Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James E. D. Thaventhiran, Hana Lango Allen, Oliver S. Burren, William Rae, Daniel Greene, Emily Staples, Zinan Zhang, James H. R. Farmery, Ilenia Simeoni, Elizabeth Rivers, Jesmeen Maimaris, Christopher J. Penkett, Jonathan Stephens, Sri V. V. Deevi, Alba Sanchis-Juan, Nicholas S. Gleadall, Moira J. Thomas, Ravishankar B. Sargur, Pavels Gordins, Helen E. BaxendaleMatthew Brown, Paul Tuijnenburg, Austen Worth, Steven Hanson, Rachel J. Linger, Matthew S. Buckland, Paula J. Rayner-Matthews, Kimberly C. Gilmour, Crina Samarghitean, Suranjith L. Seneviratne, David M. Sansom, Andy G. Lynch, Karyn Megy, Eva Ellinghaus, David Ellinghaus, Silje F. Jorgensen, Tom H. Karlsen, Kathleen E. Stirrups, Antony J. Cutler, Dinakantha S. Kumararatne, Anita Chandra, J. David M. Edgar, Archana Herwadkar, Nichola Cooper, Sofia Grigoriadou, Aarnoud P. Huissoon, Sarah Goddard, Stephen Jolles, Catharina Schuetz, Felix Boschann, , Johan Heemskerk, Yvonne Henskens, Floor Moenen, Minka Vries

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)90-+
Number of pages24
JournalNature
Volume583
Issue number7814
DOIs
Publication statusPublished - 2 Jul 2020

Keywords

  • COMMON VARIABLE IMMUNODEFICIENCY
  • IUIS PHENOTYPIC CLASSIFICATION
  • GENETIC-VARIATION
  • STAT1 MUTATIONS
  • VARIANTS
  • ASSOCIATION
  • DEFICIENCY
  • SUPPRESSOR
  • GAIN
  • RARE

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