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]

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]

DLG4-related synaptopathy: a new rare brain disorder.

Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, ..., Pujol A, Tümer Z

Genet Med 23 (5) 888-899 [2021-05-00; online 2021-02-17]

Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions.

Reisberg S, Krebs K, Lepamets M, ..., Vilo J, Milani L

Genet Med 21 (6) 1345-1354 [2019-06-00; online 2018-10-16]