Description and first insights on a large genomic biobank of lung transplantation
Identification Of Pathogenic Mutations And Application Of Polygenic Risk Scores To Differentiate MODY Patients From Other Diabetes Types
Efficient variant phasing utilizing a replication cycle reaction system
Does genomic profiling improve clinical outcome in carcinoma of unknown primary? - A systematic review
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32
Ehmt2 Loss-of-function Alterations Cause a Kleefstra-like Syndrome
Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations
SMCHD1 genetic variants in type 2 FacioScapuloHumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes and establishment of LEO1 as a novel disease gene
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