Cardiology/Neurology

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

  • Authors: Lijiang Ma; Yavuz Bayram; Heather M. McLaughlin; Megan Cho; Alyson Krokosky; Clesson Turner; Kristin Lindstrom; Caleb Bupp; Katey Mayberry; Weiyi Mu; Joann Bodurtha; Veronique Weinstein; Neda Zadeh; Wendy A. Alcaraz; Zoe Powis; Yunru Shao; Daryl Scott; Andrea M. Lewis; Janson White; Shalani Jhangiani; Elif Yilmaz Gulec; Seema Lalani; James R. Lupski; Kyle Retterer; Rhonda E Schnur; Ingrid M. Wentzensen; Sherri Bale; Wendy K. Chung
  • Collaborators: Baylor College of Medicine; Children's National Medical Center; Columbia University; GeneDx; Genetics Center; Johns Hopkins University School of Medicine; Kanuni Sultan Suleyman Training and Research Hospital; Phoenix Children's Hospital; Spectrum Health, Grand Rapids; Texas Children's Hospital; Walter Reed National Military Medical Center
  • Journal: Human genetics
  • Date: 2016 - Sep

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