Associated Papers
Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.
Fekadu-Siebald J et al.
Blood Advances, 2025
How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.
Hidalgo-Gómez G et al.
Annals of Hematology, 2025
39843811 (PubMed )
Supplement: 277_2024_6151_MOESM1_ESM.xlsx › S1._Genetics_data
Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants.
Ye L et al.
Bmc Genomics, 2024
GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.
Takasaki K et al.
Advances in Experimental Medicine and Biology, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf
Diamond-Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1.
Chen T et al.
Clinical Genetics, 2022
Concurrent detection of targeted copy number variants and mutations using a myeloid malignancy next generation sequencing panel allows comprehensive genetic analysis using a single testing strategy.
Shen W et al.
British Journal of Haematology, 2016
Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia.
Kanezaki R et al.
Blood, 2010
Detection of mutations in GATA1 gene using automated denaturing high-performance liquid chromatography and direct sequencing in children with Down syndrome.
Amorim MR et al.
Leukemia & Lymphoma, 2009
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