Associated Papers
Expanding the phenotypic spectrum of DNAJC21-associated bone marrow failure syndrome: A single-centre experience.
Deshpande A et al.
British Journal of Haematology, 2026
Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort.
Hahn E et al.
Npj Genomic Medicine, 2025
39984494 (PubMed )
Supplement: 41525_2025_478_MOESM1_ESM.pdf
Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.
Guijarro F et al.
Blood Advances, 2023
Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.
Feurstein S
Frontiers in Oncology, 2023
37091189 (PubMed )
Supplement: Table_1.xlsx › DNAJC21
Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis.
Chirita-Emandi A et al.
Frontiers in Genetics, 2022
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019
Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations.
Palla S et al.
Blood Cells, Molecules & Diseases, 0
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