Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.
Readily-accessible and standardised capture of genotypic variation has revolutionised our understanding of the genetic contribution to disease. Unfortunately, the corresponding systematic capture of patient phenotypic variation needed to fully interpret the impact of genetic variation has lagged far...
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| Main Authors: | Tallulah Andrews, Stephen Meader, Anneke Vulto-van Silfhout, Avigail Taylor, Julia Steinberg, Jayne Hehir-Kwa, Rolph Pfundt, Nicole de Leeuw, Bert B A de Vries, Caleb Webber |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2015-03-01
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| Series: | PLoS Genetics |
| Online Access: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1005012&type=printable |
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