Associated Papers
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3
SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.
Portelinha A et al.
The Journal of Experimental Medicine, 2024
39235528 (PubMed )
Supplement: JEM_20231143_TableS3.xlsx › KMT2D_MSK_dataset
KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans.
Kalinousky AJ et al.
Genes, 2023
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.
Jung YL et al.
Human Molecular Genetics, 2023
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2
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