Eisfeldt J

Family name	Eisfeldt
Given name	Jesper
Initials	J
ORCID	ORCID 0000-0003-3716-4917
Affiliations	Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Sweden. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden.

16 publications

PubMed DOI Crossref

Detecting transposable elements in long-read genomes using sTELLeR.

Bilgrav Saether K, Eisfeldt J

Bioinformatics 40 (11) - [2024-11-01; online 2024-11-19]

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]

PubMed DOI Crossref

Transposable element insertions in 1000 Swedish individuals.

Bilgrav Saether K, Nilsson D, Thonberg H, ..., Eisfeldt J, Lindstrand A

PLoS ONE 18 (7) e0289346 [2023-07-28; online 2023-07-28]

PubMed DOI Crossref

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]

PubMed DOI Crossref

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier.

Eisfeldt J, Pettersson M, Petri A, ..., Feuk L, Lindstrand A

Hum. Genet. 140 (5) 775-790 [2021-05-00; online 2020-12-14]

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]

PubMed DOI Crossref

Cytogenetically visible inversions are formed by multiple molecular mechanisms.

Pettersson M, Grochowski CM, Wincent J, ..., Carvalho CMB, Lindstrand A

Hum. Mutat. 41 (11) 1979-1998 [2020-11-00; online 2020-10-01]

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]

Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants

Garcia M, Juhos S, Larsson M, ..., Käller M, Nystedt B

F1000Res 9 (-) 63 [2020-01-29; online 2020-01-29]

PubMed DOI Crossref

Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants.

Garcia M, Juhos S, Larsson M, ..., Käller M, Nystedt B

F1000Res 9 (-) 63 [2020-01-29; online 2020-01-29]

PubMed DOI Crossref

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Nazaryan-Petersen L, Eisfeldt J, Pettersson M, ..., Tümer Z, Lindstrand A

PLoS Genet 14 (11) e1007780 [2018-11-00; online 2018-11-12]

PubMed DOI Crossref

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Pettersson M, Vaz R, Hammarsjö A, ..., Grigelioniene G, Lindstrand A

Hum. Mutat. 39 (10) 1456-1467 [2018-10-00; online 2018-08-22]

PubMed DOI Crossref

AMYCNE: Confident copy number assessment using whole genome sequencing data.

Eisfeldt J, Nilsson D, Andersson-Assarsson JC, Lindstrand A

PLoS ONE 13 (3) e0189710 [2018-03-26; online 2018-03-26]

PubMed DOI Crossref

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]

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]

SciLifeLab Data Centre

Publications 9.5.1