Associated Papers
Odevixibat treatment in an adult patient with advanced icteric progressive cholestatic liver disease.
Herta T et al.
Jhep Reports : Innovation in Hepatology, 2024
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P et al.
European Journal of Human Genetics : Ejhg, 2023
Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.
Kommoss FKF et al.
Nature Communications, 2023
A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.
Warrick JI et al.
Scientific Reports, 2022
High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.
Palafox M et al.
Nature Communications, 2022
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Gounder MM et al.
Nature Communications, 2022
Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.
Kim SC et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022
Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.
Guan T et al.
Frontiers in Oncology, 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
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Heft Neal ME et al.
Bmc Cancer, 2021
Targeted sequencing of NOTCH signaling pathway genes and association analysis of variants correlated with mandibular prognathism.
Han X et al.
Head & Face Medicine, 2021
Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.
Pandey K et al.
Genes, 2021
PARP inhibitor resistance and TP53 mutations in patients treated with olaparib for BRCA-mutated cancer: Four case reports.
Collot T et al.
Molecular Medicine Reports, 2021
High-throughput screening reveals novel mutations in spinal muscular atrophy patients.
Zhang R et al.
Italian Journal of Pediatrics, 2020
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Scholl SM et al.
Ebiomedicine, 2020
Hints from a Female Patient with Breast Cancer Who Later Presented with Cowden Syndrome.
Wang WC et al.
Journal of Breast Cancer, 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
Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.
Singh R et al.
Plos One, 2020
Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.
Zhou QH et al.
Cell Death & Disease, 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
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL et al.
Hepatology (baltimore, Md.), 2017
Novel near-diploid ovarian cancer cell line derived from a highly aneuploid metastatic ovarian tumor.
Rozenblum E et al.
Plos One, 2017
Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.
Lu YW et al.
Plos One, 2016
Frequency and distribution of Notch mutations in tumor cell lines.
Mutvei AP et al.
Bmc Cancer, 2015
Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours.
Rakheja D et al.
Nature Communications, 2014