Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Common origin and somatic mutation patterns of composite lymphomas and leukemias.
Berg V et al.
Leukemia, 2025
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Kotmayer L et al.
Blood Cancer Journal, 2025
Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z et al.
Blood, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
KAT6A::EP300 fusion in congenital myeloid sarcoma: Yet another novel molecular marker indicating spontaneous remission?: A case report.
Hosahalli Vasanna S et al.
Medicine, 2023
Human Metastatic Cholangiocarcinoma Patient-Derived Xenografts and Tumoroids for Preclinical Drug Evaluation.
Serra-Camprubí Q et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Molecular and immunophenotypic characterization of SMARCB1 (INI1) - deficient intrathoracic Neoplasms.
Haberecker M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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
Germline mutations among Polish patients with acute myeloid leukemia.
Bąk A et al.
Hereditary Cancer in Clinical Practice, 2021
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
A clinical transcriptome approach to patient stratification and therapy selection in acute myeloid leukemia.
Docking TR et al.
Nature Communications, 2021
The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).
Bisgin A et al.
Scientific Reports, 2021
Melanoma with in-frame deletion of MAP2K1: a distinct molecular subtype of cutaneous melanoma mutually exclusive from BRAF, NRAS, and NF1 mutations.
Williams EA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 2020
First Report of Sorafenib in Patients With Acute Myeloid Leukemia Harboring Non-Canonical FLT3 Mutations.
Daver N et al.
Frontiers in Oncology, 2020
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Loss of human ICOSL results in combined immunodeficiency.
Roussel L et al.
The Journal of Experimental Medicine, 2018
Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.
Palsgrove DN et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.
Sun JX et al.
Plos Computational Biology, 2018
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 2018
A pilot study evaluating concordance between blood-based and patient-matched tumor molecular testing within pancreatic cancer patients participating in the Know Your Tumor (KYT) initiative.
Pishvaian MJ et al.
Oncotarget, 2017
GATA2 gene analysis in several forms of hematological malignancies including familial aggregations.
Hamadou WS et al.
Annals of Hematology, 2017
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Padovan-Merhar OM et al.
Plos Genetics, 2016
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Lu C et al.
Cold Spring Harbor Molecular Case Studies, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity.
Johnson KD et al.
The Journal of Clinical Investigation, 2012