Associated Papers
Unleashed condensation by recurrent mutations of an epigenetic regulator promotes cancer.
Song Y et al.
Biorxiv : the Preprint Server for Biology, 2026
Clonal haematopoiesis of indeterminate potential and mortality in coronary artery disease.
von Scheidt M et al.
European Heart Journal, 2026
A framework for the molecular identification of CHIP for clinical research.
Harraka P et al.
Hgg Advances, 2026
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.
Cheng WY et al.
Blood, 2025
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
Evaluation of Bridge Capture technology for mutation profiling in liquid biopsies of metastatic colorectal cancer patients.
Ganesan A et al.
Scientific Reports, 2025
Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.
Kato T et al.
British Journal of Cancer, 2025
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
A mutant ASXL1-EHMT complex contributes to heterochromatin dysfunction in clonal hematopoiesis and chronic monomyelocytic leukemia.
Dong Z et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis.
Demajo S et al.
Cancer Discovery, 2024
ASXL1 inactivation and reduced H3K27me3 across central nervous system tumors.
Zhang KY et al.
Acta Neuropathologica, 2024
The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.
Choi IY et al.
Blood Advances, 2024
Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119.
Köhnke T et al.
Blood Cancer Discovery, 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 and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.
Shiota M et al.
Bjc Reports, 2024
Aging and comprehensive molecular profiling in acute myeloid leukemia.
Li JF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis.
Stacey SN et al.
Nature Genetics, 2023
Ring Chromosomes in Hematological Malignancies Are Associated with TP53 Gene Mutations and Characteristic Copy Number Variants.
Boyd RJ et al.
Cancers, 2023
Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.
McCarter JGW et al.
Blood Advances, 2023
Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.
Uddin MM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.
von Scheidt M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
A reappraisal of ASXL1 mutation sites and the cohesin-binding motif in myeloid disease.
Johnson SM et al.
Blood Cancer Journal, 2023
Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.
Lin I et al.
Jci Insight, 2023
CNL and aCML should be considered as a single entity based on molecular profiles and outcomes.
Carreño-Tarragona G et al.
Blood Advances, 2023
ASXL1 mutations accelerate bone marrow fibrosis via EGR1-TNFA axis-mediated neoplastic fibrocyte generation in myeloproliferative neoplasms.
Shi Z et al.
Haematologica, 2023
Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.
Russell BE et al.
American Journal of Medical Genetics. Part A, 2023
Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.
Arniani S et al.
Leukemia, 2022
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Bhai P et al.
Current Oncology (toronto, Ont.), 2022
Mutant PPM1D- and TP53-Driven Hematopoiesis Populates the Hematopoietic Compartment in Response to Peptide Receptor Radionuclide Therapy.
Singh A et al.
Jco Precision Oncology, 2022
Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.
Avramović V et al.
Human Genomics, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.
Zhao W et al.
Frontiers in Pediatrics, 2021
Enrichment of Double RUNX1 Mutations in Acute Leukemias of Ambiguous Lineage.
Merati G et al.
Frontiers in Oncology, 2021
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.
Pinese M et al.
Nature Communications, 2020
The significance of genetic mutations and their prognostic impact on patients with incidental finding of isolated del(20q) in bone marrow without morphologic evidence of a myeloid neoplasm.
Ravindran A et al.
Blood Cancer Journal, 2020
Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.
Jiang L et al.
American Journal of Cancer Research, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A de novo truncating mutation in ASXL1 associated with segmental overgrowth.
Efthymiou S et al.
Journal of Genetics, 2019