Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder.
A whole genome approach for discovering the genetic basis of blood group antigens: independent confirmation for P1 and Xga.
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns.
