Associated Papers
Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.
Kim YG et al.
European Journal of Human Genetics : Ejhg, 2025
40702147 (PubMed )
Supplement: 41431_2025_1911_MOESM2_ESM.xlsx › Supplementary_table
New insights into tuberous sclerosis complex: from structure to pathogenesis.
Chen CS et al.
Frontiers in Cell and Developmental Biology, 2025
40655946 (PubMed )
Supplement: DataSheet1.pdf
Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.
Filetti M et al.
Cancers, 2024
39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4
Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.
Hong JH et al.
Journal of Gynecologic Oncology, 2022
35128859 (PubMed )
Supplement: jgo-33-e29-s002.xls › jgo-33-e29-s002
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.
Teranishi Y et al.
Journal of Medical Genetics, 2021
Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.
Olkinuora A et al.
Cancers, 2020
32660107 (PubMed )
Supplement: cancers-12-01853-s001.zip › Supplementary_Files_olkinuora › Table_S2_olkinuora.xlsx › Table_S2
Utility of clinical exome sequencing in a complex Emirati pediatric cohort.
Mahfouz NA et al.
Computational and Structural Biotechnology Journal, 2020
Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy.
Lee J et al.
Frontiers in Pharmacology, 2020
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
23514105 (PubMed )
Supplement: 2040-2392-4-5-S5.xls › Sheet1
Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.
Jang MA et al.
Pediatric Neurology, 2012
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