Publication
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
Amy J. LaCroix, Deborah Stabley, Rebecca Sahraoui, Margaret P. Adam, Michele Mehaffey, Kelly Kernan, Candace T. Myers, Carrie Fagerstrom, George Anadiotis, Yassmine M. Akkari, Katherine M. Robbins, Karen W. Gripp, Wagner A.R. Baratela, Michael B. Bober, Angela L. Duker, Dan Doherty, Jennifer C. Dempsey, Daniel G. Miller, Martin Kircher, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Katia Sol-Church
The American Journal of Human Genetics, January 2019, Elsevier
DOI: 10.1016/j.ajhg.2018.11.005