Recessive mutations in <i>VPS13D</i> cause childhood onset movement disordersJulie Gauthier, Philippe M. Campeau, Inge A. Meijer et al.|Annals of Neurology|2018Cited by 133
Novel <i><scp>B3GALTL</scp></i> mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypesEric Weh, Elena V. Semina, William J. Rhead et al.|Clinical Genetics|2013Cited by 49