Associated Papers
Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.
Tang QY et al.
Imetaomics, 2025
41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.
Herencia-Ropero A et al.
Genome Medicine, 2024
39187844 (PubMed )
Supplement: 13073_2024_1370_MOESM3_ESM.xlsx › SNV
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.
Linder A et al.
Human Reproduction (oxford, England), 2024
38459814 (PubMed )
Supplement: deae043_supplementary_table_s6.xlsx › Shared_mutations
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A et al.
Npj Breast Cancer, 2022
35768433 (PubMed )
Supplement: 41523_2022_443_MOESM6_ESM.xlsx › Non_-_truncating_variants
Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure.
Henarejos-Castillo I et al.
Journal of Personalized Medicine, 2021
34199109 (PubMed )
Supplement: jpm-11-00609-s001.zip › jpm-1233323-supplementary.pdf
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Toulmonde M et al.
Ebiomedicine, 2020
33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered
Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.
Jiang P et al.
Frontiers in Genetics, 2019
31440271 (PubMed )
Supplement: Table_1.xlsx › SS-based_coding_variants
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