Associated Papers
A comprehensive benchmark for multiple highly efficient base editors with broad targeting scope.
Wang X et al.
Biorxiv : the Preprint Server for Biology, 2025
Pharmacoproteogenomic approach identifies on-target kinase inhibitors for cancer drug repositioning.
Noguchi R et al.
In Vitro Cellular & Developmental Biology. Animal, 2024
Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.
Fu K et al.
Scientific Reports, 2024
Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors.
Nishida T et al.
Cancer Science, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
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
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
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 2021
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5.
Nozawa A et al.
International Journal of Hematology, 2020
Frequent MN1 Gene Mutations in Malignant Peripheral Nerve Sheath Tumor.
Kinoshita I et al.
Anticancer Research, 2020
In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.
Accetturo M et al.
International Journal of Molecular Sciences, 2020
Characterizations of Gene Alterations in Melanoma Patients from Chinese Population.
Luo Y et al.
Biomed Research International, 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
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Lee JW et al.
Plos One, 2019
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
Wu-Chou YH et al.
Journal of Biomedical Science, 2018
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
Tracking the origin of simultaneous endometrial and ovarian cancer by next-generation sequencing - a case report.
Valtcheva N et al.
Bmc Cancer, 2017
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
Evans DG et al.
Ebiomedicine, 2016
Melanoma arising in a nevus of Ito: novel genetic mutations and a review of the literature on cutaneous malignant transformation of dermal melanocytosis.
Tse JY et al.
Journal of Cutaneous Pathology, 2016
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Xu W et al.
International Journal of Molecular Medicine, 2014
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
Ko JM et al.
Pediatric Neurology, 2013