Literature DB >> 21630033

Call for participation in the neurogenetics consortium within the Human Variome Project.

Andrea Haworth1, Lars Bertram, Paola Carrera, Joanna L Elson, Corey D Braastad, Diane W Cox, Marc Cruts, Johann T den Dunnen, Matthew J Farrer, John K Fink, Sherifa A Hamed, Henry Houlden, Dennis R Johnson, Karen Nuytemans, Francesc Palau, Dipa L Raja Rayan, Peter N Robinson, Antonio Salas, Birgitt Schüle, Mary G Sweeney, Michael O Woods, Jorge Amigo, Richard G H Cotton, Maria-Jesus Sobrido.   

Abstract

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.

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Year:  2011        PMID: 21630033     DOI: 10.1007/s10048-011-0287-4

Source DB:  PubMed          Journal:  Neurogenetics        ISSN: 1364-6745            Impact factor:   2.660


  9 in total

1.  A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics.

Authors:  Antonio Salas; Angel Carracedo; Vincent Macaulay; Martin Richards; Hans-Jürgen Bandelt
Journal:  Biochem Biophys Res Commun       Date:  2005-09-30       Impact factor: 3.575

2.  Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.

Authors:  Lars Bertram; Matthew B McQueen; Kristina Mullin; Deborah Blacker; Rudolph E Tanzi
Journal:  Nat Genet       Date:  2007-01       Impact factor: 38.330

3.  The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Authors:  Peter N Robinson; Sebastian Köhler; Sebastian Bauer; Dominik Seelow; Denise Horn; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2008-10-23       Impact factor: 11.025

4.  GENETICS. The Human Variome Project.

Authors:  Richard G H Cotton; Arleen D Auerbach; Myles Axton; Carol Isaacson Barash; Samuel F Berkovic; Anthony J Brookes; John Burn; Garry Cutting; Johan T den Dunnen; Paul Flicek; Nelson Freimer; Marc S Greenblatt; Heather J Howard; Michael Katz; Finlay A Macrae; Donna Maglott; Gabriela Möslein; Sue Povey; Rajkumar S Ramesar; Carolyn S Richards; Daniela Seminara; Timothy D Smith; María-Jesús Sobrido; Jan Helge Solbakk; Rudolph E Tanzi; Sean V Tavtigian; Graham R Taylor; Joji Utsunomiya; Michael Watson
Journal:  Science       Date:  2008-11-07       Impact factor: 47.728

5.  Recommendations of the 2006 Human Variome Project meeting.

Authors:  Richard G H Cotton; William Appelbe; Arleen D Auerbach; Kevin Becker; Walter Bodmer; D Joe Boone; Victor Boulyjenkov; Samir Brahmachari; Lawrence Brody; Anthony Brookes; Alastair F Brown; Peter Byers; Jose Maria Cantu; Jean-Jacques Cassiman; Mireille Claustres; Patrick Concannon; Richard G H Cotton; Johan T den Dunnen; Paul Flicek; Richard Gibbs; Judith Hall; Julia Hasler; Michael Katz; Pui-Yan Kwok; Sandrine Laradi; Annika Lindblom; Donna Maglott; Steven Marsh; Collen Muto Masimirembwa; Shinsei Minoshima; Ana Maria Oller de Ramirez; Roberta Pagon; Raj Ramesar; David Ravine; Sue Richards; David Rimoin; Huijun Z Ring; Charles R Scriver; Stephen Sherry; Nobuyoshi Shimizu; Lincoln Stein; Ghazi Omar Tadmouri; Graham Taylor; Michael Watson
Journal:  Nat Genet       Date:  2007-04       Impact factor: 38.330

6.  Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

Authors:  Sylvie Tuffery-Giraud; Christophe Béroud; France Leturcq; Rabah Ben Yaou; Dalil Hamroun; Laurence Michel-Calemard; Marie-Pierre Moizard; Rafaëlle Bernard; Mireille Cossée; Pierre Boisseau; Martine Blayau; Isabelle Creveaux; Anne Guiochon-Mantel; Bérengère de Martinville; Christophe Philippe; Nicole Monnier; Eric Bieth; Philippe Khau Van Kien; François-Olivier Desmet; Véronique Humbertclaude; Jean-Claude Kaplan; Jamel Chelly; Mireille Claustres
Journal:  Hum Mutat       Date:  2009-06       Impact factor: 4.878

7.  Planning the human variome project: the Spain report.

Authors:  Jim Kaput; Richard G H Cotton; Lauren Hardman; Michael Watson; Aida I Al Aqeel; Jumana Y Al-Aama; Fahd Al-Mulla; Santos Alonso; Stefan Aretz; Arleen D Auerbach; Bharati Bapat; Inge T Bernstein; Jong Bhak; Stacey L Bleoo; Helmut Blöcker; Steven E Brenner; John Burn; Mariona Bustamante; Rita Calzone; Anne Cambon-Thomsen; Michele Cargill; Paola Carrera; Lawrence Cavedon; Yoon Shin Cho; Yeun-Jun Chung; Mireille Claustres; Garry Cutting; Raymond Dalgleish; Johan T den Dunnen; Carlos Díaz; Steven Dobrowolski; M Rosário N dos Santos; Rosemary Ekong; Simon B Flanagan; Paul Flicek; Yoichi Furukawa; Maurizio Genuardi; Ho Ghang; Maria V Golubenko; Marc S Greenblatt; Ada Hamosh; John M Hancock; Ross Hardison; Terence M Harrison; Robert Hoffmann; Rania Horaitis; Heather J Howard; Carol Isaacson Barash; Neskuts Izagirre; Jongsun Jung; Toshio Kojima; Sandrine Laradi; Yeon-Su Lee; Jong-Young Lee; Vera L Gil-da-Silva-Lopes; Finlay A Macrae; Donna Maglott; Makia J Marafie; Steven G E Marsh; Yoichi Matsubara; Ludwine M Messiaen; Gabriela Möslein; Mihai G Netea; Melissa L Norton; Peter J Oefner; William S Oetting; James C O'Leary; Ana Maria Oller de Ramirez; Mark H Paalman; Jillian Parboosingh; George P Patrinos; Giuditta Perozzi; Ian R Phillips; Sue Povey; Suyash Prasad; Ming Qi; David J Quin; Rajkumar S Ramesar; C Sue Richards; Judith Savige; Dagmar G Scheible; Rodney J Scott; Daniela Seminara; Elizabeth A Shephard; Rolf H Sijmons; Timothy D Smith; María-Jesús Sobrido; Toshihiro Tanaka; Sean V Tavtigian; Graham R Taylor; Jon Teague; Thoralf Töpel; Mollie Ullman-Cullere; Joji Utsunomiya; Henk J van Kranen; Mauno Vihinen; Elizabeth Webb; Thomas K Weber; Meredith Yeager; Young I Yeom; Seon-Hee Yim; Hyang-Sook Yoo
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

8.  Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.

Authors:  Richard G H Cotton; Aida I Al Aqeel; Fahd Al-Mulla; Paola Carrera; Mireille Claustres; Rosemary Ekong; Valentine J Hyland; Finlay A Macrae; Makia J Marafie; Mark H Paalman; George P Patrinos; Ming Qi; Rajkumar S Ramesar; Rodney J Scott; Rolf H Sijmons; María-Jesús Sobrido; Mauno Vihinen
Journal:  Genet Med       Date:  2009-12       Impact factor: 8.822

Review 9.  Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Authors:  Karen Nuytemans; Jessie Theuns; Marc Cruts; Christine Van Broeckhoven
Journal:  Hum Mutat       Date:  2010-07       Impact factor: 4.878

  9 in total
  1 in total

Review 1.  The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

Authors:  Judy Savige; Raymond Dalgleish; Richard Gh Cotton; Johan T den Dunnen; Finlay Macrae; Sue Povey
Journal:  Pediatr Nephrol       Date:  2014-11-11       Impact factor: 3.714

  1 in total

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