Publications
Download CSV
Download XLSX
Download TXT
Tables
2024 (853)
2023 (887)
2022 (831)
2021 (892)
2020 (640)
2019 (727)
2018 (651)
2017 (681)
2016 (664)
2015 (429)
2014 (376)
2013 (319)
2012 (245)
2011 (163)
2010 (139)
2000 (2)
1977 (2)
All (8501)
Infrastructure Units
Infrastructure Units list
Infrastructure Units table
Researchers
Subset
Documentation
About
Contact
Software
Login
Johansson J
JSON
CSV
XLSX
TXT
Family name
Johansson
Given name
Josefin
Initials
J
ORCID
ORCID
0000-0002-5152-4096
Affiliations
Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, 751 08, Sweden.
3 publications
PubMed
DOI
Crossref
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Johansson J
, Lidéus S, Frykholm C, ..., Wilbe M,
Bondeson ML
Eur. J. Hum. Genet.
32
(3) 333-341 [2024-03-00; online 2023-06-05]
Bioinformatics Support for Computational Resources [Service]
Clinical Genomics Stockholm [Service]
NGI Short read [Service]
NGI Uppsala (SNP&SEQ Technology Platform) [Service]
NGI Uppsala (Uppsala Genome Center) [Collaborative]
National Genomics Infrastructure [Service]
PubMed
DOI
Crossref
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
Johansson J
, Frykholm C, Ericson K, ..., Bondeson ML,
Wilbe M
Am. J. Med. Genet. A
188
(6) 1676-1687 [2022-06-00; online 2022-02-15]
Bioinformatics Support for Computational Resources [Service]
Clinical Genomics Uppsala [Service]
NGI Uppsala (Uppsala Genome Center) [Collaborative]
National Genomics Infrastructure [Collaborative]
PubMed
DOI
Crossref
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.
Gudmundsson S
, Wilbe M,
Filipek-Górniok B
, ..., Annerén G, Bondeson M
Sci Rep
9
(1) 10730 [2019-07-24; online 2019-07-24]
BioImage Informatics [Collaborative]
Bioinformatics Support and Infrastructure [Service]
Bioinformatics Support for Computational Resources [Service]
Bioinformatics Support, Infrastructure and Training [Service]
Clinical Genomics Uppsala [Collaborative]
Genome Engineering Zebrafish [Collaborative]
NGI Uppsala (SNP&SEQ Technology Platform) [Service]
National Genomics Infrastructure [Service]
SciLifeLab Data Centre
Publications
9.5.1