Associated Papers
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
De novo detection of somatic variants in high-quality long-read single-cell RNA sequencing data.
Dondi A et al.
Genome Research, 2025
Detection of ESR1 Mutations in Tissue and Liquid Biopsy with Novel Next-Generation Sequencing and Digital Droplet PCR Assays: Insights from Multi-Center Real Life Data of Almost 6000 Patients.
Borkar S et al.
Cancers, 2025
Case Report: Metastatic small bowel adenocarcinoma with DNA mismatch repair deficiency in an organ transplant recipient treated with anti-PD-1 immunotherapy.
Phung QH et al.
Frontiers in Oncology, 2025
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
De novo detection of somatic variants in high-quality long-read single-cell RNA sequencing data.
Dondi A et al.
Biorxiv : the Preprint Server for Biology, 2024
RNA fine-tunes estrogen receptor-alpha binding on low-affinity DNA motifs for transcriptional regulation.
Soota D et al.
The Embo Journal, 2024
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
Exploring pathogenic SNPs and estrogen receptor alpha interactions in breast cancer: An in silico approach.
Alamri AM et al.
Heliyon, 2024
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 2024
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
Human-genome single nucleotide polymorphisms affecting transcription factor binding and their role in pathogenesis.
Antontseva EV et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
A Rare Case of Penoscrotal Webbing and Extensive Hernias: An Anatomical Report With Genetic Insights.
Olson CM et al.
Cureus, 2023
Transcription factors interact with RNA to regulate genes.
Oksuz O et al.
Molecular Cell, 2023
Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and autistic traits.
More RP et al.
Molecular Psychiatry, 2023
Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity.
Bonetti G et al.
Journal of Clinical Medicine, 2022
Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.
Lieb V et al.
Cells, 2022
A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa.
Ceccarini MR et al.
Eating and Weight Disorders : Ewd, 2022
Natural History and Characteristics of ERBB2-mutated Hormone Receptor-positive Metastatic Breast Cancer: A Multi-institutional Retrospective Case-control Study from AACR Project GENIE.
LeNoue-Newton ML et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.
Lieb V et al.
Cells, 2021
Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.
Shin G et al.
Genome Medicine, 2021
Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).
Gong Y et al.
International Journal of Molecular Sciences, 2021
Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.
He C et al.
Nature Communications, 2021
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
R269C variant of ESR1: high prevalence and differential function in a subset of pancreatic cancers.
Boldes T et al.
Bmc Cancer, 2020
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
Winn JS et al.
International Journal of Molecular Sciences, 2020
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.
Clark TA et al.
The Journal of Molecular Diagnostics : Jmd, 2018
Sequence variants in ESR1 and OXTR are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Brucker SY et al.
Acta Obstetricia Et Gynecologica Scandinavica, 2017
In silico characterization of functional SNP within the oestrogen receptor gene.
Rebaï M et al.
Journal of Genetics, 2016