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Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation

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A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

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Identification by whole‐exome sequencing of novel mutation c.64C > G in the BTK gene of a fetus with X‐linked agammaglobulinemia

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A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy

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