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.
4 publications
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
Thomas Bourinaris, Damian Smedley, Valentina Cipriani, et al.
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Eduardo Calpena, Araceli Cuellar, Krithi Bala, et al.
KIF1A-related disorders in children: a wide spectrum of central and peripheral nervous system involvement
Tarishi Nemani, Dora Steel, Marios Kaliakatsos, et al.
Development of a measure of genome sequencing knowledge for young people: The kids-KOGS
Celine Lewis , Bao S. Loe, Chris Sidey-Gibbons and Lyn S. Chitty
