Associated Papers
Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.
Handoko et al.
Scientific Reports, 2025
Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large-scale rearrangement for the diagnosis of cancer predisposition.
Chevrier S et al.
Clinical and Translational Medicine, 2025
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma.
Martija AA et al.
Acta Neuropathologica Communications, 2023
Distinct Genetically Determined Origins of Myd88/BCL2-Driven Aggressive Lymphoma Rationalize Targeted Therapeutic Intervention Strategies.
Flümann R et al.
Blood Cancer Discovery, 2023
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Laabs BH et al.
Nature Communications, 2021
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
MiR-509-3 augments the synthetic lethality of PARPi by regulating HR repair in PDX model of HGSOC.
Sun C et al.
Journal of Hematology & Oncology, 2020
Characterizations of Gene Alterations in Melanoma Patients from Chinese Population.
Luo Y et al.
Biomed Research International, 2020
Tumor heterogeneity and acquired drug resistance in FGFR2-fusion-positive cholangiocarcinoma through rapid research autopsy.
Krook MA et al.
Cold Spring Harbor Molecular Case Studies, 2019
Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.
Coco S et al.
Cancers, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
Torrezan GT et al.
Frontiers in Genetics, 2018
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.
Yang X et al.
Plos One, 2015