Associated Papers
Clonal haematopoiesis of indeterminate potential and mortality in coronary artery disease.
von Scheidt M et al.
European Heart Journal, 2026
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 2025
Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.
Salzbrunn JB et al.
British Journal of Haematology, 2025
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Kotmayer L et al.
Blood Cancer Journal, 2025
Genetic profile of ASXL1 gene in risk assessment in acute myeloid leukemia.
Bamusa SA et al.
Bmc Genomic Data, 2025
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation.
Arioka M et al.
European Journal of Medical Genetics, 2024
Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis.
Demajo S et al.
Cancer Discovery, 2024
Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes.
Kim JJ et al.
Cancer Research and Treatment, 2024
Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.
McCarter JGW et al.
Blood Advances, 2023
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.
Pitts HA et al.
International Journal of Molecular Sciences, 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
The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.
Pettersson H et al.
Frontiers in Oncology, 2023
RUNX1/CEBPA Mutation in Acute Myeloid Leukemia Promotes Hypermethylation and Indicates for Demethylation Therapy.
Romanova EI et al.
International Journal of Molecular Sciences, 2022
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
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 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
A de novo truncating mutation in ASXL1 associated with segmental overgrowth.
Efthymiou S et al.
Journal of Genetics, 2019
Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.
Nagata Y et al.
Nature Communications, 2019
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.
Urreizti R et al.
Clinical Case Reports, 2018
Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders.
Ropers HH et al.
European Journal of Medical Genetics, 2015
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Xie M et al.
Nature Medicine, 2014
The clinical significance of small copy number variants in neurodevelopmental disorders.
Asadollahi R et al.
Journal of Medical Genetics, 2014
ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome.
Schnittger S et al.
Leukemia, 2013
Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.
Gelsi-Boyer V et al.
Journal of Hematology & Oncology, 2012
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
Hoischen A et al.
Nature Genetics, 2011