Mary Buchta

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

C. Eng, T. Bley, H. Neumann, 2004, JAMA.

Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.

C. Eng, F. Forrer, H. Neumann, 2005, JAMA.

Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

Christian Gieger, Torsten Witte, Bodo Grimbacher, 2015, Nature Communications.

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.

L. Aaltonen, C. Morrison, S. Vanharanta, 2004, American journal of human genetics.

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

C. Klein, A. Franke, H. von Bernuth, 2017, Inflammatory bowel diseases.

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.

Anne-Kathrin Kienzler, L. Miosge, A. Enders, 2013, The Journal of allergy and clinical immunology.

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis

P. Soler-Palacín, V. Wahn, H. von Bernuth, 2021, Journal of Clinical Immunology.

Molecular characterisation of a common SDHB deletion in paraganglioma patients

C. Eng, H. Neumann, R. Letón, 2007, Journal of Medical Genetics.

Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood

V. Lougaris, N. Frede, K. Warnatz, 2017, Arthritis & rheumatology.