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
40766138 (PubMed )
Supplement: media-1.pdf
Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.
Stoltze UK et al.
Genome Medicine, 2023
36918911 (PubMed )
Supplement: 13073_2023_1167_MOESM2_ESM.xlsx › Table_S4_LoFP_variants
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL et al.
Cold Spring Harbor Molecular Case Studies, 2019
31604778 (PubMed )
Supplement: supp_mcs.a004218_Supplemental_Tables.xlsx › Table_S4
The mutation spectrum in RECQL4 diseases.
Siitonen HA et al.
European Journal of Human Genetics : Ejhg, 2009
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