Associated Papers
Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development.
Correa Brito L et al.
Journal of Personalized Medicine, 2023
37511771 (PubMed )
Supplement: jpm-13-01158-s001.zip › Supplementary_Table_S1_-_Classification_of_additional_prioritised_variants.xlsx › ACMG-AMP_criteria
Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.
Kim SC et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022
34918496 (PubMed )
Supplement: ADVS-9-2103360-s007.xlsx › Table_S3B
Case Report: Next-Generation Sequencing-Based Detection in A Patient with Three Synchronous Primary Tumors.
Wu T et al.
Frontiers in Oncology, 2022
35912179 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_3A.XLSX › ____
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1
Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.
Nagasawa S et al.
Communications Biology, 2021
33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM5_ESM.xlsx › CaseA
Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.
Grant AD et al.
Scientific Reports, 2019
31484939 (PubMed )
Supplement: 41598_2019_48967_MOESM2_ESM.xls › Supplementary_Variant_File
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