Eisfeldt J, Ameur A, Lenner F, Ten Berk de Boer E, Ek M, Wincent J, Vaz R, Ottosson J, Jonson T, Ivarsson S, Thunström S, Topa A, Stenberg S, Rohlin A, Sandestig A, Nordling M, Palmebäck P, Burstedt M, Nordin F, Stattin EL, Sobol M, Baliakas P, Bondeson ML, Höijer I, Saether KB, Lovmar L, Ehrencrona H, Melin M, *Feuk L, *Lindstrand A. A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities. Genome Research 34:1774-1784. 2024.
Eisfeldt J, Higginbotham EJ, Lenner F, Howe J, Fernandez BA, Lindstrand A, Scherer SW, Feuk L. Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing. Genome Research 34:1763-1773. 2024.
Höijer I, Emmanouilidou A, Östlund R, van Schendel R, Bozorgpana S, Tijsterman M, Feuk L, Gyllensten U, den Hoed M, Ameur A. CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations. Nature Communications 13:627. 2022.
Thuresson AC, Soussi Zander C, Zhao JJ, Halvardson J, Khurram Maqbool K, Månsson E, Stenninger E, Holmlund U, Öhrner Y, Feuk L. Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability. Clinical Genetics. 95:436-439. 2019.
Ameur A, Zaghlool A, Halvardson J, Wetterbom A, Gyllensten U, Cavelier L#, Feuk L#. Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain. Nature Structural and Molecular Biology 18, 1435-40. 2011.
Pinto D, Darvishi K, Shi X, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, MacDonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, Smith RS, Park JH, Hurles ME, Carter NP, Lee C, Scherer SW, Feuk L. A comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nature Biotechnology 29,512–520. 2011.
