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1. Diagnostic abnormalities, disease severity and immunotherapy responsiveness in individuals with Down syndrome regression disorder.

2. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

3. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

6. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.

7. Anovel de novo intronic variant in ITPR1 causes Gillespie syndrome

8. The Rac-GEF Tiam1 Promotes Dendrite and Synapse Stabilization of Dentate Granule Cells and Restricts Hippocampal-Dependent Memory Functions

9. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

10. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

11. The Rac-GEF Tiam1 Promotes Dendrite and Synapse Stabilization of Dentate Granule Cells and Restricts Hippocampal-Dependent Memory Functions.

12. eP129 - Anovel de novo intronic variant in ITPR1 causes Gillespie syndrome.

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