Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort

Andriessen, M. V. E., Legger, G. E., Bredius, R. G. M., van Gijn, M. E., Hak, A. E., Muller, P. C. E. H., Kamphuis, S., Klouwer, F. C. C., Kuijpers, T. W., Leavis, H. L., Nierkens, S., Rutgers, A., van der Veken, L. T., van Well, G. T. J., Mulders-Manders, C. M. & van Montfrans, J. M., 5-Jun-2023, (E-pub ahead of print) In: Journal of Clinical Immunology. 16 p.

Research output: Contribution to journal › Article › Academic › peer-review

Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS

van der Made, C. I., Potjewijd, J., Willems, H. P. J., Kwakernaak, A. J., de Sevaux, R. G. L., van Daele, P. L. A., Simons, A., Heijstek, M., Beck, D. B., Netea, M. G., van Paassen, P., Hak, A. E., van der Veken, L. T., van Gijn, M. E., Hoischen, A., van der Veerdonk, F. L., Leavis, H. L. & Rutgers, A., Jan-2022, In: Journal of Allergy and Clinical Immunology. 149, 1, p. 432-439.e4 12 p.

Research output: Contribution to journal › Article › Academic › peer-review

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

Haimel, M., Pazmandi, J., Heredia, R. J., Dmytrus, J., Bal, S. K., Zoghi, S., van Daele, P., Briggs, T. A., Wouters, C., Bader-Meunier, B., Aeschlimann, F. A., Caorsi, R., Eleftheriou, D., Hoppenreijs, E., Salzer, E., Bakhtiar, S., Derfalvi, B., Saettini, F., Kusters, M. A. A., Elfeky, R., & 18 othersTruck, J., Riviere, J. G., van der Burg, M., Gattorno, M., Seidel, M. G., Burns, S., Warnatz, K., Hauck, F., Brogan, P., Gilmour, K. C., Schuetz, C., Simon, A., Bock, C., Hambleton, S., de Vries, E., Robinson, P. N., van Gijn, M. & Boztug, K., Jan-2022, In: Journal of Allergy and Clinical Immunology. 149, 1, p. 369-378 10 p.

Research output: Contribution to journal › Article › Academic › peer-review

FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research

van der Velde, K. J., Singh, G., Kaliyaperumal, R., Liao, X., de Ridder, S., Rebers, S., Kerstens, H. H. D., de Andrade, F., van Reeuwijk, J., De Gruyter, F. E., Hiltemann, S., Ligtvoet, M., Weiss, M. M., van Deutekom, H. W. M., Jansen, A. M. L., Stubbs, A. P., Vissers, L. E. L. M., Laros, J. F. J., van Enckevort, E., Stemkens, D., & 4 othersHoen, P. A. C. T., Belien, J. A. M., van Gijn, M. E. & Swertz, M. A., 13-Apr-2022, In: Scientific Data. 9, 1, 13 p., 169.

Research output: Contribution to journal › Article › Academic › peer-review

Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma

Cuperus, E., Bygum, A., Boeckmann, L., Bodemer, C., Bolling, M. C., Caproni, M., Diociaiuti, A., Emmert, S., Fischer, J., Gostynski, A., Guez, S., van Gijn, M. E., Hannulla-Jouppi, K., Has, C., Hernandez-Martin, A., Martinez, A. E., Mazereeuw-Hautier, J., Medvecz, M., Neri, I., Sigurdsson, V., & 4 othersSuessmuth, K., Traupe, H., Oji, V. & Pasmans, S. G. M. A., 2022, In: Journal of the European Academy of Dermatology and Venereology. 36, 7, p. 973-986 14 p.

Research output: Contribution to journal › Review article › peer-review