caa a22 4500 445364513 CHVBK 20180317142925.0 cr unu---uuuuu 170323e20110801xx s 000 0 eng 10.1007/s10048-011-0287-4 doi (NATIONALLICENCE)springer-10.1007/s10048-011-0287-4 Call for participation in the neurogenetics consortium within the Human Variome Project [Elektronische Daten] [Andrea Haworth, Lars Bertram, Paola Carrera, Joanna Elson, Corey Braastad, Diane Cox, Marc Cruts, Johann den Dunnen, Matthew Farrer, John Fink, Sherifa Hamed, Henry Houlden, Dennis Johnson, Karen Nuytemans, Francesc Palau, Dipa Rayan, Peter Robinson, Antonio Salas, Birgitt Schüle, Mary Sweeney, Michael Woods, Jorge Amigo, Richard Cotton, Maria-Jesus Sobrido] The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the "Neurogenetics Consortium” under the umbrella of the Human Variome Project. The Consortium's founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource. Springer-Verlag, 2011 Human Variome project nationallicence Neurogenetics consortium nationallicence Database nationallicence Genetic variation nationallicence Standardisation nationallicence Phenotype nationallicence Haworth Andrea Neurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and Neurosurgery, Queen Square, London, UK aut Bertram Lars Neuropsychiatric Genetic Vertebrate Genomics, Max-Planck Institute for Molecular Genetics, Berlin, Germany aut Carrera Paola San Raffaele Scientific Institute, Center for Translational Genomics and Bioinformatics, Unit of Genomics for Human Disease Diagnosis and Laboraf, Milan, Italy aut Elson Joanna Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK aut Braastad Corey Athena Diagnostics, Worcester, MA, USA aut Cox Diane Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada aut Cruts Marc Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium aut den Dunnen Johann Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands aut Farrer Matthew Centre for Applied Neurogenetics, Brain Research Centre, University of British Columbia, Vancouver, BC, Canada aut Fink John Department of Neurology and Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, University of Michigan, Ann Arbor, MI, USA aut Hamed Sherifa Department of Neurology and Psychiatry, Assiut University Hospital, Assiut, Egypt aut Houlden Henry MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, WC1N 3BG, London, UK aut Johnson Dennis Evidence Based Healthcare Consulting, LCC, Cheshire, CT, USA aut Nuytemans Karen Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium aut Palau Francesc Institute of Biomedicine of Valencia, CSIC and Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Valencia, Spain aut Rayan Dipa MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, WC1N 3BG, London, UK aut Robinson Peter Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany aut Salas Antonio Genetics Unit, Department of Pathology and Forensic Sciences, Institute of Legal Medicine, School of Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain aut Schüle Birgitt The Parkinson's Institute and Clinical Center, Sunnyvale, CA, USA aut Sweeney Mary Neurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and Neurosurgery, Queen Square, London, UK aut Woods Michael Discipline of Genetics, Memorial University of Newfoundland, St. John's, NL, Canada aut Amigo Jorge Genomic Medicine Group, University of Santiago de Compostela, Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Santiago de Compostela, Spain aut Cotton Richard Genomic Disorders Research Centre and Department of Medicine (St. Vincent's), University of Melbourne, Melbourne, Victoria, Australia aut Sobrido Maria-Jesus Fundación Pública Galega de Medicina Xenómica, Travesía da Choupana s/n, 15706, Santiago de Compostela, Spain aut neurogenetics Springer-Verlag 12/3(2011-08-01), 169-173 1364-6745 12:3<169 2011 12 10048 https://doi.org/10.1007/s10048-011-0287-4 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-011-0287-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Haworth Andrea Neurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and Neurosurgery, Queen Square, London, UK aut NATIONALLICENCE 700 1- Bertram Lars Neuropsychiatric Genetic Vertebrate Genomics, Max-Planck Institute for Molecular Genetics, Berlin, Germany aut NATIONALLICENCE 700 1- Carrera Paola San Raffaele Scientific Institute, Center for Translational Genomics and Bioinformatics, Unit of Genomics for Human Disease Diagnosis and Laboraf, Milan, Italy aut NATIONALLICENCE 700 1- Elson Joanna Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK aut NATIONALLICENCE 700 1- Braastad Corey Athena Diagnostics, Worcester, MA, USA aut NATIONALLICENCE 700 1- Cox Diane Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada aut NATIONALLICENCE 700 1- Cruts Marc Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium aut NATIONALLICENCE 700 1- den Dunnen Johann Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands aut NATIONALLICENCE 700 1- Farrer Matthew Centre for Applied Neurogenetics, Brain Research Centre, University of British Columbia, Vancouver, BC, Canada aut NATIONALLICENCE 700 1- Fink John Department of Neurology and Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, University of Michigan, Ann Arbor, MI, USA aut NATIONALLICENCE 700 1- Hamed Sherifa Department of Neurology and Psychiatry, Assiut University Hospital, Assiut, Egypt aut NATIONALLICENCE 700 1- Houlden Henry MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, WC1N 3BG, London, UK aut NATIONALLICENCE 700 1- Johnson Dennis Evidence Based Healthcare Consulting, LCC, Cheshire, CT, USA aut NATIONALLICENCE 700 1- Nuytemans Karen Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium aut NATIONALLICENCE 700 1- Palau Francesc Institute of Biomedicine of Valencia, CSIC and Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Valencia, Spain aut NATIONALLICENCE 700 1- Rayan Dipa MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, WC1N 3BG, London, UK aut NATIONALLICENCE 700 1- Robinson Peter Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany aut NATIONALLICENCE 700 1- Salas Antonio Genetics Unit, Department of Pathology and Forensic Sciences, Institute of Legal Medicine, School of Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain aut NATIONALLICENCE 700 1- Schüle Birgitt The Parkinson's Institute and Clinical Center, Sunnyvale, CA, USA aut NATIONALLICENCE 700 1- Sweeney Mary Neurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and Neurosurgery, Queen Square, London, UK aut NATIONALLICENCE 700 1- Woods Michael Discipline of Genetics, Memorial University of Newfoundland, St. John's, NL, Canada aut NATIONALLICENCE 700 1- Amigo Jorge Genomic Medicine Group, University of Santiago de Compostela, Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Santiago de Compostela, Spain aut NATIONALLICENCE 700 1- Cotton Richard Genomic Disorders Research Centre and Department of Medicine (St. Vincent's), University of Melbourne, Melbourne, Victoria, Australia aut NATIONALLICENCE 700 1- Sobrido Maria-Jesus Fundación Pública Galega de Medicina Xenómica, Travesía da Choupana s/n, 15706, Santiago de Compostela, Spain aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/3(2011-08-01), 169-173 1364-6745 12:3<169 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer