N. Brauer

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

Constitutional microsatellite instability, genotype, and phenotype correlations in Constitutional Mismatch Repair Deficiency.

L. Guerrini-Rousseau, K. Dahan, G. Borthwick, 2022, Gastroenterology.

Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)

W. Klapper, S. Ehl, H. Hennies, 2023, Frontiers in Immunology.