Associated Papers
Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.
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Annals of Laboratory Medicine, 2025
41277019 (PubMed )
Supplement: ALM3692_Supple1.xlsx › Reference_Standard
Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene.
Oak N et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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Supplement: media-1.xlsx › S6._Predisposing_variants
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Kar SP et al.
Nature Genetics, 2022
35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4
Blood functional assay for rapid clinical interpretation of germline TP53 variants.
Raad S et al.
Journal of Medical Genetics, 2021
33051313 (PubMed )
Supplement: jmedgenet-2020-107059supp002.pdf
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Quinn EA et al.
Cold Spring Harbor Molecular Case Studies, 2019
30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.
Zerdoumi Y et al.
Human Molecular Genetics, 2017
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