Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts.
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
