Associated Papers
High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans.
Kim J et al.
The Journal of Molecular Diagnostics : Jmd, 2026
B-cell acute lymphoblastic leukemia following myelodysplastic syndromes: a case report and literature review.
Ding H et al.
Journal of Hematopathology, 2026
Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.
Vernimmen V et al.
Human Reproduction (oxford, England), 2026
Common gene mutations in 103 authenticated colorectal cancer cell lines.
Kranjec C et al.
Oncogenesis, 2026
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
Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies.
Huang J et al.
Scientific Reports, 2025
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 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
Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.
George SL et al.
Cancer Discovery, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
Uncovering novel pathogenic variants and pathway mutations in triple-negative breast cancer among the endogamous mizo tribe.
Pachuau L et al.
Breast Cancer Research and Treatment, 2025
Preclinical NCI-MPACT: prospective modeling of the mutation-based NCI-MPACT clinical trial therapeutic strategy in patient-derived xenograft models.
Evrard YA et al.
Frontiers in Oncology, 2025
The SOS1 Inhibitor MRTX0902 Blocks KRAS Activation and Demonstrates Antitumor Activity in Cancers Dependent on KRAS Nucleotide Loading.
Sudhakar N et al.
Molecular Cancer Therapeutics, 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
Genotype-phenotype correlations and treatment innovation of neurofibromatosis type 1 (NF1): Current understanding and perspective.
Zhu B et al.
Chinese Medical Journal, 2024
A Comprehensive Overview of NF1 Mutations in Iranian Patients.
Savad S et al.
Neuromolecular Medicine, 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
Distinct senescence mechanisms restrain progression of dysplastic nevi.
Lorbeer FK et al.
Pnas Nexus, 2024
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.
Guerrini-Rousseau L et al.
Journal of Medical Genetics, 2024
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
Case report: The first account of undifferentiated sarcoma with epithelioid features originating in the pleura.
Xiao LX et al.
Frontiers in Medicine, 2024
Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.
Yang LP et al.
Cell Reports. Medicine, 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
Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants
Gjorgjievska M et al.
Balkan Medical Journal, 2023
Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.
Fitzgerald S et al.
Molecular Diagnosis & Therapy, 2023
Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers.
Xie J et al.
Bmc Cancer, 2023
The molecular and functional landscape of resistance to immune checkpoint blockade in melanoma.
Lim SY et al.
Nature Communications, 2023
Genomic and Transcriptomic Analyses of NF1-Mutant Melanoma Identify Potential Targeted Approach for Treatment.
Jour G et al.
The Journal of Investigative Dermatology, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Napolitano F et al.
Genes, 2022
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M et al.
Blood Cancer Discovery, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Clinical significance of RAS pathway alterations in pediatric acute myeloid leukemia.
Kaburagi T et al.
Haematologica, 2022
Neurofibromin and suppression of tumorigenesis: beyond the GAP.
Mo J et al.
Oncogene, 2022
CPX-351 induces remission in newly diagnosed pediatric secondary myeloid malignancies.
Hu Y et al.
Blood Advances, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Riva M et al.
Genes, Chromosomes & Cancer, 2022
Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance.
Tak E et al.
Oncology Reports, 2022
Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.
Georgoulias G et al.
Frontiers in Immunology, 2022