Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping
Crossref DOI link: https://doi.org/10.1186/s12881-015-0265-z
Published Online: 2016-01-04
Published Print: 2016-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Watson, Christopher M. http://orcid.org/0000-0003-2371-1844
Crinnion, Laura A.
Berry, Ian R.
Harrison, Sally M.
Lascelles, Carolina
Antanaviciute, Agne
Charlton, Ruth S.
Dobbie, Angus
Carr, Ian M.
Bonthron, David T.