Associated Papers
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
A retrospective single-center pilot study of the genetic background of the transplanted kidney.
Novotna A et al.
Plos One, 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
Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.
Stadermann A et al.
International Journal of Molecular Sciences, 2024
Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3.
Nagaraj CB et al.
Bmc Pediatrics, 2024
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
A Review of Neuropathological Features of Familial and Adult Hemophagocytic Lymphohistiocytosis.
Klein C et al.
Journal of Neuropathology and Experimental Neurology, 2019
Human perforin gene variation is geographically distributed.
Willenbring RC et al.
Molecular Genetics & Genomic Medicine, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO.
Jørgensen SE et al.
The Journal of Allergy and Clinical Immunology, 2016
Clinical detection of deletion structural variants in whole-genome sequences.
Noll AC et al.
Npj Genomic Medicine, 2016
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Willig LK et al.
The Lancet. Respiratory Medicine, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
Zhang K et al.
Blood, 2011