Associated Papers
Dynamics of clonal hematopoiesis and cellular responses to stress-induced toxicity in autologous stem cell transplantation.
Stein CM et al.
Leukemia, 2026
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
Clonal Evolution of PPM1D Mutations in the Spectrum of Myeloid Disorders.
Fandrei D et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.
George SL et al.
Cancer Discovery, 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
Dynamics of clonal hematopoiesis under DNA-damaging treatment in patients with ovarian cancer.
Arends CM et al.
Leukemia, 2024
Clonal evolution of hematopoietic stem cells after cancer chemotherapy.
Uryu H et al.
Biorxiv : the Preprint Server for Biology, 2024
Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.
Li T et al.
Cancer Medicine, 2024
Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.
Uddin MM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
A Compendium of Syngeneic, Transplantable Pediatric High-Grade Glioma Models Reveals Subtype-Specific Therapeutic Vulnerabilities.
McNicholas M et al.
Cancer Discovery, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik MH et al.
American Journal of Medical Genetics. Part A, 2023
Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.
Gurioli G et al.
International Journal of Molecular Sciences, 2022
Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.
Gutierrez-Rodrigues F et al.
Haematologica, 2022
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Kar SP et al.
Nature Genetics, 2022
The longitudinal dynamics and natural history of clonal haematopoiesis.
Fabre MA et al.
Nature, 2022
TET2-Driven Clonal Hematopoiesis and Response to Canakinumab: An Exploratory Analysis of the CANTOS Randomized Clinical Trial.
Svensson EC et al.
Jama Cardiology, 2022
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.
Medeiros JJF et al.
Bioinformatics (oxford, England), 2022
PPM1D mutations are oncogenic drivers of de novo diffuse midline glioma formation.
Khadka P et al.
Nature Communications, 2022
Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory.
O'Brien TD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.
Shen F et al.
Frontiers in Oncology, 2022
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.
Kiefer KC et al.
Esc Heart Failure, 2021
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
The transcriptional landscape of Shh medulloblastoma.
Skowron P et al.
Nature Communications, 2021
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Bick AG et al.
Nature, 2020
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H et al.
Nature Communications, 2019
Spinal cord high-grade infiltrating gliomas in adults: clinico-pathological and molecular evaluation.
Alvi MA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.
Weber-Lassalle K et al.
Human Mutation, 2018
Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.
Wong TN et al.
Nature Communications, 2018
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
Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.
Luhrs K et al.
Autism Research and Treatment, 2017
Truncating and missense PPM1D mutations in early-onset and/or familial/hereditary prostate cancer patients.
Cardoso M et al.
Genes, Chromosomes & Cancer, 2016
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma.
Nikbakht H et al.
Nature Communications, 2016
PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
Pharoah PDP et al.
Journal of the National Cancer Institute, 2016
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014
The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.
Wu G et al.
Nature Genetics, 2014
Clinical, radiologic, and genetic characteristics of histone H3 K27M-mutant diffuse midline gliomas in adults.
Schulte JD et al.
Neuro-oncology Advances, 0