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1. Additional file 2 of Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

2. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

3. Genetic Determinants of Cortical Structure (Thickness, Surface Area and Volumes) among Disease Free Adults in the CHARGE Consortium

4. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

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

6. DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

7. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

8. A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

9. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

10. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

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