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
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
ADAR1 polymorphisms contribute to increased susceptibility in pediatric acute lymphoblastic leukemia.
Cai M et al.
Annals of Hematology, 2023
ADAR Expression and Single Nucleotide Variants in Multiple Sclerosis Patients Affect the Response to Interferon Beta Therapy.
Fakhr F et al.
Global Medical Genetics, 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Individualized Proteogenomics Reveals the Mutational Landscape of Melanoma Patients in Response to Immunotherapy.
Schmitt M et al.
Cancers, 2021
A pan-cancer atlas of somatic mutations in miRNA biogenesis genes.
Galka-Marciniak P et al.
Nucleic Acids Research, 2021
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Large Scale Identification of Variant Proteins in Glioma Stem Cells.
Mostovenko E et al.
Acs Chemical Neuroscience, 2018
Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing.
Liu JW et al.
Chinese Medical Journal, 2016
Single nucleotide polymorphisms/haplotypes associated with multiple rubella-specific immune response outcomes post-MMR immunization in healthy children.
Ovsyannikova IG et al.
Immunogenetics, 2015
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
Genetic polymorphisms in host antiviral genes: associations with humoral and cellular immunity to measles vaccine.
Haralambieva IH et al.
Vaccine, 2011
Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish cohort.
Fernández-Rozadilla C et al.
Plos One, 2010
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene.
Murata I et al.
Journal of Dermatological Science, 2010
Variants in interferon-alpha pathway genes and response to pegylated interferon-Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long-term treatment against cirrhosis trial.
Welzel TM et al.
Hepatology (baltimore, Md.), 2009
Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria.
Murata I et al.
Journal of Dermatological Science, 2009
Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis.
Suzuki N et al.
The Journal of Investigative Dermatology, 2005