Eisfeldt J

Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements

Eisfeldt J, Ameur A, Lenner F, ..., Feuk L, Lindstrand A

- - (-) - [2023-12-17; online 2023-12-17]

Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation.

Eisfeldt J, Rezayee F, Pettersson M, ..., Grigelioniene G, Lindstrand A

Hum. Mutat. 43 (11) 1567-1575 [2022-11-00; online 2022-07-23]

Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma

Peña-Pérez L, Frengen N, Hauenstein J, ..., Lindstrand A, Månsson R

- - (-) - [2021-12-09; online 2021-12-09]

Long-read whole genome analysis of human single cells

Hård J, Mold JE, Eisfeldt J, ..., Michaëlsson J, Ameur A

- - (-) - [2021-04-13; online 2021-04-13]

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia

Bieder A, Einarsdottir E, Matsson H, ..., Kere J, Tapia-Páez I

- - (-) - [2020-03-31; online 2020-03-31]

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data

Eisfeldt J, Vezzi F, Olason P, Nilsson D, Lindstrand A

F1000Res 6 (-) 664 [2017-05-10; online 2017-05-10]