A list of publications arising from our work is shown below. If you know of a relevant publication not listed here, please let us know via email.
13 publications
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis
Nicholas Owen, Maria Toms, Rodrigo M. Young, et al.
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance
Neringa Jurkute, Fabiana D’Esposito, Anthony G Robson, et al.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
Neringa Jurkute, Priya D. Shanmugarajah, Marios Hadjivassiliou, et al.
Ocular Phenotype Associated with DYRK1A Variants
Cécile Méjécase, Christopher M. Way, Nicholas Owen and Mariya Moosajee
