Associated Papers
Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.
Lai A et al.
Neoplasia (new York, N.y.), 2025
Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.
Morote-Faubel M et al.
Human Genomics, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Co-Occurrence of Dysembryoplastic Neuroepithelial Tumor and Hodgkin Lymphoma in a Patient with Noonan Syndrome and Mutation in the PTPN11 Gene.
Pellicciari CR et al.
Hormone Research in Paediatrics, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
PPM1D Mutation as a Distinct Feature of Myeloid Neoplasms in B-Cell Non-Hodgkin Lymphoma Patients: A Retrospective Analysis.
Kim H et al.
Cancers, 2025
RSK1 is an exploitable dependency in myeloproliferative neoplasms and secondary acute myeloid leukemia.
Kong T et al.
Nature Communications, 2025
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.
Halik A et al.
Journal of Hematology & Oncology, 2024
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Zucco J et al.
Journal of Human Genetics, 2024
Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.
Kandarpa M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.
Tam CS et al.
Blood Advances, 2024
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities.
Liu Y et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.
Vilela J et al.
Biomedicines, 2023
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
Protein Tyrosine Phosphatase Non-Receptor 11 (PTPN11/Shp2) as a Driver Oncogene and a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC).
Richards CE et al.
International Journal of Molecular Sciences, 2023
Acute myeloid leukemia with concurrent NPM1 and RUNX1 mutations.
Zuo Z et al.
Leukemia Research Reports, 2023
Clinical Characteristics and Prognosis of Acute Myeloid Leukemia Patients with Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation.
Huang R et al.
Pharmacogenomics and Personalized Medicine, 2023
Serial Profiling of Circulating Tumor DNA Identifies Dynamic Evolution of Clinically Actionable Genomic Alterations in High-Risk Neuroblastoma.
Bosse KR et al.
Cancer Discovery, 2022
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
Swarts JW et al.
American Journal of Medical Genetics. Part A, 2022
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 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
Precise in vivo functional analysis of DNA variants with base editing using ACEofBASEs target prediction.
Cornean A et al.
Elife, 2022
Clinical features, genetic detection and therapeutic response to rhGH of children with Noonan syndrome: an analysis of 12 cases.
Shangguan H et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2021
Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.
Takayanagi D et al.
Cancers, 2021
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Meyer R et al.
Orphanet Journal of Rare Diseases, 2021
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.
Rosenthal SH et al.
Plos One, 2021
Assessment of Minimal Residual Disease by Next Generation Sequencing in Peripheral Blood as a Complementary Tool for Personalized Transplant Monitoring in Myeloid Neoplasms.
Aguirre-Ruiz P et al.
Journal of Clinical Medicine, 2020
Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics.
Morita K et al.
Nature Communications, 2020
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Bick AG et al.
Nature, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
Ranza E et al.
Clinical Genetics, 2020
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak C et al.
Genome Medicine, 2020
Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.
Jiang L et al.
American Journal of Cancer Research, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Winter H et al.
Cancers, 2019
Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.
Nagata Y et al.
Nature Communications, 2019
Coordinated alterations in RNA splicing and epigenetic regulation drive leukaemogenesis.
Yoshimi A et al.
Nature, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Genomic loss of HLA alleles may affect the clinical outcome in low-risk myelodysplastic syndrome patients.
Montes P et al.
Oncotarget, 2018
Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.
Tarlock K et al.
Oncotarget, 2018
Intrapatient functional clonality deconvoluted by coupling intracellular flow cytometry and next-generation sequencing in human leukemia.
Zhang Q et al.
Leukemia, 2018