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There are 991 results for: content related to: GE nomes M anagement A pplication ( GEM .app): A New Software Tool for Large-Scale Collaborative Genome Analysis

  1. On Human Disease-Causing Amino Acid Variants: Statistical Study of Sequence and Structural Patterns

    Human Mutation

    Marharyta Petukh, Tugba G. Kucukkal and Emil Alexov

    Article first published online : 6 APR 2015, DOI: 10.1002/humu.22770

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    Biochemical and Cellular Analysis of Human Variants of the DYT1 Dystonia Protein, TorsinA/TOR1A

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1101–1113, Jasmin Hettich, Scott D. Ryan, Osmar Norberto de Souza, Luís Fernando Saraiva Macedo Timmers, Shelun Tsai, Nadia A. Atai, Cintia C. da Hora, Xuan Zhang, Rashmi Kothary, Erik Snapp, Maria Ericsson, Kathrin Grundmann, Xandra O. Breakefield and Flávia C. Nery

    Article first published online : 17 JUL 2014, DOI: 10.1002/humu.22602

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    Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 766–778, Thierry Soussi, Bernard Leroy and Peter E.M. Taschner

    Article first published online : 6 MAY 2014, DOI: 10.1002/humu.22561

  4. Mutation Update for GNE Gene Variants Associated with GNE Myopathy

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 915–926, Frank V. Celeste, Thierry Vilboux, Carla Ciccone, John Karl de Dios, May Christine V. Malicdan, Petcharat Leoyklang, John C. McKew, William A. Gahl, Nuria Carrillo-Carrasco and Marjan Huizing

    Article first published online : 17 JUL 2014, DOI: 10.1002/humu.22583

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    Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1495–1505, Anne Gregor, Jamie M. Kramer, Monique van der Voet, Ina Schanze, Steffen Uebe, Rogier Donders, André Reis, Annette Schenck and Christiane Zweier

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22697

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    TP53 Mutants in the Tower of Babel of Cancer Progression

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 689–701, Alessandra Bisio, Yari Ciribilli, Gilberto Fronza, Alberto Inga and Paola Monti

    Article first published online : 14 MAR 2014, DOI: 10.1002/humu.22514

  7. An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1597–1605, K. Joeri van der Velde, Herschel S. Dhekne, Morris A. Swertz, Serena Sirigu, Virginie Ropars, Petra C. Vinke, Trebor Rengaw, Peter C. van den Akker, Edmond H. H. M. Rings, Anne Houdusse and Sven C. D. van Ijzendoorn

    Article first published online : 16 OCT 2013, DOI: 10.1002/humu.22440

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    Integrating Massively Parallel Sequencing into Diagnostic Workflows and Managing the Annotation and Clinical Interpretation Challenge

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 413–423, Karin S. Kassahn, Hamish S. Scott and Melody C. Caramins

    Article first published online : 6 MAR 2014, DOI: 10.1002/humu.22525

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    Insights into Wild-Type and Mutant p53 Functions Provided by Genetically Engineered Mice

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 715–727, Lawrence A. Donehower

    Article first published online : 5 FEB 2014, DOI: 10.1002/humu.22507

  10. Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 215–226, Kathrin Bengesser, Julia Vogt, Tanja Mussotter, Victor-Felix Mautner, Ludwine Messiaen, David N. Cooper and Hildegard Kehrer-Sawatzki

    Article first published online : 2 DEC 2013, DOI: 10.1002/humu.22473

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    Online Biomedical Resources for Malaria-Related Red Cell Disorders

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 937–944, Frédéric B. Piel, Rosalind E. Howes, Oscar A. Nyangiri, Catherine L. Moyes, Thomas N. Williams, David J. Weatherall and Simon I. Hay

    Article first published online : 8 MAY 2013, DOI: 10.1002/humu.22330

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    Locus-Specific Databases in Cancer: What Future in a Post-Genomic Era? The TP53 LSDB paradigm

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 643–653, Thierry Soussi

    Article first published online : 5 MAR 2014, DOI: 10.1002/humu.22518

  13. Long-Standing Balancing Selection in the THBS4 Gene: Influence on Sex-Specific Brain Expression and Gray Matter Volumes in Alzheimer Disease

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 743–753, Rachele Cagliani, Franca R. Guerini, Raquel Rubio-Acero, Francesca Baglio, Diego Forni, Cristina Agliardi, Ludovica Griffanti, Matteo Fumagalli, Uberto Pozzoli, Stefania Riva, Elena Calabrese, Martin Sikora, Ferran Casals, Giacomo P. Comi, Nereo Bresolin, Mario Cáceres, Mario Clerici and Manuela Sironi

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22301

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    Patterns and Mutational Signatures of Tandem Base Substitutions Causing Human Inherited Disease

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1119–1130, Jian-Min Chen, Claude Férec and David N. Cooper

    Article first published online : 20 MAY 2013, DOI: 10.1002/humu.22341

  15. Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 15–26, Celeste Bento, Melanie J. Percy, Betty Gardie, Tabita Magalhães Maia, Richard van Wijk, Silverio Perrotta, Fulvio Della Ragione, Helena Almeida, Cedric Rossi, François Girodon, Maria Åström, Drorit Neumann, Susanne Schnittger, Britta Landin, Milen Minkov, Maria Luigia Randi, Stéphane Richard, Nicole Casadevall, William Vainchenker, Susana Rives, Sylvie Hermouet, M. Leticia Ribeiro, Mary Frances McMullin, Holger Cario, on behalf of ECE-Consortium, Aurelie Chauveau, Anne-Paule Gimenez-Roqueplo, Brigitte Bressac-de-Paillerets, Didem Altindirek, Felipe Lorenzo, Frederic Lambert, Harlev Dan, Sophie Gad-Lapiteau, Ana Catarina Oliveira, Cédric Rossi, Cristina Fraga, Gennadiy Taradin, Guillermo Martin-Nuñez, Helena Vitória, Herrera Diaz Aguado, Jan Palmblad, Julia Vidán, Luis Relvas, Maria Leticia Ribeiro, Maria Luigi Larocca, Maria Luigia Randi, Maria Pedro Silveira, Melanie Percy, Mor Gross, Ricardo Marques da Costa, Soheir Beshara, Tal Ben-Ami and Valérie Ugo

    Article first published online : 22 OCT 2013, DOI: 10.1002/humu.22448

  16. A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 200–209, Bryony A. Thompson, David E. Goldgar, Carol Paterson, Mark Clendenning, Rhiannon Walters, Sven Arnold, Michael T. Parsons, Walsh Michael D., Steven Gallinger, Robert W. Haile, John L. Hopper, Mark A. Jenkins, Loic LeMarchand, Noralane M. Lindor, Polly A. Newcomb, Stephen N. Thibodeau, Colon Cancer Family Registry, Joanne P. Young, Daniel D. Buchanan, Sean V. Tavtigian and Amanda B. Spurdle

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22213

  17. Transduction-Specific ATLAS Reveals a Cohort of Highly Active L1 Retrotransposons in Human Populations

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 974–985, Catriona M. Macfarlane, Pamela Collier, Raheleh Rahbari, Christine R. Beck, John F. Wagstaff, Samantha Igoe, John V. Moran and Richard M. Badge

    Article first published online : 23 APR 2013, DOI: 10.1002/humu.22327

  18. Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 1–13, Stuart Cantsilieris and Stefan J. White

    Article first published online : 23 AUG 2012, DOI: 10.1002/humu.22172

  19. Inverted Low-Copy Repeats and Genome Instability—A Genome-Wide Analysis

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 210–220, Piotr Dittwald, Tomasz Gambin, Claudia Gonzaga-Jauregui, Claudia M.B. Carvalho, James R. Lupski, Paweł Stankiewicz and Anna Gambin

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22217

  20. Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 669–685, Kevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, Sarah E. Flanagan and Sian Ellard

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22279