Maria Soller

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Stig E. Bojesen, Karen A. Pooley, Sharon E. Johnatty et al. · Nature Genetics · 2013 · 540 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

Wybo Dondorp, Guido de Wert, Yvonne Bombard et al. · European Journal of Human Genetics · 2015 · 354 citations · Full text

Medicine, Genetics, Obstetrics +17

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 271 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson et al. · Genome Medicine · 2019 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce Turner et al. · Human Mutation · 2010 · 129 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12