Associated Papers
Tumor-normal sequencing reveals novel TP53 germline and clinically actionable somatic mutations in Nigerian breast cancer patients.
Onyia AF et al.
Cancer Genetics, 2026
The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.
Kazan HH et al.
Cureus, 2025
Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer.
Mazouji O et al.
Scientific Reports, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Identification of novel germline and somatic mutations associated with hepatocellular carcinoma by next-generation sequencing.
Laaribi AB et al.
Frontiers in Pharmacology, 2025
Next-Generation DNA Sequencing of Grade 1 Meningioma Tumours: A Case Report of Angiomatous and Psammomatous Meningiomas.
Taher MM et al.
Cureus, 2024
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing.
Taher MM et al.
Cureus, 2023
SB202190 Predicts BRAF-Activating Mutations in Primary Colorectal Cancer Organoids via Erk1-2 Modulation.
Costa D et al.
Cells, 2023
Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.
Sohn SH et al.
Cancers, 2022
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
Cerebellar liponeurocytoma: clinical, histopathological and molecular features of a series of three cases, including one recurrent tumor.
Broggi G et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2022
The Molecular Subtype of Adult Acute Lymphoblastic Leukemia Samples Determines the Engraftment Site and Proliferation Kinetics in Patient-Derived Xenograft Models.
Richter A et al.
Cells, 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
Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.
Yang PS 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
Machine learning random forest for predicting oncosomatic variant NGS analysis.
Pellegrino E et al.
Scientific Reports, 2021
Mutation Profiling of Intracranial Myxopapillary Ependymoma by Next Generation DNA Sequencing.
Taher MM et al.
The Gulf Journal of Oncology, 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
Identification of PKHD1 mutations in Brain, Breast and Rectal tumors by Next Generation DNA Sequencing.
Mohammed Almehmadi D et al.
The Gulf Journal of Oncology, 2021
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis.
Jastania RA et al.
International Medical Case Reports Journal, 2020
Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study.
Spence T et al.
Current Oncology (toronto, Ont.), 2019
Next generation DNA sequencing of atypical choroid plexus papilloma of brain: Identification of novel mutations in a female patient by Ion Proton.
Taher MM et al.
Oncology Letters, 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
Transient Disappearance of RAS Mutant Clones in Plasma: A Counterintuitive Clinical Use of EGFR Inhibitors in RAS Mutant Metastatic Colorectal Cancer.
Raimondi C et al.
Cancers, 2019
Mutation profiling of anaplastic ependymoma grade III by Ion Proton next generation DNA sequencing.
Butt E et al.
F1000research, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Combining genomic analyses with tumour-derived slice cultures for the characterization of an EGFR-activating kinase mutation in a case of glioblastoma.
Loriguet L et al.
Bmc Cancer, 2018
Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.
Williams HL et al.
Virchows Archiv : an International Journal of Pathology, 2018
Transcriptomic analysis and mutational status of IDH1 in paired primary-recurrent intrahepatic cholangiocarcinoma.
Peraldo-Neia C et al.
Bmc Genomics, 2018
The reliable assurance of detecting somatic mutations in cancer-related genes by next-generation sequencing: the results of external quality assessment in China.
Zhang R et al.
Oncotarget, 2016
Basaloid carcinoma of the pancreas--clinicopathological presentation and oncogenetic snapshot of a rare entity.
Szasz AM et al.
Virchows Archiv : an International Journal of Pathology, 2015
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ et al.
Plos Genetics, 2015