Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.
Hadjipanteli A et al.
Genes, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.
Magistri M et al.
Cancer Research Communications, 2021
Proteogenomic Analysis Unveils the HLA Class I-Presented Immunopeptidome in Melanoma and EGFR-Mutant Lung Adenocarcinoma.
Qi YA et al.
Molecular & Cellular Proteomics : Mcp, 2021
Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients.
Ke L et al.
Frontiers in Molecular Biosciences, 2021
Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs.
Seifert M et al.
Cancers, 2020
Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.
Wieben ED et al.
Investigative Ophthalmology & Visual Science, 2019
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
Loss of human ICOSL results in combined immunodeficiency.
Roussel L et al.
The Journal of Experimental Medicine, 2018
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
Circulating Tumour DNA Analysis for Tumour Genome Characterisation and Monitoring Disease Burden in Extramedullary Multiple Myeloma.
Mithraprabhu S et al.
International Journal of Molecular Sciences, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.
Vecchio-Pagán B et al.
Human Genome Variation, 2016
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2015
Very Long-term Survival Following Resection for Pancreatic Cancer Is Not Explained by Commonly Mutated Genes: Results of Whole-Exome Sequencing Analysis.
Dal Molin M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015
Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants.
Sachdeva K et al.
Genetic Testing and Molecular Biomarkers, 2011
Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.
Wei X et al.
Plos One, 2011