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Whole-genome sequencing of patients with rare diseases in a national health system

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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

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