A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
One is the loneliest number: genotypic matchmaking using the electronic health record. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
