Anna Lindstrand
Karolinska Institutet
Key Publications
Eisfeldt J, Ek M, Nordenskjöld M, Lindstrand A. Toward clinical long-read genome sequencing for rare diseases. Nature genetics 2025 57;6 1334-1343. doi: 10.1038/s41588-025-02160-y
https://www.nature.com/articles/s41588-025-02160-y
Lindstrand A, Ek M, Kvarnung M, et al. Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability. Genet Med. Nov 2022;24(11):2296-2307. doi:10.1016/j.gim.2022.07.022
https://www.sciencedirect.com/science/article/pii/S1098360022008747?via%3Dihub
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, … Lindstrand A*, Wedell A*.. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome Med. Mar 17 2021;13(1):40. doi:10.1186/s13073-021-00855-5. * Shared senior author
https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-021-00855-5