Josephine Wincent
Karolinska University Hospital(SE)Karolinska Institutet(SE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Chromosomal and Genetic Variations, Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics
Most-Cited Works
- → Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients(2021)258 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
- → Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations(2016)122 cited
- → CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance(2014)121 cited
- → Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation(2016)79 cited
- → CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome(2008)66 cited