Associated Papers
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
41300788 (PubMed )
Supplement: genes-16-01336-s001.zip › genes-3947445-supplementary.pdf
Familial Hemophagocytic Lymphohistiocytosis Screening in Neonatal Sepsis.
Kadi Ozan Z et al.
Journal of Pediatric Hematology/oncology, 2024
Clonal Hematopoiesis Mutations in Patients with Lung Cancer Are Associated with Lung Cancer Risk Factors.
Hong W et al.
Cancer Research, 2022
34815255 (PubMed )
Supplement: can-21-1903_table_s1-s3_suppst1-st3.xlsx › TableS2_SNPs_associated_with_CH
Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis.
Ahmari AA et al.
Blood Research, 2021
Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.
Steen EA et al.
Frontiers in Immunology, 2021
Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling.
Umar M et al.
Journal of Cellular and Molecular Medicine, 2020
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf
Predicting disease-causing variant combinations.
Papadimitriou S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
31127050 (PubMed )
Supplement: pnas.1815601116.sapp.pdf
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
Cetica V et al.
Journal of Medical Genetics, 2010
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