Nilsson D

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]

PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.

Rasi C, Nilsson D, Magnusson M, ..., Wirta V, Stranneheim H

Hum. Mutat. 43 (6) 708-716 [2022-06-00; online 2022-03-07]

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]

Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia.

Ivanov Öfverholm I, Zachariadis V, Taylan F, ..., Nordlund J, Barbany G

Leuk. Lymphoma 61 (3) 604-613 [2020-03-00; online 2019-10-22]

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.

Eisfeldt J, Pettersson M, Vezzi F, ..., Carvalho CMB, Lindstrand A

PLoS Genet 15 (2) e1007858 [2019-02-00; online 2019-02-08]

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]

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]