Associated Papers
Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts.
Eldomery MK et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 2025
Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.
Cunningham JL et al.
Developmental Neuroscience, 2025
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
"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S et al.
Acta Neuropathologica, 2023
Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.
Gao F et al.
Cancer Medicine, 2023
Mutational profiling of Chinese patients with thyroid cancer.
Du Y et al.
Frontiers in Endocrinology, 2023
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
PPM1D mutations are oncogenic drivers of de novo diffuse midline glioma formation.
Khadka P et al.
Nature Communications, 2022
Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion.
Byron SA et al.
Cancer Research, 2021
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.
Pitsava G et al.
American Journal of Medical Genetics. Part A, 2021
Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.
Gao F et al.
Frontiers in Genetics, 2021
Clinical and mutational profiles of adult medulloblastoma groups.
Wong GC et al.
Acta Neuropathologica Communications, 2020
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Bick AG et al.
Nature, 2020
Inhibition of mutant PPM1D enhances DNA damage response and growth suppressive effects of ionizing radiation in diffuse intrinsic pontine glioma.
Akamandisa MP et al.
Neuro-oncology, 2019
Clinically Relevant and Minimally Invasive Tumor Surveillance of Pediatric Diffuse Midline Gliomas Using Patient-Derived Liquid Biopsy.
Panditharatna E et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018
PPM1D Mutations Drive Clonal Hematopoiesis in Response to Cytotoxic Chemotherapy.
Hsu JI et al.
Cell Stem Cell, 2018
Tumor Variant Identification That Accounts for the Unique Molecular Landscape of Pediatric Malignancies.
Lorentzian A et al.
Jnci Cancer Spectrum, 2018
Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.
Jean S et al.
Oncotarget, 2016
Age-related mutations and chronic myelomonocytic leukemia.
Mason CC et al.
Leukemia, 2016
Inhibition of C-terminal truncated PPM1D enhances the effect of doxorubicin on cell viability in human colorectal carcinoma cell line.
Kozakai Y et al.
Bioorganic & Medicinal Chemistry Letters, 2014
Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas.
Zhang L et al.
Nature Genetics, 2014
Genetic variants and mutations of PPM1D control the response to DNA damage.
Dudgeon C et al.
Cell Cycle (georgetown, Tex.), 2013