3 Result(s)
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Article
Open AccessWhole genome sequencing reveals that genetic conditions are frequent in intensively ill children
With growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical d...
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Article
Open AccessConsensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas
As a large number of genes have been implicated in the development of hereditary phaeochromocytomas and paragangliomas (PPGLs), next-generation sequencing (NGS) technology is ideally suited for carrying out ge...
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Article
Open AccessTowards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times
The commonest autosomal deletion, 22q11.2 deletion syndrome (22q11DS) is a multisystem disorder varying greatly in severity and age of identification between affected individuals. Holistic care is best served ...
