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Research Output 1997 2019

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Deciphering Developmental Disorders Study, NIHR BioResource, UK10K Consortium, Gorman, K. M., Meyer, E., Grozeva, D., Spinelli, E., McTague, A., Sanchis-Juan, A., Carss, K. J., Bryant, E., Reich, A., Schneider, A. L., Pressler, R. M., Simpson, M. A., Debelle, G. D., Wassmer, E., Morton, J., Sieciechowicz, D., Paciorkowski, A. R. & 5 othersCross, J. H., Poduri, A., Mefford, H. C., Haack, T. B. & McCullagh, G., 2019, In : American journal of human genetics. 104, 5, p. 948-956

Research output: Contribution to journalArticleAcademicpeer-review

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

Activities 2014 2018

  • 3 Invited talk
  • 2 Editorial work

Variant or disease-causing

Sergey Nezhentsev (Speaker)
25 Oct 2018

Activity: Talk or presentationInvited talk

Primary immunodeficiencies: lessons from rare diseases and therapeutic implications

Sergey Nezhentsev (Speaker)
13 Apr 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