Monika Sparber‐Sauer

SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID

Catharina Schuetz, Bénédicte Neven, Christopher C. Dvorak et al. · Blood · 2013 · 173 citations · Full text

Medicine, Immunology, Toxicology +9

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Julian Thalhammer, Gerhard Kindle, Alexandra Nieters et al. · Journal of Allergy and Clinical Immunology · 2021 · 170 citations · Full text

Life Sciences, Immunology, Infectious Diseases +10

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

Julia Pagel, Karin Beutel, Kai Lehmberg et al. · Blood · 2012 · 164 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants

Jenny Wegert, Christian Vokuhl, Grace Collord et al. · Nature Communications · 2018 · 109 citations · Full text

Medicine, Genetics, Oncology +17

Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications

Manfred Hönig, Michael H. Albert, Ansgar Schulz et al. · Blood · 2006 · 102 citations · Full text

Medicine, Hematology, Neuroscience +10