Josephine Wincent

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 · 253 citations · Full text

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 · 139 citations · Full text

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations

Patricia Fergelot, Martine van Belzen, Julien Van‐Gils et al. · American Journal of Medical Genetics Part A · 2016 · 122 citations

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

Yvonne Schulz, Peter Wehner, Lennart Opitz et al. · Human Genetics · 2014 · 121 citations

Cell Lineage, Molecular Neuroscience, Developmental Biology +8

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

Daniel Nilsson, Maria Pettersson, Peter Gustavsson et al. · Human Mutation · 2016 · 78 citations · Full text

Cytogenetics, Genetics, Genomic Mechanism +16