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189 publications
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme
Alona Sosinsky, John Ambrose, William Cross, et al.
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4
Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, et al.
Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease
Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, et al
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
J Robert Harkness, Huw B Thomas, Jill E Urquhart, et al
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Vincenzo Salpietro, Reza Maroofian, Maha S. Zaki et al.
