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There are 2228009 results for: content related to: Disease-specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011

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    Human variome project country nodes: Documenting genetic information within a country

    Human Mutation

    Volume 33, Issue 11, November 2012, Pages: 1513–1519, George P. Patrinos, Timothy D. Smith, Heather Howard, Fahd Al-Mulla, Lotfi Chouchane, Andreas Hadjisavvas, Sherifa A. Hamed, Xi-Tao Li, Makia Marafie, Rajkumar S. Ramesar, Feliciano J. Ramos, Thomy de Ravel, Mona O. El-Ruby, Tilak Ram Shrestha, María-Jesús Sobrido, Ghazi Tadmouri, Martina Witsch-Baumgartner, Bin Alwi Zilfalil, Arleen D. Auerbach, Kevin Carpenter, Garry R. Cutting, Vu Chi Dung, Wayne Grody, Julia Hasler, Lynn Jorde, Jim Kaput, Milan Macek, Yoichi Matsubara, Carmancita Padilla, Helen Robinson, Augusto Rojas-Martinez, Graham R. Taylor, Mauno Vihinen, Tom Weber, John Burn, Ming Qi, Richard G. H. Cotton, David Rimoin and (International Confederation of Countries Advisory Council)

    Version of Record online : 18 JUL 2012, DOI: 10.1002/humu.22147

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    Guidelines for establishing locus specific databases

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 298–305, Mauno Vihinen, Johan T. den Dunnen, Raymond Dalgleish and Richard G. H. Cotton

    Version of Record online : 9 DEC 2011, DOI: 10.1002/humu.21646

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    WAVe: web analysis of the variome

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 729–734, Pedro Lopes, Raymond Dalgleish and José Luís Oliveira

    Version of Record online : 7 APR 2011, DOI: 10.1002/humu.21499

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    Planning the Human Variome Project: The Spain report

    Human Mutation

    Volume 30, Issue 4, April 2009, Pages: 496–510, 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 and Hyang-Sook Yoo

    Version of Record online : 20 JAN 2009, DOI: 10.1002/humu.20972

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    Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain

    Human Mutation

    Volume 33, Issue 11, November 2012, Pages: 1503–1512, George P. Patrinos, David N. Cooper, Erik van Mulligen, Vassiliki Gkantouna, Giannis Tzimas, Zuotian Tatum, Erik Schultes, Marco Roos and Barend Mons

    Version of Record online : 23 JUL 2012, DOI: 10.1002/humu.22144

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    Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

    Human Mutation

    Volume 29, Issue 11, November 2008, Pages: 1273–1281, Marc S. Greenblatt, Lawrence C. Brody, William D. Foulkes, Maurizio Genuardi, Robert M.W. Hofstra, Magali Olivier, Sharon E. Plon, Rolf H. Sijmons, Olga Sinilnikova and Amanda B. Spurdle

    Version of Record online : 24 OCT 2008, DOI: 10.1002/humu.20889

  7. You have full text access to this OnlineOpen article
    Initiating a Human Variome Project Country Node

    Human Mutation

    Volume 32, Issue 5, May 2011, Pages: 501–506, Jumana AlAama, Timothy D. Smith, Alan Lo, Heather Howard, Alexandria A. Kline, Matthew Lange, Jim Kaput and Richard G.H. Cotton

    Version of Record online : 29 MAR 2011, DOI: 10.1002/humu.21463

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    How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

    Human Mutation

    Volume 31, Issue 12, December 2010, Pages: 1374–1381, Maija R.J. Kohonen-Corish, Jumana Y. Al-Aama, Arleen D. Auerbach, Myles Axton, Carol Isaacson Barash, Inge Bernstein, Christophe Béroud, John Burn, Fiona Cunningham, Garry R. Cutting, Johan T. den Dunnen, Marc S. Greenblatt, Jim Kaput, Michael Katz, Annika Lindblom, Finlay Macrae, Donna Maglott, Gabriela Möslein, Sue Povey, Raj Ramesar, Sue Richards, Daniela Seminara, María-Jesús Sobrido, Sean Tavtigian, Graham Taylor, Mauno Vihinen, Ingrid Winship, Richard G.H. Cotton and on behalf of contributors to the Human Variome Project Meeting

    Version of Record online : 22 NOV 2010, DOI: 10.1002/humu.21379

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    Sharing data between LSDBs and central repositories

    Human Mutation

    Volume 30, Issue 4, April 2009, Pages: 493–495, Johan T. den Dunnen, Rolf H. Sijmons, Paal S. Andersen, Mauno Vihinen, Jacques S. Beckmann, Sandro Rossetti, C. Conover Talbot Jr, Ross C. Hardison, Sue Povey and Richard G.H. Cotton

    Version of Record online : 20 JAN 2009, DOI: 10.1002/humu.20977

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    The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

    Human Mutation

    Volume 33, Issue 9, September 2012, Pages: 1324–1332, Joshua Hersheson, Andrea Haworth and Henry Houlden

    Version of Record online : 2 JUL 2012, DOI: 10.1002/humu.22132

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    Toward a mtDNA locus-specific mutation database using the LOVD platform

    Human Mutation

    Volume 33, Issue 9, September 2012, Pages: 1352–1358, Joanna L. Elson, Mary G. Sweeney, Vincent Procaccio, John W. Yarham, Antonio Salas, Qing-Peng Kong, Francois H. van der Westhuizen, Robert D.S. Pitceathly, David R. Thorburn, Marie T. Lott, Douglas C. Wallace, Robert W. Taylor and Robert McFarland

    Version of Record online : 2 JUL 2012, DOI: 10.1002/humu.22118

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    Databases for neurogenetics: Introduction, overview, and challenges

    Human Mutation

    Volume 33, Issue 9, September 2012, Pages: 1311–1314, María-Jesús Sobrido, Pilar Cacheiro, Ángel Carracedo and Lars Bertram

    Version of Record online : 13 AUG 2012, DOI: 10.1002/humu.22164

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    Deciphering the colon cancer genes—report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

    Human Mutation

    Volume 32, Issue 4, April 2011, Pages: 491–494, Maija R.J. Kohonen-Corish, Finlay Macrae, Maurizio Genuardi, Stefan Aretz, Bharati Bapat, Inge T. Bernstein, John Burn, Richard G.H. Cotton, Johan T. den Dunnen, Thierry Frebourg, Marc S. Greenblatt, Robert Hofstra, Elke Holinski-Feder, Ilkka Lappalainen, Annika Lindblom, Donna Maglott, Pål Møller, Hans Morreau, Gabriela Möslein, Rolf Sijmons, Amanda B. Spurdle, Sean Tavtigian, Carli M.J. Tops, Thomas K. Weber, Niels de Wind, Michael O. Woods and on behalf of Contributors to the InSiGHT-HVP Workshop

    Version of Record online : 8 MAR 2011, DOI: 10.1002/humu.21450

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    Curating gene variant databases (LSDBs): Toward a universal standard

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 291–297, Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, Peter E.M. Taschner and Johan T. den Dunnen

    Version of Record online : 3 NOV 2011, DOI: 10.1002/humu.21626

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    Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use

    Human Mutation

    Volume 31, Issue 10, October 2010, Pages: 1109–1116, Christina Mitropoulou, Adam J. Webb, Konstantinos Mitropoulos, Anthony J. Brookes and George P. Patrinos

    Version of Record online : 7 SEP 2010, DOI: 10.1002/humu.21332

  16. Variobox: Automatic Detection and Annotation of Human Genetic Variants

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 202–207, Paulo Gaspar, Pedro Lopes, Jorge Oliveira, Rosário Santos, Raymond Dalgleish and José Luís Oliveira

    Version of Record online : 21 NOV 2013, DOI: 10.1002/humu.22474

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    Infectious Enthusiasm! Larger than Life! That Laugh! That Smile! In Loving Memory of Richard G.H. (Dick) Cotton

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 598–615,

    Version of Record online : 26 APR 2016, DOI: 10.1002/humu.22990

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    Human Variome Project Quality Assessment Criteria for Variation Databases

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 549–558, Mauno Vihinen, John M. Hancock, Donna R. Maglott, Melissa J. Landrum, Gerard C. P. Schaafsma and Peter Taschner

    Version of Record online : 21 MAR 2016, DOI: 10.1002/humu.22976

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    LOVD v.2.0: the next generation in gene variant databases

    Human Mutation

    Volume 32, Issue 5, May 2011, Pages: 557–563, Ivo F. A. C. Fokkema, Peter E. M. Taschner, Gerard C. P. Schaafsma, J. Celli, Jeroen F. J. Laros and Johan T. den Dunnen

    Version of Record online : 22 FEB 2011, DOI: 10.1002/humu.21438

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    Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

    Human Mutation

    Volume 31, Issue 11, November 2010, Pages: 1179–1184, Sue Povey, Aida I. Al Aqeel, Anne Cambon-Thomsen, Raymond Dalgleish, Johan T. den Dunnen, Helen V. Firth, Marc S. Greenblatt, Carol Isaacson Barash, Michael Parker, George P. Patrinos, Judith Savige, Maria-Jesus Sobrido, Ingrid Winship and Richard G.H. Cotton

    Version of Record online : 28 OCT 2010, DOI: 10.1002/humu.21339