Associated Papers
Low-VAF TP53-Mutated AML Displays Distinct Biological Features in a Single-Center Cohort.
Lu X et al.
Biomedicines, 2026
Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.
Morote-Faubel M et al.
Human Genomics, 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
Prevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis.
Sun X 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
Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.
Marshall CH et al.
Cancers, 2025
Clinical management of three JMML siblings with germline CBL variation.
Agaoglu NB et al.
Cancer Genetics, 2025
Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.
Vasquez YA et al.
Npj Precision Oncology, 2025
A microglia clonal inflammatory disorder in Alzheimer's disease.
Vicario R et al.
Elife, 2025
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.
Bohlen J et al.
The Journal of Clinical Investigation, 2024
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Unidirectional association of clonal hematopoiesis with atherosclerosis development.
Díez-Díez M et al.
Nature Medicine, 2024
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.
Halik A et al.
Journal of Hematology & Oncology, 2024
A microglia clonal inflammatory disorder in Alzheimer's Disease.
Vicario R et al.
Biorxiv : the Preprint Server for Biology, 2024
Observation and Management of Juvenile Myelomonocytic Leukemia and Noonan Syndrome-Associated Myeloproliferative Disorder: A Real-World Experience.
Lucas BJ et al.
Cancers, 2024
Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review.
Munoz-Osores E et al.
Transplant Immunology, 2024
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
Molecular Genetic Profile of Myelofibrosis: Implications in the Diagnosis, Prognosis, and Treatment Advancements.
Verma T et al.
Cancers, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Clinical and molecular features of CBL-mutated juvenile myelomonocytic leukemia.
Yoshida T et al.
Haematologica, 2023
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Clinical Characteristics and Outcomes of Patients with Primary and Secondary Myelofibrosis According to the Genomic Classification Using Targeted Next-Generation Sequencing.
Garrote M et al.
Cancers, 2023
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
Transient immune deficiency accompanied with homozygous CBL rare variant.
Morishita A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2023
RASopathies and cardiac manifestations.
Hilal N et al.
Frontiers in Cardiovascular Medicine, 2023
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Andrade NLM et al.
Endocrine Connections, 2022
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.
Onesimo R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Lenalidomide promotes the development of TP53-mutated therapy-related myeloid neoplasms.
Sperling AS et al.
Blood, 2022
Circulating Tumor DNA: Less Invasive, More Representative Method to Unveil the Genomic Landscape of Newly Diagnosed Multiple Myeloma Than Bone Marrow Aspirates.
Liu Y et al.
Cancers, 2022
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Adema V et al.
Ebiomedicine, 2022
The longitudinal dynamics and natural history of clonal haematopoiesis.
Fabre MA et al.
Nature, 2022
Acetylation, Phosphorylation, Ubiquitination (Oh My!): Following Post-Translational Modifications on the Ubiquitin Road.
Lacoursiere RE et al.
Biomolecules, 2022
Role of CBL Mutations in Cancer and Non-Malignant Phenotype.
Leardini D et al.
Cancers, 2022
The RASopathies: from pathogenetics to therapeutics.
Hebron KE et al.
Disease Models & Mechanisms, 2022
Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.
Hecht A et al.
Haematologica, 2022
Mutational landscape of chronic myelomonocytic leukemia and its potential clinical significance.
Han W et al.
International Journal of Hematology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome.
Saettini F et al.
Frontiers in Pediatrics, 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