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.
