Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Ellen R A Thomas"'
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Akademický článek
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery
Autor: Katherine S. Josephs, Eleanor G. Seaby, Philippa May, Pantazis Theotokis, Jing Yu, Avgi Andreou, Hannah Sinclair, Deborah Morris-Rosendahl, Ellen R. A. Thomas, Sarah Ennis, Angharad M. Roberts, James S. Ware
Publikováno v: Genome Medicine, Vol 16, Iss 1, Pp 1-22 (2024)
Abstract Background Cardiomyopathies are clinically important conditions, with a strong genetic component. National genomic initiatives such as 100,000 Genome Project (100KGP) provide opportunity to study these rare conditions at scale beyond convent
Externí odkaz: https://doaj.org/article/b985ecbe203c455f8e325fbb9ff526b4
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2
Author response for 'Biallelic TMEM260 variants cause Truncus Arteriosus, with or without renal defects'
Autor: null Alistair T. Pagnamenta, null Adam Jackson, null Rahat Perveen, null Glenda Beaman, null Gemma Petts, null Asheeta Gupta, null Zerin Hyder, null Brian Hon‐Yin Chung, null Anita Sik‐Yau Kan, null Ka Wang Cheung, null Wilhelmina S. Kerstjens‐Frederikse, null Kristin M. Abbott, null John C. Ambrose, null Prabhu Arumugam, null Roel Bevers, null Marta Bleda, null Freya Boardman‐Pretty, null Christopher R. Boustred, null Helen Brittain, null Mark J. Caulfield, null Georgia C. Chan, null Greg Elgar, null Tom Fowler, null Adam Giess, null Angela Hamblin, null Shirley Henderson, null Tim J. P. Hubbard, null Rob Jackson, null Louise J. Jones, null Dalia Kasperaviciute, null Melis Kayikci, null Athanasios Kousathanas, null Lea Lahnstein, null Sarah E. A. Leigh, null Ivonne U. S. Leong, null Javier F. Lopez, null Fiona Maleady‐Crowe, null Meriel McEntagart, null Federico Minneci, null Loukas Moutsianas, null Michael Mueller, null Nirupa Murugaesu, null Anna C. Need, null Peter O′Donovan, null Chris A. Odhams, null Christine Patch, null Mariana Buongermino Pereira, null Daniel Perez‐Gil, null John Pullinger, null Tahrima Rahim, null Augusto Rendon, null Tim Rogers, null Kevin Savage, null Kushmita Sawant, null Richard H. Scott, null Afshan Siddiq, null Alexander Sieghart, null Samuel C. Smith, null Alona Sosinsky, null Alexander Stuckey, null Mélanie Tanguy, null Ana Lisa Taylor Tavares, null Ellen R. A. Thomas, null Simon R. Thompson, null Arianna Tucci, null Matthew J. Welland, null Eleanor Williams, null Katarzyna Witkowska, null Suzanne M. Wood, null Orly Elpeleg, null Jenny C. Taylor, null Siddharth Banka, null Asaf Ta‐Shma, null Genomics England Research Consortium
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::538351116d337271a32222545c4dbf6b
https://doi.org/10.1111/cge.14071/v2/response1
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3
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Autor: Augusto Rendon, A. Kousathanas, S. E. A. Leigh, D. Kasperaviciute, R. Jackson, J. Pullinger, Richard H. Scott, T. Rahim, Graeme C.M. Black, C. A. Odhams, Simon C Ramsden, A. Siddiq, L. Lahnstein, S. R. Thompson, Huw B. Thomas, Jenny Lord, M. Bleda, M. J. Welland, L. Moutsianas, A. Giess, Jill Clayton-Smith, A. Stuckey, Panagiotis I. Sergouniotis, H. Brittain, K. Sawant, Arianna Tucci, A. Sosinsky, I. U. S. Leong, Nicole Gossan, William G. Newman, Christopher Campbell, Mark J. Caulfield, T. Rogers, Diana Baralle, Andrew G. L. Douglas, A. L. Taylor Tavares, N. Murugaesu, Gavin Arno, S. M. Wood, Louise J. Jones, Robert A. Hirst, Htoo A Wai, A. Hamblin, Glenda M. Beaman, P. O’Donovan, A. Sieghart, F. Maleady-Crowe, S. Henderson, M. Tanguy, Claire Hardcastle, C. R. Boustred, G. C. Chan, M. McEntagart, Beatriz Gomes-Silva, E. Williams, Andrew R. Webster, Ellen R A Thomas, T. Fowler, Christine Patch, Raymond T. O'Keefe, Elizabeth A. Jones, D. Perez-Gil, M. B. Pereira, R. Bevers, F. J. Lopez, Jamie M Ellingford, Kevin Webb, M. Kayikci, S. C. Smith, F. Boardman-Pretty, Charlie Rowlands, K. Witkowsa, P. Arumugam, A. C. Need, Tim Hubbard, J. C. Ambrose, M. Mueller, Christopher O'Callaghan, F. Minneci, K. Savage
Publikováno v: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed the capability of eight algorithms, and a consensus approach, to prioritize 250 variants o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab35c97f0d97111f801af95b74d199e
https://doi.org/10.22541/au.160157595.59675486
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5
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing:a population-based study
Autor: Blair H. Smith, Archie Campbell, Ellen R A Thomas, David J. Porteous, Laurence Game, Shona M. Kerr, Andrew D. Morris, Anne K. Soutar, Jennifer Biggs, Timothy J. Aitman, Jana Vandrovcova, Penny J. Norsworthy, Generation Scotland, Anna F. Dominiczak
Publikováno v: 2014, ' Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing : a population-based study ', BMC Medical Genetics, vol. 15, no. 1, pp. 70 . https://doi.org/10.1186/1471-2350-15-70
BMC Medical Genetics
Background\ud Familial hypercholesterolaemia (FH) is a common Mendelian condition which, untreated, results in premature coronary heart disease. An estimated 88% of FH cases are undiagnosed in the UK. We previously validated a method for FH mutation
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd617e9cb272eb8500acffe835936200
https://hdl.handle.net/20.500.11820/fdd55486-81f2-4f09-a70b-b36e4dc1dbd2
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6
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia
Autor: Jennifer Biggs, Dalia Kasperaviciute, Michael Mueller, Anne K. Soutar, Clare Neuwirth, Yvonne Tan, Laurence Game, Jana Vandrovcova, Penny J. Norsworthy, Timothy J. Aitman, Ellen R A Thomas, Santosh S. Atanur
Publikováno v: Vandrovcova, J, Thomas, E R A, Atanur, S, Norsworthy, P J, Neuwirth, C, Tan, Y, Kasperaviciute, D, Biggs, J, Game, L, Mueller, M, Soutar, A K & Aitman, T J 2013, ' The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia ', Genetics in Medicine, vol. 15, no. 12, pp. 948-57 . https://doi.org/10.1038/gim.2013.55
PURPOSE: Familial hypercholesterolemia is a common Mendelian disorder associated with early-onset coronary heart disease that can be treated by cholesterol-lowering drugs. The majority of cases in the United Kingdom are currently without a molecular
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7e51758564ddbb9ec12455d84f1c93f
https://www.pure.ed.ac.uk/ws/files/17263544/The_use_of_next_generation_sequencing_in_clinical_diagnosis_of_familial_hypercholesterolemia.pdf
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7
Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia
Autor: Ambrosius P. Snijders, Penny J. Norsworthy, Vesela Encheva, Anne K. Soutar, Timothy J. Aitman, Mary Seed, Jana Vandrovcova, Ellen R A Thomas, Santosh S. Atanur, Afshan Siddiq, Laurence Game
Publikováno v: Thomas, E R A, Atanur, S S, Norsworthy, P J, Encheva, V, Snijders, A P, Game, L, Vandrovcova, J, Siddiq, A, Seed, M, Soutar, A K & Aitman, T J 2013, ' Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia ' vol. 1, no. 3, pp. 155-61 . DOI: 10.1002/mgg3.17
Molecular Genetics & Genomic Medicine
Patients with autosomal dominant hypercholesterolemia (ADH) have a high risk of developing cardiovascular disease that can be effectively treated using statin drugs. Molecular diagnosis and family cascade screening is recommended for early identifica
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::199de982f93fd3856f827afbad6ed0c2
http://hdl.handle.net/10044/1/93261
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9
Mild case of Curry-Jones syndrome
Autor: Emma Wakeling, Ellen R A Thomas, Angela F. Brady, FR Goodman, John C Dickinson, Christine Hall
Publikováno v: Clinical dysmorphology. 15(2)
The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71c48b4dba393ab48553d69c83ad2e2e
https://pubmed.ncbi.nlm.nih.gov/16531740
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