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
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
Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.
Yang X et al.
Human Genomics, 2025
JAK2 inhibition mediates clonal selection of RAS pathway mutations in myeloproliferative neoplasms.
Maslah N et al.
Nature Communications, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
Clonal hematopoiesis in patients with autoimmune thrombocytopenia: an international multicenter study.
Fattizzo B et al.
Blood Advances, 2025
Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.
Tandukar B et al.
Biorxiv : the Preprint Server for Biology, 2024
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
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
Targeted NGS analysis reveals a complex genetic background of idiopathic erythrocytosis in a large Venetian family.
Bertozzi I et al.
Genes & Diseases, 2024
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
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3).
Ayoub MC et al.
Frontiers in Neuroscience, 2023
The characteristics and clinical prognosis analysis of ASXL1 mutations in Chinese adult patients with primary cytogenetically normal acute myeloid leukemia by next-generation sequencing.
Xu J et al.
Leukemia & Lymphoma, 2022
ASXL1 mutations predict inferior molecular response to nilotinib treatment in chronic myeloid leukemia.
Schönfeld L et al.
Leukemia, 2022
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Adema V et al.
Ebiomedicine, 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
Genomic Progression of Precancerous Actinic Keratosis to Squamous Cell Carcinoma.
Kim YS et al.
The Journal of Investigative Dermatology, 2022
Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway.
Zhang X et al.
Cancer Cell International, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E et al.
Plos Genetics, 2021
Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.
Lee Y et al.
Cancer Research and Treatment, 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
Strategy for identification of a potential inherited leukemia predisposition in a 299 patient's cohort with tumor-only sequencing data.
Aguilera-Diaz A et al.
Leukemia Research, 2020
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
Spectrum of ASXL1 mutations in primary myelofibrosis: prognostic impact of the ASXL1 p.G646Wfs*12 mutation.
Rotunno G et al.
Blood, 2019
The assessment of minimal residual disease versus that of somatic mutations for predicting the outcome of acute myeloid leukemia patients.
Salehzadeh S et al.
Cancer Cell International, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Prediction of acute myeloid leukaemia risk in healthy individuals.
Abelson S et al.
Nature, 2018
Epigenetic changes in myelofibrosis: Distinct methylation changes in the myeloid compartments and in cases with ASXL1 mutations.
Nielsen HM et al.
Scientific Reports, 2017
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Carlston CM et al.
Human Mutation, 2017
The Role of Additional Sex Combs-Like Proteins in Cancer.
Micol JB et al.
Cold Spring Harbor Perspectives in Medicine, 2016
Myeloid neoplasms with isolated isochromosome 17q demonstrate a high frequency of mutations in SETBP1, SRSF2, ASXL1 and NRAS.
Kanagal-Shamanna R et al.
Oncotarget, 2016
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
ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia.
Gelsi-Boyer V et al.
British Journal of Haematology, 2010
High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression.
Boultwood J et al.
Leukemia, 2010