about
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignanciesA novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.A four-gene LincRNA expression signature predicts risk in multiple cohorts of acute myeloid leukemia patients.Spatiotemporal regulation of multiple overlapping sense and novel natural antisense transcripts at the Nrgn and Camk2n1 gene loci during mouse cerebral corticogenesis.Chronic increases in sphingosine kinase-1 activity induce a pro-inflammatory, pro-angiogenic phenotype in endothelial cells.Regulation of vascular leak and recovery from ischemic injury by general and VE-cadherin-restricted miRNA antagonists of miR-27.Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II).Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes.T cell receptor assessment in autoimmune disease requires access to the most adjacent immunologically active organ.A Method for Next-Generation Sequencing of Paired Diagnostic and Remission Samples to Detect Mitochondrial DNA Mutations Associated with LeukemiaThe mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distributionSpliceosome mutations in hematopoietic malignanciesPoor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genesStress-induced premature senescence mediated by a novel gene, SENEX, results in an anti-inflammatory phenotype in endothelial cellsNovel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndromeClinical implications of transient myeloproliferative disorder in a neonate without Down syndrome featuresGATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AMLCorrect application of variant classification guidelines in germline RUNX1 mutated disorders to assist clinical diagnosisIdentification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemiaGenomic subtyping and therapeutic targeting of acute erythroleukemiaA synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability
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investigador
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C N Hahn
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C N Hahn
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C N Hahn
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0000-0001-5105-2554