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Article
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
July 01, 2021
Article
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
July 01, 2021
Article
Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science
February 01, 2021
Article
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
September 02, 2021
Article
Stankiewicz-Isidor syndrome: Expanding the clinical and molecular phenotype
January 01, 2022
News Release
Three Babies with Spinal Muscular Atrophy Have Bright Futures Thanks in Part to North Carolina’s Early Check Program
May 27, 2021
Article
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
February 04, 2021