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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Schaaf CP, et al. Among authors: mcelwain ma. Nat Genet. 2013 Nov;45(11):1405-8. doi: 10.1038/ng.2776. Epub 2013 Sep 29. Nat Genet. 2013. PMID: 24076603 Free PMC article.
Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing.
Peters BA, Kermani BG, Alferov O, Agarwal MR, McElwain MA, Gulbahce N, Hayden DM, Tang YT, Zhang RY, Tearle R, Crain B, Prates R, Berkeley A, Munné S, Drmanac R. Peters BA, et al. Among authors: mcelwain ma. Genome Res. 2015 Mar;25(3):426-34. doi: 10.1101/gr.181255.114. Epub 2015 Feb 11. Genome Res. 2015. PMID: 25672852 Free PMC article.