Fabian Hauck

The Human Phenotype Ontology in 2021

Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu et al. · Nucleic Acids Research · 2020 · 1.2K citations · Full text

Medicine, Bioinformatics, Neurology +15

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects

Charlotte Schwab, Annemarie Gabrysch, Peter Olbrich et al. · Journal of Allergy and Clinical Immunology · 2018 · 441 citations · Full text

Life Sciences, Immunology, Pharmacology +12

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

Jana Pachlopnik Schmid, Danielle Canioni, Despina Moshous et al. · Blood · 2010 · 366 citations · Full text

Life Sciences, Genetics, Hematology +8

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

Isabelle Meyts, Giorgia Bucciol, Isabella Quinti et al. · Journal of Allergy and Clinical Immunology · 2020 · 361 citations · Full text

Veterinary Medicine, Immunology, Infectious Diseases +12

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

Emmanuel Martin, Noé Palmic, Sylvia Sanquer et al. · Nature · 2014 · 247 citations

Life Sciences, Immunology, Molecular Biology +9