Associated Papers
Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature.
Mackley MP et al.
Clinical Genetics, 2026
Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies.
Bakhuizen JJ et al.
European Journal of Cancer (oxford, England : 1990), 2025
Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.
Marti S et al.
Hemasphere, 2025
40510848 (PubMed )
Supplement: HEM3-9-e70150-s002.xlsx › S1
ATR inhibition using gartisertib enhances cell death and synergises with temozolomide and radiation in patient-derived glioblastoma cell lines.
Lozinski M et al.
Oncotarget, 2024
38227740 (PubMed )
Supplement: oncotarget-15-28551-s001.pdf
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M et al.
International Journal of Molecular Sciences, 2021
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.
Cottineau J et al.
The Journal of Clinical Investigation, 2017
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