Associated Papers
Strategies for identifying NUP98 rearrangements in adult myeloid neoplasms.
Yuen LD et al.
Haematologica, 2026
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.
Hirabayashi S et al.
American Journal of Hematology, 2026
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
Demir K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.
Morote-Faubel M et al.
Human Genomics, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Yield of RASopathy Gene Panel in Karyotype-Normal or Microarray-Normal Fetuses With Increased Nuchal Translucency: A Systematic Review and Meta-Analysis.
Powel JE et al.
O&g Open, 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
Skeletal overgrowth in a pre-pubescent child treated with pan-FGFR inhibitor.
Majlessipour F et al.
Heliyon, 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
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.
McCarter JGW et al.
Blood Advances, 2023
Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis.
Hu P et al.
American Journal of Obstetrics and Gynecology, 2023
SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.
Pitts HA et al.
International Journal of Molecular Sciences, 2023
The Clinical Landscape of NRAS- mutated Juvenile Myelomonocytic Leukemia-like Myeloproliferation Includes Children With Costello Syndrome.
Pabari R et al.
Journal of Pediatric Hematology/oncology, 2023
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.
Eboreime J et al.
Human Mutation, 2022
Somatic mutations of activating signalling, transcription factor, and tumour suppressor are a precondition for leukaemia transformation in myelodysplastic syndromes.
Xu F et al.
Journal of Cellular and Molecular Medicine, 2022
Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.
Jahn N et al.
Leukemia, 2022
Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.
Gutierrez-Rodrigues F et al.
Haematologica, 2022
NPM1 exon 5 mutations in acute myeloid leukemia: Implications in diagnosis and minimal residual monitoring.
Wang P et al.
Ejhaem, 2022
Distinct Patterns of Clonal Evolution Drive Myelodysplastic Syndrome Progression to Secondary Acute Myeloid Leukemia.
Guess T et al.
Blood Cancer Discovery, 2022
PTPN11 mutations in adult acute myeloid leukaemia: Prevalence and clinical implications in the context of NPM1 mutation.
Liu J et al.
Leukemia Research, 2022
The longitudinal dynamics and natural history of clonal haematopoiesis.
Fabre MA et al.
Nature, 2022
Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.
Lamouroux A et al.
Prenatal Diagnosis, 2022
Dynamic change of variant allele frequency reveals disease status, clonal evolution and survival in pediatric relapsed B-cell acute lymphoblastic leukaemia.
Wu S et al.
Clinical and Translational Medicine, 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
Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2.
Solman M et al.
Frontiers in Cell and Developmental Biology, 2022
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions.
Bobone S et al.
Journal of Medicinal Chemistry, 2021
In vivo inducible reverse genetics in patients' tumors to identify individual therapeutic targets.
Carlet M et al.
Nature Communications, 2021
Enhancer recruitment of transcription repressors RUNX1 and TLE3 by mis-expressed FOXC1 blocks differentiation in acute myeloid leukemia.
Simeoni F et al.
Cell Reports, 2021
Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics.
Morita K et al.
Nature Communications, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Juvenile myelomonocytic leukemia: who's the driver at the wheel?
Niemeyer CM et al.
Blood, 2019
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.
Leach NT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Novel genomic findings in multiple myeloma identified through routine diagnostic sequencing.
Ryland GL et al.
Journal of Clinical Pathology, 2018
Implications of mutational spectrum in myelodysplastic syndromes based on targeted next-generation sequencing.
Xu Y et al.
Oncotarget, 2017