De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Jean‐Baptiste Rivière(Seattle Children's Hospital), Bregje W.M. van Bon(Radboud University Nijmegen), Alexander Hoischen(Radboud University Nijmegen), Stanislav S. Kholmanskikh(Cornell University), Brian J. O’Roak(University of Washington), Christian Gilissen(Radboud University Nijmegen), Sabine Gijsen(Radboud University Medical Center), Christopher T. Sullivan(Seattle Children's Hospital), Susan L. Christian(Seattle Children's Hospital), Omar Abdul‐Rahman(University of Mississippi Medical Center), Joan Atkin(The Ohio State University), Nicolas Chassaing(Université Toulouse III - Paul Sabatier), Valérie Drouin‐Garraud(Université de Rouen Normandie), Andrew E. Fry(University Hospital of Wales), Jean‐Pierre Fryns, Karen W. Gripp(Alfred I. duPont Hospital for Children), Marlies Kempers(Radboud University Medical Center), Tjitske Kleefstra(Radboud University Nijmegen), Grazia M.S. Mancini(Erasmus MC), Małgorzata J.M. Nowaczyk(McMaster University), Conny M.A. van Ravenswaaij‐Arts(University Medical Center Groningen), Tony Roscioli(Radboud University Nijmegen), Michael Marble(Louisiana State University), Jill A. Rosenfeld(PerkinElmer (United States)), Victoria Mok Siu(Western University), Bert B.A. de Vries(Radboud University Medical Center), Jay Shendure(University of Washington), Alain Verloès(Hôpital Robert-Debré), Joris A. Veltman(Radboud University Medical Center), Han G. Brunner(Radboud University Medical Center), M. Elizabeth Ross(Cornell University), Daniela T. Pilz(University Hospital of Wales), William B. Dobyns(University of Washington)
Nature Genetics
February 26, 2012
Cited by 306Open Access
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