Maria Soller
Karolinska University Hospital(SE)Karolinska Institutet(SE)University of Gothenburg(SE)
Publications by Year
Research Areas
Genomics and Rare Diseases, BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics
Most-Cited Works
- → Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening(2015)350 cited
- → Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients(2021)259 cited
- → Confirmation of the high frequency of the TMPRSS2/ERG fusion gene in prostate cancer(2006)193 cited
- → From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability(2019)141 cited
- → Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations(2010)128 cited
- → Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU(2017)