Associated Papers
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 2025
41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › sitednds_oral
Case Report: Novel truncating PPM1D variant in a dichorionic diamniotic (DCDA) twin with Jansen-de Vries syndrome. an updated perspective.
Merida De la Torre FJ et al.
Frontiers in Genetics, 2025
40630121 (PubMed )
Supplement: Table1.xlsx › Table_S1
Clonal hematopoiesis with DNMT3A and PPM1D mutations impairs regeneration in autologous stem cell transplant recipients.
Stelmach P et al.
Haematologica, 2023
37381752 (PubMed )
Supplement: 2023_282992_STELMACH_SUPPL.pdf
Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen-de Vries syndrome.
Li Z et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Jansen S et al.
American Journal of Human Genetics, 2017
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