Associated Papers
Succinate dehydrogenase deficiency-driven succinate accumulation induces drug resistance in acute myeloid leukemia via ubiquitin-cullin regulation.
Chen Y et al.
Nature Communications, 2024
39537588 (PubMed )
Supplement: 41467_2024_53398_MOESM1_ESM.pdf
Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases.
Lin L et al.
Prenatal Diagnosis, 2024
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list
Var∣Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing data.
Salma M et al.
Epigenetics & Chromatin, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants
Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing.
Xing J et al.
Open Life Sciences, 2023
Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.
Ju HY et al.
Cancers, 2022
35626111 (PubMed )
Supplement: cancers-14-02506-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S2
Deleterious mutations in esophageal carcinoma cuniculatum detected by next generation sequencing.
Yin F et al.
International Journal of Clinical and Experimental Pathology, 2022
Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.
Zhan Q et al.
Ebiomedicine, 2021
34839264 (PubMed )
Supplement: mmc5.xlsx › Sheet1
Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.
Priedigkeit N et al.
Breast Cancer Research : Bcr, 2021
33407744 (PubMed )
Supplement: 13058_2020_1379_MOESM2_ESM.xlsx › S4
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Kumar K et al.
Bmc Medical Genetics, 2020
32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
32277576 (PubMed )
Supplement: JCMM-24-4931-s008.xlsx › Sheet1
Tumorigenicity-associated characteristics of human iPS cell lines.
Yasuda S et al.
Plos One, 2018
30286143 (PubMed )
Supplement: pone.0205022.s007.xlsx › Sheet1
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