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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

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Whole-genome sequencing of quartet families with autism spectrum disorder

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Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

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Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

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SHANK1 Deletions in Males with Autism Spectrum Disorder

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Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

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Genome-wide characteristics of de novo mutations in autism

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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

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Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

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Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder

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Symmetrical dose-dependent dna-methylation profiles in children with deletion or duplication of 7q11.23

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An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome

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