Esmee Frederique ten Berk de Boer

Articles

Article: GENOME MEDICINE. 2026;18(1):12
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders
Ek M; Kvarnung M; Ten Berk de Boer E; La Fleur L; Ljostad L; Lyander A; Faergeman SL; Drue SO; Thonberg H; Nordgren A; Soller MJ; Wirta V; Eisfeldt J; Lindstrand A
Article: GENOME RESEARCH. 2024;34(11):1774-1784
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
Eisfeldt J; Ameur A; Lenner F; Ten Berk de Boer E; Ek M; Wincent J; Vaz R; Ottosson J; Jonson T; Ivarsson S; Thunstroem S; Topa A; Stenberg S; Rohlin A; Sandestig A; Nordling M; Palmeback P; Burstedt M; Nordin F; Stattin E-L; Sobol M; Baliakas P; Bondeson M-L; Hoijer I; Saether KB; Lovmar L; Ehrencrona H; Melin M; Feuk L; Lindstrand A
Article: SCIENTIFIC REPORTS. 2024;14(1):9000
Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
ten Berk de Boer E; Ameur A; Bunikis I; Ek M; Stattin E-L; Feuk L; Eisfeldt J; Lindstrand A
Article: FRONTIERS IN GENETICS. 2023;14:1176626
Discovery of non-reference processed pseudogenes in the Swedish population
de Boer ETB; Saether KB; Eisfeldt J

Review: GENOME MEDICINE. 2025;17(1):124
Recommendations for bioinformatics in clinical practice
Lavrichenko K; Engdal ES; Marvig RL; Jemt A; Vignes JM; Almusa H; Saether KB; Briem E; Caceres E; Elvarsdottir EM; Gislason MH; Haanpaa MK; Henmyr V; Hotakainen R; Kaasinen E; Kanninga R; Khan S; Lie-Nielsen MG; Madsen MB; Mahler N; Maqbool K; Neethiraj R; Nyren K; Paavola M; Pruisscher P; Sheng Y; Singh AK; Srivastava A; Stautland TK; Andreasen DT; de Boer ETB; Vang S; Wirta V; Bagger FO