Associated Papers
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
Germline variants in patients diagnosed with pediatric soft tissue sarcoma.
Yndestad S et al.
Acta Oncologica (stockholm, Sweden), 2024
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
Sequence-structure functional implications and molecular simulation of high deleterious nonsynonymous substitutions in IDH1 revealed the mechanism of drug resistance in glioma.
Suleman M et al.
Frontiers in Pharmacology, 2022
FGFR Inhibition Overcomes Resistance to EGFR-targeted Therapy in Epithelial-like Cutaneous Carcinoma.
Bernat-Peguera A et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.
Arindrarto W et al.
Leukemia, 2021
Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.
Lu S et al.
Theranostics, 2021
A Novel Mutation of the KLK6 Gene in a Family With Knee Osteoarthritis.
Ge Y et al.
Frontiers in Genetics, 2021
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Brown AL et al.
Blood Advances, 2020
Targeted Mutational Profiling and a Powerful Risk Score as Additional Tools for the Diagnosis of Papillary Thyroid Cancer.
Kocsis-Deák B et al.
Pathology Oncology Research : Por, 2020
Mapping actionable pathways and mutations in brain tumours using targeted RNA next generation sequencing.
Lenting K et al.
Acta Neuropathologica Communications, 2019
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.
Ticha I et al.
Scientific Reports, 2019
Clinical and genetic analysis of melanomas arising in acral sites.
Zaremba A et al.
European Journal of Cancer (oxford, England : 1990), 2019
Somatic genetic alterations in a large cohort of pediatric thyroid nodules.
Pekova B et al.
Endocrine Connections, 2019
Isocitrate dehydrogenase 1-mutated human gliomas depend on lactate and glutamate to alleviate metabolic stress.
Lenting K et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.
Dehghani M et al.
Frontiers in Molecular Biosciences, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Exome analysis of carotid body tumor.
Snezhkina AV et al.
Bmc Medical Genomics, 2018
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 2018
BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.
Kemper K et al.
Cell Reports, 2016
Characterization of DNA variants in the human kinome in breast cancer.
Agarwal D et al.
Scientific Reports, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.
Abedalthagafi MS et al.
Oncotarget, 2014
Identification of Hedgehog pathway responsive glioblastomas by isocitrate dehydrogenase mutation.
Gerardo Valadez J et al.
Cancer Letters, 2013
Mutation analysis of candidate genes within the 2q33.3 linkage area for familial early-onset generalised osteoarthritis.
Min JL et al.
European Journal of Human Genetics : Ejhg, 2007