Associated Papers
Integrating genomic and transcriptome features for characterization and prognostic prediction of angioimmunoblastic T-cell lymphoma.
Wei C et al.
Annals of Hematology, 2025
Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2025
Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).
Ernst MPT et al.
Hemasphere, 2025
Detection and Interpretation of Clonal Hematopoiesis Variants during Routine Solid Tumor Next-Generation Sequencing: A Single-Institution Experience.
Menon A et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.
Newman H et al.
Haematologica, 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
Yield of genetic evaluation in non-syndromic pediatric moyamoya patients.
Slingerland AL et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
A Noonan-like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia.
Chida-Nagai A et al.
American Journal of Medical Genetics. Part A, 2023
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
Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a 2-center experience.
Diarra A et al.
Blood Advances, 2022
Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.
Hecht A et al.
Haematologica, 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
The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.
Ayala R et al.
Cancers, 2021
Juvenile myelomonocytic leukemia in CBL syndrome associated with germline splice-site mutations: Two case reports and a literature review.
Cardoso L et al.
Clinical Case Reports, 2021
Primary Graft Failure but Treatment Success: A Case of Reversion to Heterozygosity After Allogeneic Hematopoietic Cell Transplantation With Autologous Hematopoietic Recovery in a Child With CBL-related Juvenile Myelomonocytic Leukemia.
Oshrine B
Journal of Pediatric Hematology/oncology, 2021
Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases.
Li P et al.
Frontiers in Oncology, 2021
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.
Hong Y et al.
Neurology. Genetics, 2020
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.
Guey S et al.
Journal of Medical Genetics, 2017
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Martinelli S et al.
Human Mutation, 2015
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.
Bülow L et al.
American Journal of Medical Genetics. Part A, 2015
In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia.
Strullu M et al.
Leukemia, 2013
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.
Park HD et al.
Annals of Hematology, 2012
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
Niemeyer CM et al.
Nature Genetics, 2010
Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.
Muramatsu H et al.
Blood, 2010
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
Loh ML et al.
Blood, 2009