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TITLE: Rare SUZ12 variants commonly cause an overgrowth phenotype  Full Text
AUTHORS: Sharri S Cyrus; Ana S A Cohen; Ruky Agbahovbe; Kristiina Avela; Kit S Yeung; Brian H Y Chung; Ho Ming Luk; Nataliya Tkachenko; Sanaa Choufani; Rosanna Weksberg; Elena Lopez Rangel; Kathleen Brown; Margarita S Saenz; Shayna Svihovec; Shawn E McCandless; Lynne M Bird; Aixa G Garcia; Michael J Gambello; Kirsty McWalter; Rhonda E Schnur; Jianghong H An; Steven J M Jones; Sanjiv K Bhalla; Hailey Pinz; Stephen R Braddock; William T Gibson; ...More
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
INDEXED IN: Scopus WOS
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TITLE: Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro  Full Text
AUTHORS: Ana S A Cohen; Damian B Yap; Suzanne E S Lewis; Chieko Chijiwa; Maria A Ramos Arroyo; Natalia Tkachenko; Valentina Milano; Melanie Fradin; Margaret L McKinnon; Katelin N Townsend; Jieqing Q Xu; Van Allen, MI; Colin J D Ross; William B Dobyns; David D Weaver; William T Gibson;
PUBLISHED: 2016, SOURCE: HUMAN MUTATION, VOLUME: 37, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef