Gudmundsson S

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 M

Eur. J. Hum. Genet. - (-) - [2023-06-05; 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 [Collaborative]

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]

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.

Stattin EL, Johansson J, Gudmundsson S, ..., Bondeson ML, Wilbe M

Am. J. Med. Genet. A 176 (6) 1405-1410 [2018-06-00; online 2018-04-16]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

Wilbe M, Gudmundsson S, Johansson J, ..., Frykholm C, Bondeson ML

Prenat. Diagn. 37 (11) 1146-1154 [2017-11-00; online 2017-10-17]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]