Associated Papers
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
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement.
Leardini D et al.
European Journal of Human Genetics : Ejhg, 2025
LNK/SH2B3 as a novel driver in juvenile myelomonocytic leukemia.
Wintering A et al.
Haematologica, 2024
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Saevarsdottir S et al.
Nature Communications, 2024
Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.
Petrazzini BO et al.
Nature Genetics, 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
Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.
Lemoine S et al.
Haematologica, 2022
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Bhai P et al.
Current Oncology (toronto, Ont.), 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
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
Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Bellanné-Chantelot C et al.
Blood Reviews, 2020
Germline SH2B3 pathogenic variant associated with myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis.
Coltro G et al.
American Journal of Hematology, 2019
Myelodysplastic Syndrome/Acute Myeloid Leukemia Arising in Idiopathic Erythrocytosis.
Langabeer SE et al.
Case Reports in Hematology, 2018
Mutations in the DNA methylation pathway and number of driver mutations predict response to azacitidine in myelodysplastic syndromes.
Cedena MT et al.
Oncotarget, 2017
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
Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells.
Giani FC et al.
Cell Stem Cell, 2016
The genomic landscape of juvenile myelomonocytic leukemia.
Stieglitz E et al.
Nature Genetics, 2015
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.
Auer PL et al.
Nature Genetics, 2014
Analysis of common and coding variants with cardiovascular disease in the Diabetes Heart Study.
Adams JN et al.
Cardiovascular Diabetology, 2014
Role of the adaptor protein LNK in normal and malignant hematopoiesis.
Gery S et al.
Oncogene, 2013
A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis.
McMullin MF et al.
American Journal of Hematology, 2011