Associated Papers
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.
Wang K et al.
Journal of Human Genetics, 2025
Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.
Abel HJ et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.
Voss RK et al.
Leukemia, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Di Giosaffatte N et al.
Breast (edinburgh, Scotland), 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.
Selig M et al.
Febs Open Bio, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
Resolving intra-tumor heterogeneity and clonal evolution of core-binding factor acute myeloid leukemia patients with single-cell resolution.
Hablesreiter R et al.
Experimental Hematology & Oncology, 2025
Selumetinib Treatment in a Neurofibromatosis Type 1 Child With Second Hit Mutation on the NF1 Gene.
Su S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.
Zheng Y et al.
Human Molecular Genetics, 2025
MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors.
Miller AR et al.
Bmc Cancer, 2025
Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies.
Huang J et al.
Scientific Reports, 2025
A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.
Galbo PM et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.
Fei H et al.
Orphanet Journal of Rare Diseases, 2025
Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.
Chow RD et al.
Blood Advances, 2025
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
MET amplification correlates with poor prognosis and immunotherapy response as a subtype of melanoma: a multicenter retrospective study.
Cai X et al.
Bmc Cancer, 2024
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 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
Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.
Chow RD et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA study.
Hirsch P et al.
Blood Cancer Journal, 2024
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
Comprehensive molecular findings in primary malignant melanoma of the esophagus: A multicenter study.
Deng L et al.
Pigment Cell & Melanoma Research, 2024
The immune response-related genomic alterations in patients with malignant melanoma.
Li L et al.
Medicine, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Glioma genetic profiles associated with electrophysiologic hyperexcitability.
Tobochnik S et al.
Neuro-oncology, 2024
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
Ramamoorthy S et al.
British Journal of Haematology, 2024
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 2024
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.
Guerrini-Rousseau L et al.
Journal of Medical Genetics, 2024
Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.
McCarter JGW et al.
Blood Advances, 2023
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
Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.
Hao S et al.
Cancer Medicine, 2023
Clinical significance of genetic profiling based on different anatomic sites in patients with mucosal melanoma who received or did not receive immune checkpoint inhibitors.
Wang HY et al.
Cancer Cell International, 2023
High-grade serous ovarian carcinoma organoids as models of chromosomal instability.
Vias M et al.
Elife, 2023
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Ognibene M et al.
Cancers, 2023
Clinical and molecular characteristics of kinase domain duplications across diverse cancer types in the Chinese population.
Lai X et al.
Cancer Medicine, 2023
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A et al.
Nature Cancer, 2023