Newcastle University

Publication:

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation (2012)

Author(s): Tan HL, Glen E, Topf A, Hall D, O'Sulliyan JJ, Sneddon L, Wren C, Avery P, Lewis RJ, ten Dijke P, Arthur HM, Goodship JA, Keavney BD

• Date: 14-02-2012
• Journal: Human Mutation
• Volume: 33
• Issue: 4
• Pages: 720-727
• Publisher: John Wiley & Sons, Inc.
• Publication type: Article
• Bibliographic status: Published

• URL: http://dx.doi.org/10.1002/humu.22030
• DOI: 10.1002/humu.22030
• ISSN (electronic): 1098-1004

Keywords: rare genetic variants congenital heart defects BMP SMAD BONE MORPHOGENETIC PROTEIN-2 HEART-DEFECTS OUTFLOW-TRACT FUNCTIONAL-CHARACTERIZATION NKX2.5 MUTATIONS I RECEPTORS DISEASE MOUSE BMP2 DIFFERENTIATION

Staff

Dr Helen Arthur Senior Lecturer	Email: helen.arthur@ncl.ac.uk Telephone: +44 (0) 191 241 8648
Professor Judith Goodship Professor of Medical Genetics	Email: judith.goodship@ncl.ac.uk Telephone: +44 (0) 191 241 8747
Dr Darroch Hall Technician	Email: darroch.hall@ncl.ac.uk Telephone: +44 (0) 191 241 8653
Professor Bernard Keavney Professor of Cardiology	Email: bernard.keavney@ncl.ac.uk Telephone: +44 (0) 191 241 8615
Linda Sneddon Genetic Research Nurse	Email: l.m.sneddon@ncl.ac.uk Telephone: +44 (0) 191 223 1522
Dr Ana Topf Research Associate	Email: ana.topf@ncl.ac.uk Telephone: +44 (0) 191 241 8653