Krause, A.
University of the Witwatersrand
South Africa
About
No AI summary yet.
Metrics
- Publications
- 209
- Citations
- 4.2K
- h-index
- 33
- Publishing journals
- 98
- Years of publications
- 20+
- Active since
- 2007
- References
- 4.9K
- Institutions
- 25
Publication history
Latest publications
- Hereditary ovarian cancer in women with African ancestry: a scoping review
- Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System
- Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders – the DDD-Africa study
- Comparative analysis of neurofilament light chain in Huntington's disease like 2 and Huntington's disease
- STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
- Huntington disease-like 2: insight into neurodegeneration from an African disease
- Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype
- Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype
- The First Case of Huntington’s Disease like 2 in Mali, West Africa
- Atypical Presentations of Huntington Disease‐like 2 in South African Individuals
- Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01644-5)
- Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility
- A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments
- Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility
- Retrospective file review shows limited genetic services fails most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constraint settings
- Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review
- The genetic basis for adult-onset idiopathic dilated cardiomyopathy in people of African descent
- Clinical characteristics and one-year all-cause mortality outcomes in Africans with dilated cardiomyopathy
- The implementation and utility of clinical exome sequencing in a South African infant cohort
- A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry
No publications in the index yet.