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Research Output 1997 2018

Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy

Michalovich, D. & Nejentsev, S., 2018, In : Frontiers in Immunology. 9, p. 369

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

Cuchet-Lourenço, D., Eletto, D., Wu, C., Plagnol, V., Papapietro, O., Curtis, J., Ceron-Gutierrez, L., Bacon, C. M., Hackett, S., Alsaleem, B., Maes, M., Gaspar, M., Alisaac, A., Goss, E., AlIdrissi, E., Siegmund, D., Wajant, H., Kumararatne, D., AlZahrani, M. S., Arkwright, P. D. & 3 othersAbinun, M., Doffinger, R. & Nejentsev, S., 24 Aug 2018, In : Science. 361, 6404, p. 810-813 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Erratum to: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (Scientific Reports, (2018), 8, 1, (1300), 10.1038/s41598-017-14403-y)

NIHR BioResource - Rare Diseases, 2018, In : Scientific Reports. 8, 1, 13376.

Research output: Contribution to journalErratumAcademicpeer-review

Open Access

Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data

23 and Me Research Team, Oct 2018, In : American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 177, 7, p. 641-657 17 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

Dorjbal, B., Stinson, J. R., Ma, C. A., Weinreich, M. A., Miraghazadeh, B., Hartberger, J. M., Frey-Jakobs, S., Weidinger, S., Moebus, L., Franke, A., Schäffer, A. A., Bulashevska, A., Fuchs, S., Ehl, S., Limaye, S., Arkwright, P. D., Briggs, T. A., Langley, C., Bethune, C., Whyte, A. F. & 35 othersAlachkar, H., Nejentsev, S., DiMaggio, T., Nelson, C. G., Stone, K. D., Nason, M., Brittain, E. H., Oler, A. J., Veltri, D. P., Leahy, T. R., Conlon, N., Poli, M. C., Borzutzky, A., Cohen, J. I., Davis, J., Lambert, M. P., Romberg, N., Sullivan, K. E., Paris, K., Freeman, A. F., Lucas, L., Chandrakasan, S., Savic, S., Hambleton, S., Patel, S. Y., Jordan, M. B., Theos, A., Lebensburger, J., Atkinson, T. P., Torgerson, T. R., Chinn, I. K., Milner, J. D., Grimbacher, B., Cook, M. C. & Snow, A. L., 28 Aug 2018, In : Journal of Allergy and Clinical Immunology.

Research output: Contribution to journalArticleAcademicpeer-review

Activities 2014 2018

  • 3 Invited talk
  • 2 Editorial work

Primary immunodeficiencies: lessons from rare diseases and therapeutic implications

Sergey Nezhentsev (Speaker)
13 Apr 2018

Activity: Talk or presentationInvited talk

Screening human genome to dissect mechanisms of susceptibility to mycobacterial infection and tuberculosis

Sergey Nezhentsev (Speaker)
1 Jun 2018

Activity: Talk or presentationInvited talk

Variant or disease-causing

Sergey Nezhentsev (Speaker)
25 Oct 2018

Activity: Talk or presentationInvited talk

Frontiers in Immunology (Journal)

Sergey Nezhentsev (Member of editorial board)
2017 → …

Activity: Publication peer-review and editorial workEditorial work

Open Biology (Journal)

Sergey Nezhentsev (Member of editorial board)
2014 → …

Activity: Publication peer-review and editorial workEditorial work