Select Publications
Preprints
, 2019, A cooperative network of molecular “hot spots” highlights the complexity of LH3 collagen glycosyltransferase activities, http://dx.doi.org/10.1101/841486
, 2019, Seave: a comprehensive web platform for storing and interrogating human genomic variation, http://dx.doi.org/10.1101/258061
Other
, 2019, Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013)), Elsevier, http://dx.doi.org/10.1016/j.ajhg.2019.03.016