Associated Papers
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Kotmayer L et al.
Blood Cancer Journal, 2025
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.
Halik A et al.
Journal of Hematology & Oncology, 2024
Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA study.
Hirsch P et al.
Blood Cancer Journal, 2024
Establishment and validation of a gene mutation-based risk model for predicting prognosis and therapy response in acute myeloid leukemia.
Liu Y et al.
Heliyon, 2024
Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.
Kandarpa M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.
Wallen ZD et al.
Frontiers in Oncology, 2024
Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.
Cheng CK et al.
Communications Biology, 2023
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.
Medeiros JJF et al.
Bioinformatics (oxford, England), 2022
CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.
Gutiontov SI et al.
Scientific Reports, 2021
Juvenile myelomonocytic leukemia in CBL syndrome associated with germline splice-site mutations: Two case reports and a literature review.
Cardoso L et al.
Clinical Case Reports, 2021
Heterogeneous disease-propagating stem cells in juvenile myelomonocytic leukemia.
Louka E et al.
The Journal of Experimental Medicine, 2021
RNA sequencing as an alternative tool for detecting measurable residual disease in core-binding factor acute myeloid leukemia.
Kim T et al.
Scientific Reports, 2020
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Lee JW et al.
Plos One, 2019
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.
Seaby EG et al.
Frontiers in Pediatrics, 2017
Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms.
Au CH et al.
Diagnostic Pathology, 2016
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Martinelli S et al.
Human Mutation, 2015
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.
Bülow L et al.
American Journal of Medical Genetics. Part A, 2015
Long-term survival after nonintensive chemotherapy in some juvenile myelomonocytic leukemia patients with CBL mutations, and the possible presence of healthy persons with the mutations.
Matsuda K et al.
Blood, 2010
Immune checkpoint inhibitor in recurrent hypermutated glioblastoma with POLE mutation.
Sathornsumetee S et al.
Neuro-oncology Advances, 0
Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors.
O'Halloran K et al.
Neuro-oncology Advances, 0