Genet Med

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.

Lindstrand A, Ek M, Kvarnung M, ..., Pettersson M, Nordgren A

Genet Med 24 (11) 2296-2307 [2022-11-00; online 2022-09-06]

Clinical Genomics Stockholm [Service]

Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma.

Yang M, Johnsson P, Bräutigam L, ..., Cao Y, Höiom V

Genet Med 24 (1) 157-169 [2022-01-00; online 2021-11-30]

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