Shazia Mahamdallie
Publications by Year
Research Areas
Cancer Genomics and Diagnostics, Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Genomic variations and chromosomal abnormalities, BRCA gene mutations in cancer
Most-Cited Works
- → Resolving the full spectrum of human genome variation using Linked-Reads(2019)306 cited
- → Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients(2016)219 cited
- → Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability(2017)209 cited
- → Protistan community analysis: key findings of a large-scale molecular sampling(2016)168 cited
- → Identification of new Wilms tumour predisposition genes: an exome sequencing study(2019)143 cited
- → Evaluation of Cancer-Based Criteria for Use in MainstreamBRCA1andBRCA2Genetic Testing in Patients With Breast Cancer(2019)114 cited
- → The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants(2018)110 cited
- → Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN(2016)108 cited
- → Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour(2014)98 cited
- → CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting(2015)91 cited