8 Matching Annotations
  1. Sep 2026
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters
    1
    1. Vibhor 13 Sep 2026
      Current age 26 years
      Case#: Eldest sister/Female/Onset at 3yo DiseaseAssertion: SLC26A2 FamilyInfo:Family pedigree showing consanguinity of the proband's parents. The osteochondrodysplasia genotype, derived from a homozygous variant in the SLC26A2 gene and compound heterozygous variants in the ABCA4 gene, is responsible for the retinal phenotype. CasePresentingHPOs: n/a CaseHPOFreeText:severe macular atrophy (Heidelberg Spectralis, Heidelberg Engineering; Figure 3). Multifocal ERG responses were severely reduced at all rings in both eyes GenotypingMethod: genetic screening by next‐generation sequencing (NGS) was performed on a panel of genes involved in retinal dystrophy and macular degeneration Varient: ABCA4 (RefSeq: NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)) inferred_gene_hgnc:34 inferred_gene_source:RefSeq ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC8123746/
  3. Aug 2022
  4. twitter.com twitter.com
    ReconfigBehSci on Twitter
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    twitter.com/SciBeh/status/1464302372100976650
  5. Jan 2022
  6. www.theguardian.com www.theguardian.com
    Covid reinfection: how likely are you to catch virus multiple times?
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    theguardian.com/world/2022/jan/21/covid-reinfection-how-likely-are-you-to-catch-virus-multiple-times
  7. academic.oup.com academic.oup.com
    Virologic Features of Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children
    1
    1. chaeyeonlim 09 Jan 2022

      Yonker, L. M., Boucau, J., Regan, J., Choudhary, M. C., Burns, M. D., Young, N., Farkas, E. J., Davis, J. P., Moschovis, P. P., Bernard Kinane, T., Fasano, A., Neilan, A. M., Li, J. Z., & Barczak, A. K. (2021). Virologic Features of Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children. The Journal of Infectious Diseases, 224(11), 1821–1829. https://doi.org/10.1093/infdis/jiab509

      is:article lang:en COVID-19 pediatric covid-19 viral dynamics adult child pediatrics viral load result infection severe acute respiratory syndrome viral culture community severity of illness transmission variant genetic variant infection dynamics public health
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    academic.oup.com/jid/article/224/11/1821/6396772
  8. Nov 2021
  9. www.thelancet.com www.thelancet.com
    Access and benefit-sharing by the European Virus Archive in response to COVID-19
    1
    1. jackiekrauss 22 Nov 2021

      Sett, S., Ribeiro, C. dos S., Prat, C., Haringhuizen, G., Avšič, T., Batten, C., Beato, M. S., Bourhy, H., Caro, A. D., Charrel, R., Coutard, B., Drexler, J. F., Drosten, C., Fooks, A. R., Klempa, B., Koopmans, M., Klimkait, T., Günther, S., Manuguerra, J.-C., … Scholz, A. H. (2021). Access and benefit-sharing by the European Virus Archive in response to COVID-19. The Lancet Microbe, 0(0). https://doi.org/10.1016/S2666-5247(21)00211-1

      is:article lang:en COVID-19 access benefit European Virus Archive biobanking infrastructure pathogen genetic resource expertise non-monetary benefit sharing awareness variant of concern discrepancy legal framework
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    thelancet.com/journals/lanmic/article/PIIS2666-5247(21)00211-1/fulltext
  10. Oct 2021
  11. www.biorxiv.org www.biorxiv.org
    https://biorxiv.org/cgi/content/10.1101/2021.10.08.463334
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    biorxiv.org/content/10.1101/2021.10.08.463334v1
  12. Mar 2021
  13. www.theguardian.com www.theguardian.com
    How a string of failures by the British government helped Covid-19 to mutate | Anthony Costello
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    theguardian.com/commentisfree/2020/dec/22/uk-government-blamed-covid-19-mutation-occur
  14. Sep 2020
  15. www.medrxiv.org www.medrxiv.org
    Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility
    1
    1. ErikStuchly 02 Sep 2020

      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

      is:preprint lang:en COVID-19 symptom-based prediction genetic factor susceptibility identification epidemiology self-report genetic variant severity testing
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    medrxiv.org/cgi/content/10.1101/2020.08.21.20177246