Associated Papers
Impact of CHEK2 germline variants on haematological malignancy risk and outcomes of allogeneic HSCT.
Lahtinen AK et al.
British Journal of Haematology, 2025
40506802 (PubMed )
Supplement: BJH-207-636-s001.docx
NTHL1 is a recessive cancer susceptibility gene.
Nurmi AK et al.
Scientific Reports, 2023
First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.
Bandini P et al.
British Journal of Haematology, 2023
Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.
Avagyan S et al.
Frontiers in Oncology, 2022
Germline variants drive myelodysplastic syndrome in young adults.
Feurstein S et al.
Leukemia, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
ERCC6L2-associated inherited bone marrow failure syndrome.
Shabanova I et al.
Molecular Genetics & Genomic Medicine, 2018
Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.
Järviaho T et al.
Clinical Genetics, 2018
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