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There are 2638901 results for: content related to: Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration

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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

    Article first published online : 9 DEC 2011, DOI: 10.1002/humu.21646

  2. LOVD: Easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach

    Human Mutation

    Volume 26, Issue 2, August 2005, Pages: 63–68, Ivo F.A.C. Fokkema, Johan T. den Dunnen and Peter E.M. Taschner

    Article first published online : 23 JUN 2005, DOI: 10.1002/humu.20201

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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

    Article first published online : 2 JUL 2012, DOI: 10.1002/humu.22118

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    Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 22–28, Maxime P. Vallée, Tiana C. Francy, Megan K. Judkins, Davit Babikyan, Fabienne Lesueur, Amanda Gammon, David E. Goldgar, Fergus J. Couch and Sean V. Tavtigian

    Article first published online : 3 NOV 2011, DOI: 10.1002/humu.21629

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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

    Article first published online : 3 NOV 2011, DOI: 10.1002/humu.21626

  6. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 8–21, Noralane M. Lindor, Lucia Guidugli, Xianshu Wang, Maxime P. Vallée, Alvaro N. A. Monteiro, Sean Tavtigian, David E. Goldgar and Fergus J. Couch

    Article first published online : 3 NOV 2011, DOI: 10.1002/humu.21627

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    Errata: A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

    Vol. 33, Issue 5, 900–903, Article first published online: 13 APR 2012

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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

    Article first published online : 22 FEB 2011, DOI: 10.1002/humu.21438

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    Mutation update for the PORCN gene

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 723–728, Maria Paola Lombardi, Saskia Bulk, Jacopo Celli, Anne Lampe, Michael T. Gabbett, Lillian Bomme Ousager, Jasper J. van der Smagt, Maria Soller, Eva-Lena Stattin, Marcel A.M.M. Mannens, Robert Smigiel and Raoul C. Hennekam

    Article first published online : 21 JUN 2011, DOI: 10.1002/humu.21505

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    Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

    Human Mutation

    Volume 32, Issue 4, April 2011, Pages: 424–435, Marianne Hoogeveen-Westerveld, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T. den Dunnen, Kay Metcalfe, Stephanie Vallee, Stefan Krueger, JoAnn Bergoffen, Vandana Shashi, Frances Elmslie, David Kwiatkowski, Julian Sampson, Concha Vidales, Jacinta Dzarir, Javier Garcia-Planells, Kira Dies, Anneke Maat-Kievit, Ans van den Ouweland, Dicky Halley and Mark Nellist

    Article first published online : 8 MAR 2011, DOI: 10.1002/humu.21451

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    Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci

    Human Mutation

    Volume 33, Issue 10, October 2012, Pages: E2367–E2374, Deeksha Bhartiya, Jatin Talwar, Yasha Hasija and Vinod Scaria

    Article first published online : 6 JUL 2012, DOI: 10.1002/humu.22158

  11. The COL7A1 mutation database

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 327–331, Katarzyna Wertheim-Tysarowska, Agnieszka Sobczyńska-Tomaszewska, Cezary Kowalewski, Michał Skroński, Grzegorz Święćkowski, Anna Kutkowska-Kaźmierczak, Katarzyna Woźniak and Jerzy Bal

    Article first published online : 20 DEC 2011, DOI: 10.1002/humu.21651

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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

    Article first published online : 7 APR 2011, DOI: 10.1002/humu.21499

  13. Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1335–1340, Min Pan, Peikuan Cong, Yue Wang, Changsong Lin, Ying Yuan, Jian Dong, Santasree Banerjee, Tao Zhang, Yanling Chen, Ting Zhang, Mingqing Chen, Peter Hu, Shu Zheng, Jin Zhang and Ming Qi

    Article first published online : 20 OCT 2011, DOI: 10.1002/humu.21588

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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

    Article first published online : 2 JUL 2012, DOI: 10.1002/humu.22132

  15. Rational improvement of simvastatin synthase solubility in Escherichia coli leads to higher whole-cell biocatalytic activity

    Biotechnology and Bioengineering

    Volume 102, Issue 1, 1 January 2009, Pages: 20–28, Xinkai Xie, Inna Pashkov, Xue Gao, Jennifer L. Guerrero, Todd O. Yeates and Yi Tang

    Article first published online : 18 JUN 2008, DOI: 10.1002/bit.22028

  16. Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1460–1469, Gabriella Esposito, Francesca De Falco, Nadia Tinto, Francesco Testa, Luigi Vitagliano, Igor Cristian Maria Tandurella, Lucio Iannone, Settimio Rossi, Ernesto Rinaldi, Francesca Simonelli, Adriana Zagari and Francesco Salvatore

    Article first published online : 11 OCT 2011, DOI: 10.1002/humu.21591

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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

    Article first published online : 20 JAN 2009, DOI: 10.1002/humu.20972

  18. An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 417–429, Zeynep Tümer

    Article first published online : 18 FEB 2013, DOI: 10.1002/humu.22266

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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

    Article first published online : 23 JUL 2012, DOI: 10.1002/humu.22144

  20. Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

    Human Mutation

    Volume 33, Issue 12, December 2012, Pages: 1656–1664, Holly Smith, Romain Galmes, Ekaterina Gogolina, Anna Straatman-Iwanowska, Kim Reay, Blerida Banushi, Christopher K. Bruce, Andrew R. Cullinane, Rene Romero, Richard Chang, Oanez Ackermann, Clarisse Baumann, Hakan Cangul, Fatma Cakmak Celik, Canan Aygun, Richard Coward, Carlo Dionisi-Vici, Barbara Sibbles, Carol Inward, Chong Ae Kim, Judith Klumperman, A. S. Knisely, Steven P. Watson and Paul Gissen

    Article first published online : 6 AUG 2012, DOI: 10.1002/humu.22155

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