Zobrazeno 1 - 10 of 87 pro vyhledávání: '"Knight SJL"'
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Whole genome sequencing identifies putative associations between genomic polymorphisms and clinical response to the antiepileptic drug levetiracetam
Autor: Vavoulis, DV, Pagnamenta, AT, Knight, SJL, Pentony, MM, Armstrong, M, Galizia, EC, Balestrini, S, Sisodiya, SM, Taylor, JC
In the context of pharmacogenomics, whole genome sequencing provides a powerful approach for identifying correlations between response variability to specific drugs and genomic polymorphisms in a population, in an unbiased manner. In this study, we e
Externí odkaz: http://arxiv.org/abs/1909.10580
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3
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project
Autor: Robbe, P, Popitsch, N, Knight, SJL, Antoniou, P, Becq, J, He, M, Kanapin, A, Samsonova, A, Vavoulis, DV, Ross, MT, Kingsbury, Z, Cabes, M, Ramos, SDC, Page, S, Dreau, H, Ridout, K, Jones, LJ, Tuff-Lacey, A, Henderson, S, Mason, J, Buffa, FM, Verrill, CL, Maldonado-Perez, D, Roxanis, I, Collantes, E, Browning, L, Dhar, S, Damato, SP, Davies, S, Caulfield, M, Bentley, DR, Taylor, JC, Turnbull, C, Schuh, A
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
Purpose Fresh-frozen (FF) tissue is the optimal source of DNA for whole-genome sequencing (WGS) of cancer patients. However, it is not always available, limiting the widespread application of WGS in clinical practice. We explored the viability of usi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::31eadb492d1950879a6ea4ea7137d0dd
http://europepmc.org/articles/PMC6520241
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4
Clinical spectrum of STX1B-related epileptic disorders
Autor: Wolking, S, May, P, Mei, D, Møller, RS, Balestrini, S, Helbig, KL, Altuzarra, CD, Chatron, N, Kaiwar, C, Stöhr, K, Widdess-Walsh, P, Mendelsohn, BA, Numis, A, Cilio, MR, Van Paesschen, W, Svendsen, LL, Oates, S, Hughes, E, Goyal, S, Brown, K, Saenz, M, Dorn, T, Muhle, H, Pagnamenta, AT, Vavoulis, DV, Knight, SJL, Taylor, JC, Canevini, MP, Darra, F, Gavrilova, RH, Powis, Z, Tang, S, Marquetand, J, Armstrong, M, McHale, D, Klee, EW, Kluger, GJ, Lowenstein, DH, Weckhuysen, S, Pal, DK, Helbig, I, Guerrini, R, Thomas, RH, Rees, MI, Lesca, G, Sisodiya, SM, Weber, YG, Lal, D, Marini, C, Lerche, H, Schubert, J
Publikováno v: Wolking, S, May, P, Mei, D, Møller, R S, Balestrini, S, Helbig, K L, Altuzarra, C D, Chatron, N, Kaiwar, C, Stöhr, K, Widdess-Walsh, P, Mendelsohn, B A, Numis, A, Cilio, M R, Van Paesschen, W, Svendsen, L L, Oates, S, Hughes, E, Goyal, S, Brown, K, Sifuentes Saenz, M, Dorn, T, Muhle, H, Pagnamenta, A T, Vavoulis, D V, Knight, S J L, Taylor, J C, Canevini, M P, Darra, F, Gavrilova, R H, Powis, Z, Tang, S, Marquetand, J, Armstrong, M, McHale, D, Klee, E W, Kluger, G J, Lowenstein, D H, Weckhuysen, S, Pal, D K, Helbig, I, Guerrini, R, Thomas, R H, Rees, M I, Lesca, G, Sisodiya, S M, Weber, Y G, Lal, D, Marini, C, Lerche, H & Schubert, J 2019, ' Clinical spectrum of STX1B-related epileptic disorders ', Neurology, vol. 92, no. 11, pp. e1238-e1249 . https://doi.org/10.1212/WNL.0000000000007089
Neurology
OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS:
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::64082d157eff5d0457b6e34c87e55deb
http://ora.ox.ac.uk/objects/uuid:
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5
PF376 DIFFERENTIAL GENOMIC AND TRANSCRIPTOMIC EVENTS ASSOCIATED WITH HIGH-GRADE TRANSFORMATION OF CHRONIC LYMPHOCYTIC LEUKEMIA
Autor: Kate Ridout, Jenny Klintman, Robert Månsson, Knight Sjl, Jenny C. Taylor, José I. Martín-Subero, Dimitrios V Vavoulis, Niko Popitsch, Basile Stamatopoulos, Helene Dreau, Elias Campo, Toby A. Eyre, Anna Schuh, Niamh Appleby, Davide Rossi, Mats Ehinger, Laura Lopez Pascua
Publikováno v: HemaSphere. 3:139-140
The transformation of chronic lymphocytic leukemia (CLL) to high-grade diffuse large B-cell lymphoma (DLBCL), also called Richter’s Syndrome (RS), is a rare cancer with dismal prognosis. Drug discovery for RS is hampered by the lack of suitable exp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::822b80480dc3f366e53948dd6b4ae363
https://doi.org/10.1097/01.hs9.0000559716.92296.c9
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6
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma
Autor: Joe Harvey, Matteo P. Ferla, Ricky A. Sharma, Jenny C. Taylor, E Giacopuzzi, Pamela J. Kaisaki, McCullagh Jso., H Winter, Melissa M. Pentony, Knight Sjl.
Publikováno v: Cancers
Volume 11
Issue 12
Intrahepatic cholangiocarcinoma (ICC) is an aggressive cancer arising from the bile ducts with a need for earlier diagnosis and a greater range of treatment options. KRAS/NRAS mutations are common in ICC tumours and 6&ndash
32% of patients also
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::697550b3e3178c812f4e5e3b97c5e68c
https://doi.org/10.3390/cancers11121895
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