Batkovskyte D

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.

Batkovskyte D, Swolin-Eide D, Hammarsjö A, ..., Åström E, Grigelioniene G

Am. J. Med. Genet. A - (-) e63935 [2024-11-08; online 2024-11-08]

Clinical Genomics Stockholm [Service]

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Delgado-Vega AM, Cederroth H, Taylan F, ..., Cederroth M, Nordgren A

Nat. Genet. 56 (11) 2287-2294 [2024-11-00; online 2024-10-22]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Gothenburg [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Uppsala [Collaborative] NGI Long read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.

Jacob P, Lindelöf H, Rustad CF, ..., Girisha KM, Grigelioniene G

npj Genom. Med. 8 (1) 39 [2023-11-22; online 2023-11-22]

Clinical Genomics Stockholm [Service]