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.
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.
