Litcius/Paper detail

The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis

Karin E. M. Diderich, Jasmijn E. Klapwijk, Vyne van der Schoot, Myrthe van den Born, Martina Wilke, Marieke Joosten, Kyra E. Stuurman, Lies H. Hoefsloot, Diane Van Opstal, Hennie T. Brüggenwirth, Malgorzata I. Srebniak

2023European Journal of Medical Genetics24 citationsDOIOpen Access PDF

Topics & Concepts

Exome sequencingMedicineExomeGenetic testingMultidisciplinary approachPediatricsIntensive care medicineBioinformaticsGeneticsInternal medicineMutationBiologySocial scienceGeneSociologyGenomics and Rare DiseasesPrenatal Screening and DiagnosticsBRCA gene mutations in cancer