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Article
Open AccessA human embryonic limb cell atlas resolved in space and time
Human limbs emerge during the fourth post-conception week as mesenchymal buds, which develop into fully formed limbs over the subsequent months1. This process is orchestrated by numerous temporally and spatially ...
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Article
Open AccessThe NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer
Whole-genome sequencing (WGS) of cancers is becoming an accepted component of oncological care, and NHS England is currently rolling out WGS for all children with cancer. This approach was piloted during the 1...
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Article
Open AccessGenetic and chemotherapeutic influences on germline hypermutation
Mutations in the germline generates all evolutionary genetic variation and is a cause of genetic disease. Parental age is the primary determinant of the number of new germline mutations in an individual’s genome1
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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 ...
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Article
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
Mosaic variegated aneuploidy is a rare recessive condition characterized by growth retardation, microcephaly, childhood cancer and constitutional mosaicism for chromosomal gains and losses. In five families wi...
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
The filamins are cytoplasmic proteins that regulate the structure and activity of the cytoskeleton by cross-linking actin into three-dimensional networks, linking the cell membrane to the cytoskeleton and serv...
