| 1 | CUL4B, DDB1, HIDDA, PHIP |
| A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome | |
| White SM, Bhoj E, Nellåker C, Lachmeijer AMA, Marshall AE, Boycott KM, Li D, Smith W, Hartley T, McBride A, Ernst ME, May AS, Wieczorek D, Abou Jamra R, Koch-Hogrebe M, Õunap K, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S, Tan TY, Christodoulou J, Barea J, Lockhart PJ; Care4Rare Canada Consortium, Nezarati MM, Kernohan KD. | |
| Am J Hum Genet. Apr 1;108(4):749-756. doi: 10.1016/j.ajhg.2021.03.007. Epub 2021 Mar 19. 2021 | |