Associated Papers
An Autopsy Case of Neurofibromatosis Type 1 Mutation Detected in a Duodenal Lesion of Malignant Melanoma: A Case Report.
Seki M et al.
Cureus, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 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
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition.
Huang YT et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2024
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.
Perani A et al.
Frontiers in Oncology, 2023
Case report: Gene mutation analysis and skin imaging of isolated café-au-lait macules.
Zhong Z et al.
Frontiers in Genetics, 2023
Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.
Meyers S et al.
Hemasphere, 2022
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.
Qian H et al.
Frontiers in Genetics, 2022
Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.
Yang PS et al.
Frontiers in Oncology, 2022
Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.
Chen D et al.
Frontiers in Oncology, 2022
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.
Koster R et al.
Npj Genomic Medicine, 2021
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 2021
Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study.
Togi S et al.
Current Issues in Molecular Biology, 2021
Metalloproteinase 1 downregulation in neurofibromatosis 1: Therapeutic potential of antimalarial hydroxychloroquine and chloroquine.
Tsuji G et al.
Cell Death & Disease, 2021
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.
Yoshizawa T et al.
Npj Precision Oncology, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Temozolomide Is a Potential Therapeutic Tool for Patients With Metastatic Pheochromocytoma/Paraganglioma-Case Report and Review of the Literature.
Tong A et al.
Frontiers in Endocrinology, 2020
Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1.
Chai P et al.
Bmc Medical Genetics, 2019
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
Suarez-Kelly LP et al.
Cold Spring Harbor Molecular Case Studies, 2018
Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.
Smetana J et al.
Molecular Cytogenetics, 2018
Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing.
DU ZF et al.
Journal of Biosciences, 2017
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Castellanos E et al.
Scientific Reports, 2017
A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.
Rafati M et al.
European Journal of Medical Genetics, 2016
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.
Sun Y et al.
The Canadian Journal of Cardiology, 2015
Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1.
Okumura A et al.
Brain & Development, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Fast and robust next-generation sequencing technique using ion torrent personal genome machine for the screening of neurofibromatosis type 1 (NF1) gene.
Balla B et al.
Journal of Molecular Neuroscience : Mn, 2014