Associated Papers
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
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
First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.
Wang Y et al.
Bmc Medical Genomics, 2022
35717189 (PubMed )
Supplement: 12920_2022_1285_MOESM2_ESM.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
Whole-exome sequencing reveals potential germline and somatic mutations in 60 malignant ovarian germ cell tumors†.
Chen J et al.
Biology of Reproduction, 2021
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
Clinicopathological characteristics and molecular abnormalities of primary grade 2 neuroendocrine tumors of the cervix.
Zhu R et al.
Diagnostic Pathology, 2019
Genomic alterations in gastric cancers discovered via whole-exome sequencing.
Zhang J et al.
Bmc Cancer, 2018
30567531 (PubMed )
Supplement: 12885_2018_5097_MOESM2_ESM.xlsx › Additional_files_Table_S2
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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