Associated Papers
Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?
van Deventer BS et al.
Forensic Science, Medicine, and Pathology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genetic variants in patients with multiple arterial aneurysms.
Körfer D et al.
Langenbeck's Archives of Surgery, 2024
Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants.
Martin-Lagos J et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2024
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.
Denisova E et al.
Cancer Gene Therapy, 2022
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.
Simpson CL et al.
Bmc Medical Genetics, 2019
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
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes.
Mank-Seymour AR et al.
American Heart Journal, 2006