Associated Papers
A naturally occurring canine model of syndromic congenital microphthalmia.
Murgiano L et al.
G3 (bethesda, Md.), 2024
Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
Kawashima N et al.
Haematologica, 2023
Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.
Feurstein S
Frontiers in Oncology, 2023
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
Uncovering the assembly pathway of human ribosomes and its emerging links to disease.
Bohnsack KE et al.
The Embo Journal, 2019
Refining the phenotype associated with biallelic DNAJC21 mutations.
D'Amours G et al.
Clinical Genetics, 2018
DNAJ Proteins in neurodegeneration: essential and protective factors.
Zarouchlioti C et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
Warren AJ
Advances in Biological Regulation, 2018
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
Tummala H et al.
American Journal of Human Genetics, 2016
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