Associated Papers
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
40090000 (PubMed )
Supplement: BLOOD_BLD-2024-027954-mmc2.xlsx › Suppl._table_1
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
37274821 (PubMed )
Supplement: Datasheet1.xlsx › Table_2_VUS_variants
Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.
Steen EA et al.
Frontiers in Immunology, 2021
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Transcriptomic characterization and innovative molecular classification of clear cell renal cell carcinoma in the Chinese population.
Zhao Q et al.
Cancer Cell International, 2020
32982583 (PubMed )
Supplement: 12935_2020_1552_MOESM2_ESM.xlsx › Table_S1_a
Heterogeneous responses and resistant mechanisms to crizotinib in ALK-positive advanced non-small cell lung cancer.
Kang J et al.
Thoracic Cancer, 2018
29978950 (PubMed )
Supplement: TCA-9-1093-s006.xlsx › Sheet1
Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.
Gao L et al.
International Journal of Hematology, 2015
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