Catharina Schuetz

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman et al. · Nucleic Acids Research · 2023 · 311 citations · Full text

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

Immunohematology, Rag Mutation, Immunodeficiencies +20

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 · 215 citations

Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

Jessica C. de Greef, Jun Wang, Judit Balog et al. · The American Journal of Human Genetics · 2011 · 195 citations · Full text

Developmental Anomaly, Genetic Disorder, Genetics +8

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 · 194 citations · Full text