Associated Papers
Germline heterozygous SH2B3 p.Glu78Lys variant: a three-patient case series with myeloproliferative neoplasms.
Iaquinta G et al.
Experimental Hematology, 2026
Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region.
Velayutham D et al.
Cells, 2025
Mutation profiling of chronic myeloproliferative neoplasms: improving clinical-molecular prognostic models.
Loscocco GG et al.
Expert Review of Molecular Diagnostics, 2025
Diagnostic relevance of SH2B3 mutations in suspected myeloid malignancies and acute leukemia: insights from a large-scale NGS-based screening study.
Ben Dhia L et al.
Blood Cancer Journal, 2025
LNKing genotype to phenotype: the expanding clinical spectrum of SH2B3 disorders.
Attardi E et al.
European Journal of Human Genetics : Ejhg, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Molecular genetic characterization of mixed-phenotype acute leukemia (MPAL) with BCR::ABL1 fusion.
Shi S et al.
Leukemia Research, 2025
Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant.
Ranucci G et al.
Annals of Hematology, 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
Advances in Molecular Understanding of Polycythemia Vera, Essential Thrombocythemia, and Primary Myelofibrosis: Towards Precision Medicine.
Tashkandi H et al.
Cancers, 2024
Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.
Zhang Y et al.
The Journal of Experimental Medicine, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.
Wallen ZD et al.
Frontiers in Oncology, 2024
Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.
Bedics G et al.
Scientific Reports, 2023
Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.
McCarter JGW et al.
Blood Advances, 2023
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Al Anazi AH et al.
Human Genomics, 2022
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Bhai P et al.
Current Oncology (toronto, Ont.), 2022
Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.
Jahn N et al.
Leukemia, 2022
The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation.
Gundabolu K et al.
Case Reports in Genetics, 2022
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing.
Easwar A et al.
Life (basel, Switzerland), 2021
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.
Gargallo P et al.
Cancers, 2021
Integration of Molecular Information in Risk Assessment of Patients with Myeloproliferative Neoplasms.
Loscocco GG et al.
Cells, 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
Concomitant constitutive LNK and NFE2 mutation with loss of sumoylation in a case of hereditary thrombocythemia.
Clemens Böckelmann L et al.
Haematologica, 2021
New progress in the study of germline susceptibility genes of myeloid neoplasms.
Bi L et al.
Oncology Letters, 2021
Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.
Montaño A et al.
Journal of Personalized Medicine, 2020
Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia.
Alsultan A et al.
Pediatric Blood & Cancer, 2020
Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Bellanné-Chantelot C et al.
Blood Reviews, 2020
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Germline SH2B3 pathogenic variant associated with myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis.
Coltro G et al.
American Journal of Hematology, 2019
Somatic mutations and cell identity linked by Genotyping of Transcriptomes.
Nam AS et al.
Nature, 2019
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
The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders.
Maslah N et al.
Leukemia, 2017
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C et al.
Haematologica, 2016
LNK mutations and myeloproliferative disorders.
McMullin MF et al.
American Journal of Hematology, 2016