T. Schwerd

The diagnostic approach to monogenic very early onset inflammatory bowel disease.

C. Klein, S. Travis, S. Snapper, 2014, Gastroenterology.

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

T. Giese, H. Prokisch, C. Klein, 2021, Journal of Clinical Immunology.

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

J. Danesh, M. Daly, J. Stelling, 2020, Nature Communications.

A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome

H. Uhlig, R. Abou Jamra, A. Reis, 2015, European Journal of Human Genetics.