J. Hum. Genet.

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

Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease.

Crawford AA, Bankier S, Altmaier E, ..., Walker BR, CORtisol NETwork (CORNET) consortium

J. Hum. Genet. 66 (6) 625-636 [2021-06-00; online 2021-01-20]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Polymorphisms in DCDC2 and S100B associate with developmental dyslexia.

Matsson H, Huss M, Persson H, ..., Peyrard-Janvid M, Kere J

J. Hum. Genet. 60 (7) 399-401 [2015-07-00; online 2015-04-17]

Mutation Analysis Facility (MAF) NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

Linkage to 20p13 including the ANGPT4 gene in families with mixed Alzheimer's disease and vascular dementia.

Sillén A, Brohede J, Lilius L, ..., Winblad B, Graff C

J. Hum. Genet. 55 (10) 649-655 [2010-10-00; online 2010-07-03]

Mutation Analysis Facility (MAF)