Martina Owens
Royal Devon & Exeter NHS Foundation Trust(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Neuroendocrine Tumor Research Advances, Thyroid Cancer Diagnosis and Treatment, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort(2014)181 cited
- → Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins(2016)168 cited
- → Hepatocyte nuclear factor-1 gene deletions--a common cause of renal disease(2007)107 cited
- → WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features(2017)91 cited
- → Pitfalls of haplotype phasing from amplicon-based long-read sequencing(2016)85 cited
- → Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young(2007)69 cited
- → The contribution of X-linked coding variation to severe developmental disorders(2021)63 cited
- → Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1(2007)41 cited
- → Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory(2022)33 cited
- → A Comparison of Methods for EGFR Mutation Testing in Non–Small Cell Lung Cancer(2013)31 cited