Litcius/Paper detail

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome

Susan M. White, Elizabeth Bhoj, Christoffer Nellåker, Augusta M.A. Lachmeijer, Aren E. Marshall, Kym M. Boycott, Dong Li, Wendy E. Smith, Taila Hartley, Arran McBride, Michelle Ernst, Alison S. May, Dagmar Wieczorek, Rami Abou Jamra, Margarete Koch‐Hogrebe, Katrin Õunap, Sander Pajusalu, Koen L.I. van Gassen, Simon Sadedin, Sara Ellingwood, Tiong Yang Tan, John Christodoulou, Jaime Barea, Paul J. Lockhart, Marjan M. Nezarati, Kristin D. Kernohan

2021The American Journal of Human Genetics16 citationsDOIOpen Access PDF

Topics & Concepts

DDB1BiologyUbiquitin ligaseDNA repairGeneticsHypotoniaPhenotypeDNA damageUbiquitinDNAGeneGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesDNA Repair Mechanisms