Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Cornelis A. Albers, Dirk S. Paul, Harald Schulze, Kathleen Freson, Jonathan C. Stephens, Peter A. Smethurst, Jennifer D. Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone, Martijn H. Breuning, Najet Debili, Panos Deloukas, Remi Favier, Janine Fiedler, Catherine M. Hobbs, Ni Huang, Matthew E. Hurles, Graham Kiddle, Ingrid KrapelsPaquita Nurden, Claudia A. L. Ruivenkamp, Jennifer G. Sambrook, Kenneth Smith, Derek L. Stemple, Gabriele Strauss, Chantal Thys, Chris van Geet, Ruth Newbury-Ecob, Willem H. Ouwehand, Cedric Ghevaert

Research output: Contribution to journalArticleAcademicpeer-review

152 Citations (Scopus)
Original languageEnglish
Pages (from-to)435-U248
JournalNature Genetics
Volume44
Issue number4
DOIs
Publication statusPublished - Apr 2012

Cite this

Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., Deloukas, P., Favier, R., Fiedler, J., Hobbs, C. M., Huang, N., Hurles, M. E., Kiddle, G., ... Ghevaert, C. (2012). Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nature Genetics, 44(4), 435-U248. https://doi.org/10.1038/ng.1083