Show 5 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Park, Soo-Mi" or (type exact bookEditor and editor="Park, Soo-Mi") Add to list Journal Article A1 open access SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, et al. (2022) GENETICS IN MEDICINE. 24(6). p.1261-1273 Add to list Journal Article A1 Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M Pardo, Jill A Rosenfeld, Michael E Talkowski, Ingrid Simonic, Anath C Lionel, Sarah Vergult (UGent) , Robert E Pyatt, et al. (2013) AMERICAN JOURNAL OF HUMAN GENETICS. 92(2). p.210-220