Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
Curtis R Coughlin MS, MBe, Michael A Swanson phD, Kathryn Kronquist phD, Elaine Spector phD, Geralyn Creadon-Swindell BS, Gunter H Scharer MD, PhD & Johan L K Van Hove MD, PhD
Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children’s Hospital Colorado, Aurora, Colorado, USA
Kathryn Kronquist phD, Elaine Spector phD & Geralyn Creadon-Swindell BS
Service Maladies Héréditaires du Métabolisme, Centre de Biologie Est, CHU de Lyon, Lyon, France
Cécile Acquaviva PharmD, PhD & Christine Vianey-Saban PharmD, PhD
Newborn Screening and Biochemical Genetics, Birmingham Children’s Hospital, Birmingham, UK
Tim Hutchin BSc, PhD & Ana M Brás-Goldberg BSc, PhD
Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), CBM-SO, (UAM-CISC), Centro de Investigación en Red de Enfermedades Raras (CIBERER), IDIPAZ, Universidad Autónoma Madrid, Madrid, Spain
Pilar Rodríguez-Pombo phD, Irene Bravo-Alonso MS, Celia Pérez-Cerdá phD & Magdalena Ugarte phD
Research Group of Cancer Research and Translational Medicine, University of Oulu, Oulu, and Northern Finland Laboratory Centre Nordlab, Oulu, Finland
Marja-Leena Väisänen phD
PEDEGO Research Unit, Medical Research Center, Department of Clinical Genetics, Oulu University Hospital and University of Oulu, Oulu, Finland
Elisa Rahikkala MD, PhD & Jukka S Moilanen MD, PhD
Center for Human Genetics, University of Leuven, Leuven, Belgium
Vincent Mahieu MS & Gert Matthijs phD
Section of Medical Genetics and Genomics, Children’s Hospitals and Clinics of Minnesota, Minneapolis, Minnesota, USA
Gunter H Scharer MD, PhD