Published Articles, Dept. of Genetics : [1208] Collection home page

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Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 1208
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First PublishedTitleAuthor(s)Type
20-Aug-2018hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update.Wang, M; Callenberg, KM; Dalgleish, R; Fedtsov, A; Fox, NK; Freeman, PJ; Jacobs, KB; Kaleta, P; McMurry, AJ; Prlić, A; Rajaraman, V; Hart, RKJournal Article
2-Aug-2018Registered access: authorizing data access.Dyke, SOM; Linden, M; Lappalainen, I; De Argila, JR; Carey, K; Lloyd, D; Spalding, JD; Cabili, MN; Kerry, G; Foreman, J; Cutts, T; Shabani, M; Rodriguez, LL; Haeussler, M; Walsh, B; Jiang, X; Wang, S; Perrett, D; Boughtwood, T; Matern, A; Brookes, AJ; Cupak, M; Fiume, M; Pandya, R; Tulchinsky, I; Scollen, S; Törnroos, J; Das, S; Evans, AC; Malin, BA; Beck, S; Brenner, SE; Nyrönen, T; Blomberg, N; Firth, HV; Hurles, M; Philippakis, AA; Rätsch, G; Brudno, M; Boycott, KM; Rehm, HL; Baudis, M; Sherry, ST; Kato, K; Knoppers, BM; Baker, D; Flicek, PJournal Article
13-Oct-2017Legacy data sharing to improve drug safety assessment: the eTOX project.Sanz, F; Pognan, F; Steger-Hartmann, T; Díaz, C; eTOX; Cases, M; Pastor, M; Marc, P; Wichard, J; Briggs, K; Watson, DK; Kleinöder, T; Yang, C; Amberg, A; Beaumont, M; Brookes, AJ; Brunak, S; Cronin, MTD; Ecker, GF; Escher, S; Greene, N; Guzmán, A; Hersey, A; Jacques, P; Lammens, L; Mestres, J; Muster, W; Northeved, H; Pinches, M; Saiz, J; Sajot, N; Valencia, A; van der Lei, J; Vermeulen, NPE; Vock, E; Wolber, G; Zamora, IJournal Article
20-Apr-2019Serogroup-specific meningococcal carriage by age group: a systematic review and meta-analysisPeterson, ME; Li, Y; Shanks, H; Mile, R; Nair, H; Kyaw, MH; Amicizia, D; Bayliss, CD; Campos, LC; Cleary, PR; Delbos, V; Esposito, S; Kristiansen, PA; Mbaeyi, SA; Oldfield, NJ; Panatto, D; Rodrigues, F; Soeters, HM; Turner, DPJ; Xu, AJournal Article
28-Jun-2019A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.Nikopoulos, K; Cisarova, K; Quinodoz, M; Koskiniemi-Kuendig, H; Miyake, N; Farinelli, P; Rehman, AU; Khan, MI; Prunotto, A; Akiyama, M; Kamatani, Y; Terao, C; Miya, F; Ikeda, Y; Ueno, S; Fuse, N; Murakami, A; Wada, Y; Terasaki, H; Sonoda, K-H; Ishibashi, T; Kubo, M; Cremers, FPM; Kutalik, Z; Matsumoto, N; Nishiguchi, KM; Nakazawa, T; Rivolta, CJournal Article
27-Aug-2018Phase Variation of NadA in Invasive Neisseria meningitidis Isolates Impacts on Coverage Estimates for 4C-MenB, a MenB Vaccine.Green, LR; Lucidarme, J; Dave, N; Chan, H; Clark, S; Borrow, R; Bayliss, CDJournal Article
24-May-2019Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.Royer-Bertrand, B; Tsouni, P; Mullen, P; Campos Xavier, B; Mittaz Crettol, L; Lobrinus, AJ; Ghika, J; Baumgartner, MR; Rivolta, C; Superti-Furga, A; Kuntzer, T; Francklyn, C; Tran, CJournal Article
13-Aug-2018Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk.Ji, X; Bossé, Y; Landi, MT; Gui, J; Xiao, X; Qian, D; Joubert, P; Lamontagne, M; Li, Y; Gorlov, I; de Biasi, M; Han, Y; Gorlova, O; Hung, RJ; Wu, X; McKay, J; Zong, X; Carreras-Torres, R; Christiani, DC; Caporaso, N; Johansson, M; Liu, G; Bojesen, SE; Le Marchand, L; Albanes, D; Bickeböller, H; Aldrich, MC; Bush, WS; Tardon, A; Rennert, G; Chen, C; Teare, MD; Field, JK; Kiemeney, LA; Lazarus, P; Haugen, A; Lam, S; Schabath, MB; Andrew, AS; Shen, H; Hong, Y-C; Yuan, J-M; Bertazzi, PA; Pesatori, AC; Ye, Y; Diao, N; Su, L; Zhang, R; Brhane, Y; Leighl, N; Johansen, JS; Mellemgaard, A; Saliba, W; Haiman, C; Wilkens, L; Fernandez-Somoano, A; Fernandez-Tardon, G; van der Heijden, EHFM; Kim, JH; Dai, J; Hu, Z; Davies, MPA; Marcus, MW; Brunnström, H; Manjer, J; Melander, O; Muller, DC; Overvad, K; Trichopoulou, A; Tumino, R; Doherty, J; Goodman, GE; Cox, A; Taylor, F; Woll, P; Brüske, I; Manz, J; Muley, T; Risch, A; Rosenberger, A; Grankvist, K; Johansson, M; Shepherd, F; Tsao, M-S; Arnold, SM; Haura, EB; Bolca, C; Holcatova, I; Janout, V; Kontic, M; Lissowska, J; Mukeria, A; Ognjanovic, S; Orlowski, TM; Scelo, G; Swiatkowska, B; Zaridze, D; Bakke, P; Skaug, V; Zienolddiny, S; Duell, EJ; Butler, LM; Koh, W-P; Gao, Y-T; Houlston, R; McLaughlin, J; Stevens, V; Nickle, DC; Obeidat, M; Timens, W; Zhu, B; Song, L; Artigas, MS; Tobin, MD; Wain, LV; Gu, F; Byun, J; Kamal, A; Zhu, D; Tyndale, RF; Wei, W-Q; Chanock, S; Brennan, P; Amos, CIJournal Article
22-May-2018Demographic History and Genetic Adaptation in the Himalayan Region Inferred from Genome-Wide SNP Genotypes of 49 Populations.Arciero, E; Kraaijenbrink, T; Asan; Haber, M; Mezzavilla, M; Ayub, Q; Wang, W; Pingcuo, Z; Yang, H; Wang, J; Jobling, MA; van Driem, G; Xue, Y; de Knijff, P; Tyler-Smith, CJournal Article
28-Jun-2019Remote post-mortem radiology reporting in disaster victim 6 identification: experience gained in the 2017 Grenfell Tower disasterRutty, Guy N.; Biggs, Mike J. P.; Brough, Alison; Morgan, Bruno; Webster, Philip; Heathcote, Ann; Dolan1, Jessica; Robinson, ClaireJournal Article
5-Aug-2016Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society.Oetting, William S.; Brookes, Anthony J.; Béroud, Christophe; Taschner, Peter E.Journal Article
14-Nov-2018Mutation and Selection in Bacteria: Modelling and Calibration.Bayliss, C. D.; Fallaize, C.; Howitt, R.; Tretyakov, M. V.Journal Article
31-May-2018Variation in faecal microbiota in a group of horses managed at pasture over a 12-month period.Salem, SE; Maddox, TW; Berg, A; Antczak, P; Ketley, JM; Williams, NJ; Archer, DCJournal Article
20-Jul-2018Integrase-Controlled Excision of Metal-Resistance Genomic Islands in Acinetobacter baumannii.Al-Jabri, Z; Zamudio, R; Horvath-Papp, E; Ralph, JD; Al-Muharrami, Z; Rajakumar, K; Oggioni, MRJournal Article
21-Dec-2017Sputum microbiome temporal variability and dysbiosis in chronic obstructive pulmonary disease exacerbations: an analysis of the COPDMAP study.Wang, Z; Singh, R; Miller, BE; Tal-Singer, R; Van Horn, S; Tomsho, L; Mackay, A; Allinson, JP; Webb, AJ; Brookes, AJ; George, LM; Barker, B; Kolsum, U; Donnelly, LE; Belchamber, K; Barnes, PJ; Singh, D; Brightling, CE; Donaldson, GC; Wedzicha, JA; Brown, JR; COPDMAPJournal Article
13-Jun-2019Peptidergic signaling from clock neurons regulates reproductive dormancy in Drosophila melanogaster.Nagy, D; Cusumano, P; Andreatta, G; Anduaga, AM; Hermann-Luibl, C; Reinhard, N; Gesto, J; Wegener, C; Mazzotta, G; Rosato, E; Kyriacou, CP; Helfrich-Förster, C; Costa, RJournal Article
15-Apr-2019Analysis of the recombination landscape of hexaploid bread wheat reveals genes controlling recombination and gene conversion frequencyGardiner, Laura-Jayne; Wingen, Luzie U.; Bailey, Paul; Joynson, Ryan; Brabbs, Thomas; Wright, Jonathan; Higgins, James D.; Hall, Neil; Griffiths, Simon; Clavijo, Bernardo J.; Hall, AnthonyJournal Article
27-Mar-2019Frequency of macroscopic intradural hemorrhage with and without subdural hemorrhage in early childhood autopsies.Cheshire, EC; Biggs, MJP; Hollingbury, FE; Fitzpatrick-Swallow, VL; Prickett, TRA; Malcomson, RDGJournal Article
24-May-2019Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1.Del Pozo-Valero, M; Martin-Merida, I; Jimenez-Rolando, B; Arteche, A; Avila-Fernandez, A; Blanco-Kelly, F; Riveiro-Alvarez, R; Van Cauwenbergh, C; De Baere, E; Rivolta, C; Garcia-Sandoval, B; Corton, M; Ayuso, CJournal Article
1-Mar-2019Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.Verbakel, SK; van Huet, RAC; den Hollander, AI; Geerlings, MJ; Kersten, E; Klevering, BJ; Klaver, CCW; Plomp, AS; Wesseling, NL; Bergen, AAB; Nikopoulos, K; Rivolta, C; Ikeda, Y; Sonoda, K-H; Wada, Y; Boon, CJF; Nakazawa, T; Hoyng, CB; Nishiguchi, KMJournal Article
Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 1208
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