Blog

Reviewers’ Choice Abstract from HUCF

ASHG Event

HUCF has submitted a research abstract to the American Society of Human Genetics Conference 2016 at Vancouver, and its abstract has been selected as Reviewers’ Choice Abstract by American Society of Human Genetic Conference Committee

Abstract Title: Recessive NCOR2 mutations cause a new syndrome with intellectual disability, white matter anomalies, brachycephaly, and midface hypoplasia”

Authors: Wenhui Laura Li1*, Bert B.A. de Vries2*, Grazia M.S. Mancini3*, Anna Ryabets7, He Fu4, Thatjana Gardeitchik2 , Ans van den Ouweland3, Marjon van Slegtenhorst3, Alexander P.A. Stegmann6, Xiang-Jiao Yang5, Mark Borchert8, Philippe M Campeau4

Affiliations

  1. Help Undiagnosed Children Foundation, Arcadia, CA, USA.
  2. Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  3. Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  4. Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.
  5. Rosalind and Morris Goodman Cancer Research Center, Department of Biochemistry, McGill University and Department Medicine, McGill University of Health Center, Montreal, QC, Canada.
  6. Department of Human Genetics, Maastricht University Hospital, Maastricht, The Netherlands
  7. Center for Endocrinology, Diabetes, and Metabolism Children’s Hospital Los Angeles, Los Angeles, CA, USA.
  8. Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA.

* Equally contributing.

Post a comment