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

Neurogenetics

Volumn 12, Issue 3, 2011, Pages 169-173

  Haworth, Andrea ^a   Bertram, Lars ^b   Carrera, Paola ^c   Elson, Joanna L ^d   Braastad, Corey D ^e   Cox, Diane W ^f   Cruts, Marc ^g   Den Dunnen, Johann T ^h   Farrer, Matthew J ⁱ   Fink, John K ^j   Hamed, Sherifa A ^k   Houlden, Henry ^l   Johnson, Dennis R ^m   Nuytemans, Karen ^g   Palau, Francesc ⁿ   Rayan, Dipa L Raja ^l   Robinson, Peter N ^o   Salas, Antonio ^p   Schüle, Birgitt ^q   Sweeney, Mary G ^a   Woods, Michael O ^r   Amigo, Jorge ^s   Cotton, Richard G H ^t   Sobrido, Maria Jesus ^u,v   more..

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e ATHENA DIAGNOSTICS INC   (United States)

^f UNIVERSITY OF ALBERTA   (Canada)

^g UNIVERSITY OF ANTWERP   (Belgium)

^h LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^j UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^k ASSIUT UNIVERSITY   (Egypt)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

^m Evidence Based Healthcare Consulting LCC   (United States)

ⁿ CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^o CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^p Institute of Legal Medicine   (Spain)

^q PARKINSON S INSTITUTE   (United States)

^r MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^s UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^t UNIVERSITY OF MELBOURNE   (Australia)

^u Fundacion Publica Galega de Medicina Xenomica   (Spain)

^v INSTITUTO DE SALUD CARLOS III   (Spain)

more..

Author keywords

Database; Genetic variation; Human Variome Project; Neurogenetics consortium; Phenotype; Standardisation

Indexed keywords

DNA;

ARTICLE; DNA DETERMINATION; DNA SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEALTH CARE ORGANIZATION; HUMAN; HUMAN VARIOME PROJECT; INTERDISCIPLINARY RESEARCH; NEUROLOGIC DISEASE; PRIORITY JOURNAL; ALGORITHM; GENETIC DATABASE; GENETICS; HUMAN GENOME PROJECT; INTERNATIONAL COOPERATION; MEDICAL GENETICS; METABOLISM; NERVOUS SYSTEM; ORGANIZATION; ORGANIZATION AND MANAGEMENT; PHYSIOLOGY; RESEARCH; STANDARD;

ALGORITHMS; CONGRESSES AS TOPIC; DATABASES, GENETIC; GENETIC VARIATION; GENETICS, MEDICAL; HUMAN GENOME PROJECT; HUMANS; INTERNATIONAL COOPERATION; NERVOUS SYSTEM; NERVOUS SYSTEM DISEASES; RESEARCH REPORT;

EID: 84555204803     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-011-0287-4     Document Type: Article

References (10)

1. Cotton RG, Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, Claustres M, Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima S, de Ramirez HZ, Scriver CR, Sherry S, Shimizu N, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M (2007) Recommendations of the 2006 Human Variome Project Meeting. Nat Genet 39:433-436 (Pubitemid 46514785)
2. Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blöcker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Díaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Möslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Töpel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS, Contributors to the Human Variome Project Planning Meeting (2009) Planning the Human Variome Project: the Spain Report. Hum Mutat 30:496-510
3. Cotton RG, Al Aqeel AI, Al-Mulla F, Carrera P, Claustres M, Ekong R, Hyland VJ, Macrae FA, Marafie MJ, Paalman MH, Patrinos GP, Qi M, Ramesar RS, Scott RJ, Sijmons RH, Sobrido MJ, Vihinen M, members of the Human Variome Project (2010) Data Collection from Clinics, Data Collection from Laboratories and Publication, Credit and Incentives Working Groups. Capturing all disease causing mutations for clinical and research use: towards an effortless system for the Human Variome Project. Genet Med 11:843-849
4. Cotton RG, Auerbach AD, Axton M, Barash CI, Berkovic SF, Brookes AJ, Burn J, Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M, Macrae FA, Maglott D, Möslein G, Povey S, Ramesar RS, Richards CS, Seminara D, Smith TD, Sobrido MJ, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsunomiya J, Watson M (2008) GENETICS. The Human Variome Project. Science 322:861-862
5. Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C (2010) Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat 31:763-780
6. Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE (2007) Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nat Genet 39:17-23 (Pubitemid 46026496)
7. Lill CM, McQueen MB, Roehr JT, Schjeide BMM, Zauft U, Bagade S, Zipp F, Bertram L. Schjeide BMM, McQueen MB, Bertram L (2010) The MSGene Database Systematic Meta-Analyses and Field Synopsis of Genetic Association Studies in Multiple Sclerosis Slide presentation at the 62nd Annual Meeting of the American Academy of Neurology, Toronto, Canada [S30.003]
8. Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M (2009) Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat 30:934-945
9. Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S (2008) The Human Phenotype Ontology: a tool for annotating and analyzing humanhereditary disease. Am J Hum Genet 83:610-615
10. Salas A, Carracedo A, Macaulay V, Richards M, Bandelt HJ (2005) A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics. Biochem Biophys Res Commun 335:891-899 (Pubitemid 41199819)