Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
Sara Nagy(University of Basel), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Somwe Wa Somwe(University of Lusaka), Lenika De Simone(Lurie Children's Hospital), Zahra Firoozfar, David Bearden(University of Lusaka), Anna Uhrová Mészárosová(Charles University), Dorothy K. Grange(Washington University in St. Louis), R. Brian Sommerville(St. Louis Children's Hospital), Benno Küsters(Radboud University Nijmegen), Michelle Kvalsund(University of Lusaka), Mary M. Reilly(University College London), Eppie R. Jones(Trinity College Dublin), Elisa Calì(National Hospital for Neurology and Neurosurgery), Melissa Nel(University of Cape Town), Saiju Jacob(Institute of Immunology), Orly Elpeleg(Hadassah Medical Center), Rita Horváth(Wellcome Centre for Mitochondrial Research), Marc Gotkine, Veronica Pini(Great Ormond Street Hospital), Kristen Wigby(Children’s Institute), Jeannine M. Heckmann(University of Cape Town), Mahta Mazaheri(Shahid Sadoughi University of Medical Sciences and Health Services), Alistair T. Pagnamenta(University College London), Anna Sárközy(Great Ormond Street Hospital), Dana Thomasová(Charles University), Luke Perry(London International Development Centre), Hilde M. H. Braakman(Radboud University Nijmegen), Gianina Ravenscroft(Harry Perkins Institute of Medical Research), Jennifer Friedman(Rady Children's Hospital-San Diego), Henry Houlden(University College London), Shahryar Alavi(National Hospital for Neurology and Neurosurgery), J. Parmar(The University of Western Australia), Vardiella Meiner(Hadassah Medical Center), Anne‐Marie Childs(Leeds Teaching Hospitals NHS Trust), Jerica Lenberg(Rady Children's Hospital-San Diego), Juerd Wijntjes(Radboud University Nijmegen), Musambo M Kapapa(University of Zambia), Francesco Muntoni(King's College London), Mary O’Driscoll(Birmingham Women's Hospital), Phillipa J. Lamont(Royal Perth Hospital), Arman Çakar(National Hospital for Neurology and Neurosurgery), Declan O’Rourke, Alexander M. Rossor(MRC Prion Unit)
Cited by 6
Related Papers
Genome-wide association study reveals genetic risk underlying Parkinson's disease
|Nature Genetics|2009|2k
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|Science Translational Medicine|2017|805
The genomic history of southeastern Europe
|Nature|2018|735
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
|Nature Genetics|2007|702
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
|Nature Genetics|2001|618