Catharina Schuetz

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman et al. · Nucleic Acids Research · 2023 · 375 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +15

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13

An Immunodeficiency Disease with<i>RAG</i>Mutations and Granulomas

Catharina Schuetz, Kirsten Huck, Sonja Gudowius et al. · New England Journal of Medicine · 2008 · 218 citations

Life Sciences, Genetics, Immunology +17

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Melanie M. Hagleitner, Arjan C. Lankester, P Maraschio et al. · Journal of Medical Genetics · 2007 · 217 citations

Life Sciences, Genetics, Molecular Genetics +9

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

Jolán E. Walter, Lindsey B. Rosen, Krisztián Csomós et al. · Journal of Clinical Investigation · 2015 · 200 citations · Full text

Life Sciences, Immunology, Pathology +17