Ewa Goljan
Royal Devon & Exeter NHS Foundation Trust(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Neurological disorders and treatments, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Hereditary Neurological Disorders
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population(2019)279 cited
- → Autozygome and high throughput confirmation of disease genes candidacy(2018)116 cited
- → Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families(2017)98 cited
- → Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation(2017)85 cited
- → Genetic Alterations in Pediatric Thyroid Cancer Using a Comprehensive Childhood Cancer Gene Panel(2020)51 cited
- → Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking(2021)50 cited
- → Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease(2019)48 cited
- → Genetic profiling of children with advanced cholestatic liver disease(2016)45 cited