634 Matching Annotations
  1. Mar 2021
    1. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 120.5

      AssayResultAssertion: Normal

      ReplicateCount: 41

      StandardErrorMean: 10.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    2. we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.2317C>T p.(Pro773Ser)

    1. Grint, D. J., Wing, K., Williamson, E., McDonald, H. I., Bhaskaran, K., Evans, D., Evans, S. J., Walker, A. J., Hickman, G., Nightingale, E., Schultze, A., Rentsch, C. T., Bates, C., Cockburn, J., Curtis, H. J., Morton, C. E., Bacon, S., Davy, S., Wong, A. Y., … Eggo, R. M. (2021). Case fatality risk of the SARS-CoV-2 variant of concern B.1.1.7 in England. MedRxiv, 2021.03.04.21252528. https://doi.org/10.1101/2021.03.04.21252528

  2. Feb 2021
    1. Supplemental material

      AssayResult: 65

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    2. Supplemental material

      AssayResult: 4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    3. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.455del p.(Pro152Argfs*18)

    1. Hodcroft, E. B., Domman, D. B., Oguntuyo, K., Snyder, D. J., Diest, M. V., Densmore, K. H., Schwalm, K. C., Femling, J., Carroll, J. L., Scott, R. S., Whyte, M. M., Edwards, M. D., Hull, N. C., Kevil, C. G., Vanchiere, J. A., Lee, B., Dinwiddie, D. L., Cooper, V. S., & Kamil, J. P. (2021). Emergence in late 2020 of multiple lineages of SARS-CoV-2 Spike protein variants affecting amino acid position 677. MedRxiv, 2021.02.12.21251658. https://doi.org/10.1101/2021.02.12.21251658

    1. Shen, X., Tang, H., McDanal, C., Wagh, K., Fischer, W. M., Theiler, J., Yoon, H., Li, D., Haynes, B. F., Saunders, K. O., Gnanakaran, S., Hengartner, N. W., Pajon, R., Smith, G., Dubovsky, F., Glenn, G. M., Korber, B. T., & Montefiori, D. C. (2021). SARS-CoV-2 Variant B.1.1.7 is Susceptible to Neutralizing Antibodies Elicited by Ancestral Spike Vaccines (SSRN Scholarly Paper ID 3777473). Social Science Research Network. https://papers.ssrn.com/abstract=3777473

    1. En cas de survenue d’un cas confirmé portant la variante britannique du SARS-CoV-2Conformément à l’avis du Conseil Scientifique, la confirmation d’un cas de variante britannique du virus SARS-CoV2 dans une classe doit conduire à la fermeture de la classe, dans les établissements d’enseignement du premier degré et du second degré. Les élèves de la classe sont donc assimilés à des contacts à risque. L’identification des contacts à risque parmi les personnels se fait dans les conditions décrites selon les règles définies par Santé publique France

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  3. Jan 2021
  4. Sep 2020
    1. Blokland, I. V. van, Lanting, P., Ori, A. P., Vonk, J. M., Warmerdam, R. C., Herkert, J. C., Boulogne, F., Claringbould, A., Lopera-Maya, E. A., Bartels, M., Hottenga, J.-J., Ganna, A., Karjalainen, J., Study, L. C.-19 cohort, Initiative, T. C.-19 H. G., Hayward, C., Fawns-Ritchie, C., Campbell, A., Porteous, D., … Franke, L. H. (2020). Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility. MedRxiv, 2020.08.21.20177246. https://doi.org/10.1101/2020.08.21.20177246

  5. Aug 2020
    1. Qu, J., Cai, Z., Liu, Y., Duan, X., Han, S., Zhu, Y., Jiang, Z., Zhang, Y., Zhuo, C., Liu, Y., Liu, Y., Liu, L., & Yang, L. (2020). Persistent bacterial coinfection of a COVID-19 patient caused by a genetically adapted Pseudomonas aeruginosa chronic colonizer. BioRxiv, 2020.08.05.238998. https://doi.org/10.1101/2020.08.05.238998

  6. Jul 2020
    1. Yurkovetskiy, L., Wang, X., Pascal, K. E., Tomkins-Tinch, C., Nyalile, T., Wang, Y., Baum, A., Diehl, W. E., Dauphin, A., Carbone, C., Veinotte, K., Egri, S. B., Schaffner, S. F., Lemieux, J. E., Munro, J., Rafique, A., Barve, A., Sabeti, P. C., Kyratsous, C. A., … Luban, J. (2020). Structural and Functional Analysis of the D614G SARS-CoV-2 Spike Protein Variant. BioRxiv, 2020.07.04.187757. https://doi.org/10.1101/2020.07.04.187757