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
Endometrioid ovarian carcinoma landscape: pathological and molecular characterization.
de Nonneville A et al.
Molecular Oncology, 2024
Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression.
Bang S et al.
Cancers, 2023
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
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
Serial monitoring of genomic alterations in circulating tumor cells of ER-positive/HER2-negative advanced breast cancer: feasibility of precision oncology biomarker detection.
Cani AK et al.
Molecular Oncology, 2022
Deleterious mutations in esophageal carcinoma cuniculatum detected by next generation sequencing.
Yin F et al.
International Journal of Clinical and Experimental Pathology, 2022
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 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
Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.
Ramberg I et al.
Investigative Ophthalmology & Visual Science, 2021
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.
Brodehl A et al.
International Journal of Molecular Sciences, 2021
Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.
Priedigkeit N et al.
Breast Cancer Research : Bcr, 2021
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Kumar K et al.
Bmc Medical Genetics, 2020
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Chirita-Emandi A et al.
Scientific Reports, 2020
SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2.
Burgener AV et al.
Nature Immunology, 2019
Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.
Nicolas E et al.
Molecular Genetics & Genomic Medicine, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018