Associated Papers
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
Hemophagocytic Lymphohistiocytosis Gene Variants in Severe Aplastic Anemia and Their Impact on Hematopoietic Cell Transplantation Outcomes.
Rafati M et al.
Transplantation and Cellular Therapy, 2024
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation.
Xin X et al.
The American Journal of the Medical Sciences, 2023
Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.
Park JE et al.
Frontiers in Pediatrics, 2022
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
Luo H et al.
European Journal of Human Genetics : Ejhg, 2021
Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.
Bi SH et al.
World Journal of Clinical Cases, 2021
Clinical and genetic features of Epstein-Barr virus-triggered late-onset primary hemophagocytic lymphohistiocytosis: Ten pedigrees study.
Gao L et al.
Clinical and Translational Medicine, 2021
To Transplant or Not to Transplant? Late-Onset Primary HLH in a Patient: A Case Report and Review of Literature.
Ashok V et al.
Journal of Pediatric Hematology/oncology, 2019
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.
Chen X et al.
Clinical Genetics, 2018
Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China.
Jin Z et al.
Orphanet Journal of Rare Diseases, 2018
Clonality, Heterogeneity, and Evolution of Synchronous Bilateral Ovarian Cancer.
Yin X et al.
Cancer Research, 2017
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.
Benezech S et al.
Clinical Case Reports, 2017
Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.
Wang Y et al.
Plos One, 2014
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.
An O et al.
Protein Science : a Publication of the Protein Society, 2013
Mutations of perforin gene in Chinese patients with acute lymphoblastic leukemia.
Yang L et al.
Leukemia Research, 2011