Associated Papers
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_5
Genetic predisposition to immune dysregulation and extracellular matrix remodeling in cardiac arrhythmia reveals potential mediation by SPP1+ macrophages.
Jin JY et al.
Frontiers in Cell and Developmental Biology, 2025
40900730 (PubMed )
Supplement: Table1.xlsx › Table_S2
Pheochromocytoma/Paraganglioma Syndrome Type 1 Presenting with Atypical Symptoms and a Novel Pathogenic Variant in the SDHD Gene: A Case Report.
Zohrehvand E et al.
Archives of Iranian Medicine, 2024
39306716 (PubMed )
Supplement: aim-27-447-s001.xlsx › Variants_After_Filterations
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S et al.
Orphanet Journal of Rare Diseases, 2024
38956600 (PubMed )
Supplement: 13023_2024_3228_MOESM3_ESM.xlsx › dominant_inheritance
ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.
Seidel P et al.
Jci Insight, 2022
36413415 (PubMed )
Supplement: jciinsight-7-156087-s060.xlsx › RCC4
Multi-omics characterization reveals the pathogenesis of liver focal nodular hyperplasia.
Liu Y et al.
Iscience, 2022
36060063 (PubMed )
Supplement: mmc3.xlsx › Sheet1
A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.
Yuan Y et al.
Frontiers in Genetics, 2022
36159980 (PubMed )
Supplement: Table1.XLSX › InDel
Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.
Gingras MC et al.
Life Science Alliance, 2021
34301805 (PubMed )
Supplement: LSA-2020-00941_TableS4.xlsx › Table_S4
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Somatic_TSG_allVariants_
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
Sha Y et al.
Bmc Medical Genetics, 2019
31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Zhou Z et al.
Bmc Medical Genetics, 2018
30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2
Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.
Lu YW et al.
Plos One, 2016
27023146 (PubMed )
Supplement: pone.0152673.s002.xlsx › L1
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