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.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
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.
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
