Grigelioniene G

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Batkovskyte D, McKenzie F, Taylan F, ..., Nishimura G, Grigelioniene G

J. Bone Miner. Res. 38 (5) 692-706 [2023-05-00; online 2023-03-27]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Service]

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Hammarsjö A, Pettersson M, Chitayat D, ..., Lindstrand A, Grigelioniene G

J. Hum. Genet. 66 (10) 995-1008 [2021-10-00; online 2021-04-20]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Tham E, Eklund EA, Hammarsjö A, ..., Nishimura G, Grigelioniene G

Eur J Hum Genet 24 (2) 198-207 [2016-02-00; online 2015-05-13]

Clinical Genomics Stockholm