Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Identification of common genetic risk variants for autism spectrum disorder. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
