Fountain MD, et al. The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families. Genet Med. 2017; 19(1):45-52. PMID:27195816.
Fountain MD, et al. Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene. Diseases. 2016; 4(1). pii: E2. PMID:28933382.
Mejlachowicz D, et al. Truncating mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. Am J Hum Genet. 2015; 97(4):616-620. PMID:26365340.
Schaaf CP, et al. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet. 2013; 45(11):1405-1408. PMID:24076603.
Kanber D, et al. A paternal deletion of MKRN3, MAGEL2, and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet. 2009; 17(5):582-590. PMID:19066619.