Associated Papers
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.
Zhang H et al.
International Journal of Cancer, 2025
Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.
Temena MA et al.
Scientific Reports, 2025
Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection.
Li J et al.
Frontiers in Immunology, 2025
Case Report: Genomic and clinical insights into MYBPC3-related hypertrophic cardiomyopathy in Ecuadorian patients: implications for sudden cardiac death risk.
Paz-Cruz E et al.
Frontiers in Cardiovascular Medicine, 2025
Endometrioid ovarian carcinoma landscape: pathological and molecular characterization.
de Nonneville A et al.
Molecular Oncology, 2024
Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.
Shiota M et al.
Bjc Reports, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
Renal neuroendocrine tumors: clinical and molecular pathology with an emphasis on frequent association with ectopic Cushing syndrome.
Kasajima A et al.
Virchows Archiv : an International Journal of Pathology, 2023
Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report.
Ürey BC et al.
Molecular Syndromology, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
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
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?
Chang TY et al.
Diagnostics (basel, Switzerland), 2021
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
Somatic SDHA mutations in paragangliomas in siblings: Case report of 2 cases.
Huang YC et al.
Medicine, 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
Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.
Wang J et al.
Molecular Genetics & Genomic Medicine, 2019
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.
Pouliot GP et al.
Plos One, 2019
Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.
Burns MA et al.
Leukemia, 2018
Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia.
Huang H et al.
Cardiology in the Young, 2018
High throughput gene sequencing reveals altered landscape in DNA damage responses and chromatin remodeling in sporadic pancreatic neuroendocrine tumors.
Ji S et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2018
A Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and Systematic Review.
Peng W et al.
Case Reports in Nephrology and Dialysis, 0