Associated Papers
Analysis of genetic predisposition to familial non-medullary thyroid cancer by whole genome sequencing.
Do Cao C et al.
Annales D'endocrinologie, 2025
FaMMily Affairs: Dissecting inherited contributions to multiple myeloma risk.
Bodnar S et al.
Seminars in Hematology, 2025
Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.
Qin G et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
38619278 (PubMed )
Supplement: ccr-23-1674_supplementary_table_s1-s14_suppts1.xlsx › TableS2_Var_AF0.01
Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.
Baz-Redón N et al.
Cells, 2024
38534367 (PubMed )
Supplement: cells-13-00524-s001.zip › Baz-Redon_Supplementary_Materials.pdf
Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.
Wallen ZD et al.
Frontiers in Oncology, 2024
39664186 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma.
Pertesi M et al.
Leukemia, 2019
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
Koboldt DC et al.
Cold Spring Harbor Molecular Case Studies, 2018
29305346 (PubMed )
Supplement: supp_mcs.a002410_Supplemental_Material.docx
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S16
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Jansen IE et al.
Genome Biology, 2017
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