Associated Papers
Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas.
Li H et al.
Plos One, 2026
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.
Aertgeerts M et al.
Hemasphere, 2025
Patient-derived colorectal microtumors predict response to anti-PD-1 therapy.
Nguyen DT et al.
Frontiers in Immunology, 2025
A Comprehensive Overview of NF1 Mutations in Iranian Patients.
Savad S et al.
Neuromolecular Medicine, 2024
snRNA-seq of human cutaneous neurofibromas before and after selumetinib treatment implicates role of altered Schwann cell states, inter-cellular signaling, and extracellular matrix in treatment response.
Church C et al.
Acta Neuropathologica Communications, 2024
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.
Leier A et al.
Molecular Therapy. Nucleic Acids, 2022
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021
Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.
Zhang Y et al.
Cell Reports, 2021
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.
Koster R et al.
Npj Genomic Medicine, 2021
Application of Cluster Analysis of Time Evolution for Magnetic Resonance Imaging -Derived Oxygen Extraction Fraction Mapping: A Promising Strategy for the Genetic Profile Prediction and Grading of Glioma.
Shen N et al.
Frontiers in Neuroscience, 2021
A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.
Banerjee S et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2016
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S et al.
Nature, 2016
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
Kluwe L et al.
Human Mutation, 2002
A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.
Johnson D et al.
American Journal of Human Genetics, 1998