@article{https://doi.org/10.17863/cam.75415,
doi = {10.17863/CAM.75415},
url = {https://www.repository.cam.ac.uk/handle/1810/327962},
author = {Bengani,
Hemant and Grozeva,
Detelina and Moyon,
Lambert and Bhatia,
Shipra and Louros,
Susana R and Hope,
Jilly and Jackson,
Adam and Prendergast,
James G and Owen,
Liusaidh J and Naville,
Magali and Rainger,
Jacqueline and Grimes,
Graeme and Halachev,
Mihail and Murphy,
Laura C and Spasic-Boskovic,
Olivera and Van Heyningen,
Veronica and Kind,
Peter and Abbott,
Catherine M and Osterweil,
Emily and Raymond,
F Lucy and Roest Crollius,
Hugues and FitzPatrick,
David R},
keywords = {Animals,
Animals,
Genetically Modified,
Brain,
Chromosome Mapping,
Cohort Studies,
Disease Models,
Animal,
Embryo,
Nonmammalian,
Exome,
Fragile X Mental Retardation Protein,
Gene Frequency,
Genes,
X-Linked,
Genome,
Human,
Genotype,
Humans,
Male,
X-Linked Intellectual Disability,
Mice,
Nerve Tissue Proteins,
Pedigree,
Phenotype,
Regulatory Elements,
Transcriptional,
Tenascin,
Zebrafish},
language = {en},
title = {Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.},
publisher = {Public Library of Science (PLoS)},
year = {2021},
copyright = {Creative Commons Attribution 4.0 International} }