Associated Papers
Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2026
Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications.
Park C et al.
Esmo Open, 2025
Neoantigen landscape supports feasibility of personalized cancer vaccine for follicular lymphoma.
Ramirez CA et al.
Blood Advances, 2024
The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders.
Fuentevilla-Álvarez G et al.
Biomolecules & Biomedicine, 2024
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 2024
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.
Lee K et al.
Scientific Reports, 2023
Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.
Kantaputra P et al.
Genes, 2022
Integrated cohort of esophageal squamous cell cancer reveals genomic features underlying clinical characteristics.
Li M et al.
Nature Communications, 2022
Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.
Ju HY et al.
Cancers, 2022
Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome.
Asano T et al.
Ophthalmic Genetics, 2021
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Scholl SM et al.
Ebiomedicine, 2020
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Telomere alterations in neurofibromatosis type 1-associated solid tumors.
Rodriguez FJ et al.
Acta Neuropathologica Communications, 2019
Contribution of allelic imbalance to colorectal cancer.
Palin K et al.
Nature Communications, 2018
Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome.
De Cario R et al.
Journal of Vascular Surgery, 2018
The landscape of somatic mutation in sporadic Chinese colorectal cancer.
Liu Z et al.
Oncotarget, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.
Berg KCG et al.
Molecular Cancer, 2017
Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer.
Mathot L et al.
Cancer Research, 2017
Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders.
Celestino-Soper PB et al.
Frontiers in Cardiovascular Medicine, 2017
Exceptional Chemotherapy Response in Metastatic Colorectal Cancer Associated With Hyper-Indel-Hypermutated Cancer Genome and Comutation of POLD1 and MLH1.
Sharma MR et al.
Jco Precision Oncology, 2017
Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.
Lu YW et al.
Plos One, 2016
Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.
Smith CG et al.
Human Mutation, 2013
Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.
Foffa I et al.
Bmc Medical Genetics, 2013
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
Frederic MY et al.
Human Mutation, 2008