Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
Authors: Ash Zawerton; Cyril Mignot; Ashley Sigafoos; Patrick R Blackburn; Abdul Haseeb; Kirsty McWalter; Shoji Ichikawa; Caroline Nava; Boris Keren; Perrine Charles; Isabelle Marey; Anne-Claude Tabet; Johnathan Levy; Laurence Perrin; Andreas Hartmann; Gaetan Lesca; Caroline Schluth-Bolard; Pauline Monin; Sophie Dupuis-Girod; Maria J. Guillen Sacoto; Rhonda E Schnur; Zehua Zhu; Alice Poisson; Salima El Chehadeh; Yves Alembik; Ange-Line Bruel; Daphne Lehalle; Sophie Nambot; Sebastien Moutton; Sylvie Odent; Sylvie Jailard; Christele Dubourg; Yvonne Hilhorst-Hofstee; Tina Barbaro-Dieber; Lucia Ortega; Elizabeth J. Bhoj; Diane Masser-Frye; Lynne M. Bird; Kristin Lindstrom; Keri Ramsey; Vinodh Narayanan; Emily Fassi; Marcia C. Willing; Trevor Cole; Claire Salter; Rhoda Akilapa; Anthony Vandersteen; Natalie Canham; Patrick Rump; Erica H. Gerkes; Jolien Klein Wassink-Ruiter; Emilia K. Bijlsma; Mariette J.V. Hoffer; Marcelo Vargas; Antonina Wojcik; Florian Cherik; Christine Francannet; Jill A. Rosenfeld; Keren Machol; Daryl Scott; Carlos A. Bacino; Xia Wang; Gary Clark; Marta Bertoli; Simon Zwolinski; Rhys H. Thomas; Ela Akay; Richard C. Chang; Rebekah Bressi; Rossana Sanchez Russo; Myriam Srour; Laura Russell; Anne-Marie E Goyette; Lucie Dupuis; Roberto Mendoza-Londono; Catherine Karimov; Maries Joseph; Mathilde Nizon; Benjamin Cogne; Alma Kuechler; Amelie Piton; Eric W. Klee; Veronique Lefebvre; Karl J Clark; Christel Depienne
Collaborators: APHP, GH Pitié Salpêtrière, Department of Genetics, Unit of Development Genomics; Baylor College of Medicine; Centre de référence de la maladie de Rendu-Osler; Children's Hospital and Clinics of Minnesota; Children's Hospital of Orange County, CA (CHOC); Children's Hospital of Philadelphia; CHU Nantes, Service de Génétique Médicale, Nantes, France; Cleveland Clinic; Cook Children's Medical Center; Dalhousie University; Département de Génétique Médicale, CHU de Hautepierre, Strasbourg, France; Emory University; FHU-TRANSLAD; GeneDx; Gillette Children's Specialty Healthcare; Hospices Civils de Lyon; Inserm; Institut Pasteur, Paris, France; La Pitié-Salpêtrière Hospital; Liverpool Women's Hospital; Mayo Clinic; McGill University Health Center; Northern Genetics Service-Newcastle upon Tyne NHS Foundation Trust; Northwick Park Hospital; Phoenix Children's Hospital; Rady Children's Hospital San Diego; Riley Hospital for Children; Robert Debré Hospital, APHP, Paris, France; Service de Génétique Clinique, CHU Rennes; The Francis Crick Institute; The Hospital for Sick Children, The University of Toronto; Translational Genomics Research Institute; Universitätsklinikum Essen; University Medical Center Groningen; University of California, San Diego; University of Exeter Medical School; Valley Children's Hospital; Washington University School of Medicine, St. Louis Children’s Hospital