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2. Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.

3. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

4. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

5. First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.

6. Novel clinical and genetic insight into CXorf56-associated intellectual disability.

7. De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

8. Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.

9. C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.

10. Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

11. A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome.

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