglas, Andrew G.L., Baralle, Diana, Briggs, Tracy A., Ellingford, Jamie M.
Publicado 2022

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

por Best, Sunayna, Lord, Jenny, Roche, Matthew, Watson, Christopher M, Poulter, James A, Bevers, Roel P J, Stuckey, Alex, Szymanska, Katarzyna, Ellingford, Jamie M, Carmichael, Jenny, Brittain, Helen, Toomes, Carmel, Inglehearn, Chris, Johnson, Colin A, Wheway, Gabrielle
Publicado 2022

A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

por Evans, D.Gareth R., van Veen, Elke M., Byers, Helen J., Wallace, Andrew J., Ellingford, Jamie M., Beaman, Glenda, Santoyo-Lopez, Javier, Aitman, Timothy J., Eccles, Diana M., Lalloo, Fiona I., Smith, Miriam J., Newman, William G.
Publicado 2018

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

por Jiman, Omamah A., Taylor, Rachel L., Lenassi, Eva, Smith, Jill Clayton, Douzgou, Sofia, Ellingford, Jamie M., Barton, Stephanie, Hardcastle, Claire, Fletcher, Tracy, Campbell, Christopher, Ashworth, Jane, Biswas, Susmito, Ramsden, Simon C., Manson, Forbes D., Black, Graeme C.
Publicado 2019

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

Extended gene panel testing in lobular breast cancer

por van Veen, Elke M., Evans, D. Gareth, Harkness, Elaine F., Byers, Helen J., Ellingford, Jamie M., Woodward, Emma R., Bowers, Naomi L., Wallace, Andrew J., Howell, Sacha J., Howell, Anthony, Lalloo, Fiona, Newman, William G., Smith, Miriam J.
Publicado 2021

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

por Ellingford, Jamie M, Horn, Bradley, Campbell, Christopher, Arno, Gavin, Barton, Stephanie, Tate, Catriona, Bhaskar, Sanjeev, Sergouniotis, Panagiotis I, Taylor, Rachel L, Carss, Keren J, Raymond, Lucy F L, Michaelides, Michel, Ramsden, Simon C, Webster, Andrew R, Black, Graeme C M
Publicado 2018

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

por Lenassi, Eva, Carvalho, Ana, Thormann, Anja, Abrahams, Liam, Arno, Gavin, Fletcher, Tracy, Hardcastle, Claire, Lopez, Javier, Hunt, Sarah E, Short, Patrick, Sergouniotis, Panagiotis I, Michaelides, Michel, Webster, Andrew, Cunningham, Fiona, Ramsden, Simon C, Kasperaviciute, Dalia, Fitzpatrick, David R, Black, Graeme C, Ellingford, Jamie M
Publicado 2023

Molecular findings from 537 individuals with inherited retinal disease

por Ellingford, Jamie M, Barton, Stephanie, Bhaskar, Sanjeev, O'Sullivan, James, Williams, Simon G, Lamb, Janine A, Panda, Binay, Sergouniotis, Panagiotis I, Gillespie, Rachel L, Daiger, Stephen P, Hall, Georgina, Gale, Theodora, Lloyd, I Christopher, Bishop, Paul N, Ramsden, Simon C, Black, Graeme C M
Publicado 2016

Clinical and genetic variability in children with partial albinism

por Campbell, Patrick, Ellingford, Jamie M., Parry, Neil R. A., Fletcher, Tracy, Ramsden, Simon C., Gale, Theodora, Hall, Georgina, Smith, Katherine, Kasperaviciute, Dalia, Thomas, Ellen, Lloyd, I. Chris, Douzgou, Sofia, Clayton-Smith, Jill, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C. M., Sergouniotis, Panagiotis I.
Publicado 2019