Associated Papers
Clonal haematopoiesis of indeterminate potential and mortality in coronary artery disease.
von Scheidt M et al.
European Heart Journal, 2026
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
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
Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.
Salzbrunn JB et al.
British Journal of Haematology, 2025
Telomere attrition becomes an instrument for clonal selection in aging hematopoiesis and leukemogenesis.
McLoughlin MA et al.
Nature Genetics, 2025
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Kotmayer L et al.
Blood Cancer Journal, 2025
JAK2 inhibition mediates clonal selection of RAS pathway mutations in myeloproliferative neoplasms.
Maslah N et al.
Nature Communications, 2025
Diagnosing recipient- vs. donor-derived posttransplant myelodysplastic neoplasm via targeted single-cell mutational profiling.
Ihlow J et al.
Med (new York, N.y.), 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
Impact of cancer therapy on clonal hematopoiesis mutations and subsequent clinical outcomes.
Nead KT et al.
Blood Advances, 2024
Influence of the Bone Marrow Microenvironment on Hematopoietic Stem Cell Behavior Post-Allogeneic Transplantation: Development of Clonal Hematopoiesis and Telomere Dynamics.
Kim M et al.
International Journal of Molecular Sciences, 2024
Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis.
Demajo S et al.
Cancer Discovery, 2024
Selective advantage of mutant stem cells in human clonal hematopoiesis is associated with attenuated response to inflammation and aging.
Jakobsen NA et al.
Cell Stem Cell, 2024
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.
McCarter JGW et al.
Blood Advances, 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
Impact of Clonal Architecture on Clinical Course and Prognosis in Patients With Myeloproliferative Neoplasms.
Luque Paz D et al.
Hemasphere, 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
Clinical and genetic characteristics in lymphoma patients with a second solid malignancy.
Zhou D et al.
Frontiers in Oncology, 2023
The telomerase inhibitor imetelstat differentially targets JAK2V617F versus CALR mutant myeloproliferative neoplasm cells and inhibits JAK-STAT signaling.
Olschok K et al.
Frontiers in Oncology, 2023
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.
Trotman J et al.
British Journal of Cancer, 2022
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.
Awamleh Z et al.
European Journal of Human Genetics : Ejhg, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
Association of clonal hematopoiesis with chronic obstructive pulmonary disease.
Miller PG et al.
Blood, 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
GATA2 deficiency syndrome: A decade of discovery.
Homan CC et al.
Human Mutation, 2021
The role of new technologies in myeloproliferative neoplasms: Application of next-generation sequencing in myelofibrosis.
Navrátilová J et al.
International Journal of Laboratory Hematology, 2021
Molecular profiling of basal cell carcinomas in young patients.
Abi Karam M et al.
Bmc Medical Genomics, 2021
Comprehensive molecular profiling of pulmonary pleomorphic carcinoma.
Nagano M et al.
Npj Precision Oncology, 2021
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Cuddapah VA et al.
American Journal of Medical Genetics. Part A, 2021
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
Kennedy AL et al.
Nature Communications, 2021
Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.
Ju Y et al.
Frontiers in Genetics, 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
Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape.
Fojo T et al.
Bmc Medical Genomics, 2020
ASXL1 mutation as a surrogate marker in acute myeloid leukemia with myelodysplasia-related changes and normal karyotype.
Prats-Martín C et al.
Cancer Medicine, 2020
Genomic landscape of platinum resistant and sensitive testicular cancers.
Loveday C et al.
Nature Communications, 2020
Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.
Jiang L et al.
American Journal of Cancer Research, 2020
Integration Analysis of JAK2 or RUNX1 Mutation With Bone Marrow Blast Can Improve Risk Stratification in the Patients With Lower Risk Myelodysplastic Syndrome.
Fang Y et al.
Frontiers in Oncology, 2020
A de novo truncating mutation in ASXL1 associated with segmental overgrowth.
Efthymiou S et al.
Journal of Genetics, 2019
Spectrum of ASXL1 mutations in primary myelofibrosis: prognostic impact of the ASXL1 p.G646Wfs*12 mutation.
Rotunno G et al.
Blood, 2019
Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development.
Matheus F et al.
Stem Cell Reports, 2019
Blastic plasmacytoid dendritic cell neoplasm: genomics mark epigenetic dysregulation as a primary therapeutic target.
Sapienza MR et al.
Haematologica, 2019