Associated Papers
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.
Golan H et al.
Bmc Cancer, 2025
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
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
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
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
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
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 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
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
Performance comparison: exome sequencing as a single test replacing Sanger sequencing.
Fridman H et al.
Molecular Genetics and Genomics : Mgg, 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
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
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Jungwirth G et al.
Acta Neuropathologica Communications, 2019
Primary progressive multiple sclerosis and neurofibromatosis type 1.
Iwanowski P et al.
Multiple Sclerosis and Related Disorders, 2019
A pan-cancer analysis of synonymous mutations.
Sharma Y et al.
Nature Communications, 2019
[Identification of a novel NF1 mutation in a Chinese family affected with neurofibromatosis type I].
Zhang Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 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
Clinical characteristics and NF1 gene mutation analysis of three successive generations in three different Indian families with neurofibromatosis type 1 and peripheral nerve sheath tumours.
Prasad BCM et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 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
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
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
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1.
Cai SP et al.
Genetics and Molecular Research : Gmr, 2014
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
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
Griffiths S et al.
Familial Cancer, 2007