May 31, 2023 article Open access PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production Science Translational Medicine DOI: 10.1126/scitranslmed.abo3189 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 6 stored of 37 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis 2025 Annals of the Rheumatic Diseases article Biochemistry, Genetics and Molecular Biology Inflammasome and immune disorders Open access 6 citations Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies 2025 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 2 citations Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings 2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 56 citations GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 2024 Research Square preprint Computer Science Face recognition and analysis Open access 4 citations Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome 2024 The American Journal of Human Genetics article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access 25 citations GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 2023 medRxiv preprint Computer Science Face recognition and analysis Open access 25 citations 6 results References 0