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1. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

2. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

3. De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

6. Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

8. Clinical and Cytogenetic Characterization of 13 Dutch Patients With Deletion 9p Syndrome: Delineation of the Critical Region for a Consensus Phenotype

9. Correction to: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)

10. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

11. De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

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