npj Genom. Med.

CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma.

Saba KH, Difilippo V, Styring E, ..., Baumhoer D, Nord KH

npj Genom. Med. 9 (1) 42 [2024-09-25; online 2024-09-25]

NGI Long read [Service] 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]

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.

Zhao S, Zhang Y, Hallgrimsdottir S, ..., Grigelioniene G, Wu N

npj Genom. Med. 7 (1) 11 [2022-02-15; online 2022-02-15]

Clinical Genomics Stockholm [Service]

The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder.

Li D, Choque-Olsson N, Jiao H, ..., Bölte S, Tammimies K

npj Genom. Med. 5 (1) 45 [2020-10-12; online 2020-10-12]

Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative]