Associated Papers
Characteristics of gene mutations in Vietnamese pediatric patients with Inborn Errors of Immunity: a cross-sectional study.
Anh PNL et al.
Orphanet Journal of Rare Diseases, 2026
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
IKAROS regulates human T cell phenotype at a thymic and postthymic level.
Stoddard J et al.
Jci Insight, 2025
Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.
Cheng WY et al.
Blood, 2025
A novel IKZF1::FAM3C fusion associated with inversion of chromosome 7, inv(7)(p13q32), in relapsed acute myeloid leukemia.
Tang H et al.
Journal of Hematopathology, 2025
Long-term outcomes in FLT3-mutated acute myeloid leukemia after frontline hypomethylating agent, venetoclax and a FLT3 inhibitor.
Short NJ et al.
Haematologica, 2025
Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.
Yang X et al.
Human Genomics, 2025
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.
Ikoma Y et al.
Leukemia, 2025
The genomic landscape of acute myeloid leukemia: Redefining classifications, ontogeny, and therapeutic strategies.
Duployez N et al.
Seminars in Hematology, 2025
The IKZF1 N159S mutation is associated with poor outcome and a distinct molecular profile in adult patients with AML.
Stasik S et al.
British Journal of Haematology, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
DNA Methylation Array Analysis Identifies Biological Subgroups of Cutaneous Melanoma and Reveals Extensive Differences with Benign Melanocytic Nevi.
Schwendinger S et al.
Diagnostics (basel, Switzerland), 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA study.
Hirsch P et al.
Blood Cancer Journal, 2024
Mutant U2AF1-Induced Mis-Splicing of mRNA Translation Genes Confers Resistance to Chemotherapy in Acute Myeloid Leukemia.
Jin P et al.
Cancer Research, 2024
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
Kuehn HS et al.
The Journal of Clinical Investigation, 2024
Multifaceted roles of IKZF1 gene, perspectives from bench to bedside.
Feng L et al.
Frontiers in Oncology, 2024
Mutated IKZF1 is an independent marker of adverse risk in acute myeloid leukemia.
Eckardt JN et al.
Leukemia, 2023
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors.
Tsai HK et al.
The Journal of Molecular Diagnostics : Jmd, 2023
Next-Generation Sequencing-Based Genomic Profiling of Children with Acute Myeloid Leukemia.
Krizsán S et al.
The Journal of Molecular Diagnostics : Jmd, 2023
Reprogramming of Acute Myeloid Leukemia Patients Cells: Harboring Cancer Mutations Requires Targeting of AML Hierarchy.
Golubeva D et al.
Stem Cells Translational Medicine, 2023
Identification of IKZF1 genetic mutations as new molecular subtypes in acute myeloid leukaemia.
Wang Y et al.
Clinical and Translational Medicine, 2023
Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.
Kuehn HS et al.
Clinical and Experimental Immunology, 2023
Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels.
Äng C et al.
Frontiers in Immunology, 2023
Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.
Cheng WY et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Myelodysplastic Syndrome in a Patient With Common Variable Immunodeficiency: A Rare Occurrence.
Mateti NR et al.
Cureus, 2022
RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.
Kaisrlikova M et al.
Leukemia, 2022
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Adema V et al.
Ebiomedicine, 2022
Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.
González-López O et al.
Cancers, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
Genetic Characteristics According to Subgroup of Acute Myeloid Leukemia with Myelodysplasia-Related Changes.
Kang D et al.
Journal of Clinical Medicine, 2022