Search Results

There are 21593 results for: content related to: Identification of Functional cis -regulatory Polymorphisms in the Human Genome

  1. You have free access to this content
    Variation Interpretation Predictors: Principles, Types, Performance, and Choice

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 579–597, Abhishek Niroula and Mauno Vihinen

    Version of Record online : 15 APR 2016, DOI: 10.1002/humu.22987

  2. Noncoding RNA: Current Deep Sequencing Data Analysis Approaches and Challenges

    Human Mutation

    Volume 37, Issue 12, December 2016, Pages: 1283–1298, Dario Veneziano, Sebastiano Di Bella, Giovanni Nigita, Alessandro Laganà, Afredo Ferro and Carlo M. Croce

    Version of Record online : 5 SEP 2016, DOI: 10.1002/humu.23066

  3. 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

    Version of Record online : 17 JUL 2014, DOI: 10.1002/humu.22583

  4. You have free access to this content
    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

    Version of Record online : 14 MAR 2014, DOI: 10.1002/humu.22514

  5. 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

    Version of Record online : 2 APR 2013, DOI: 10.1002/humu.22301

  6. 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

    Version of Record online : 23 AUG 2012, DOI: 10.1002/humu.22172

  7. Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome

    Human Mutation

    Volume 37, Issue 5, May 2016, Pages: 417–426, Qing Liu, Bryony A. Thompson, Robyn L. Ward, Luke B. Hesson and Mathew A. Sloane

    Version of Record online : 18 MAR 2016, DOI: 10.1002/humu.22971

  8. You have full text access to this OnlineOpen article
    Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma

    Human Mutation

    Luís Cardoso, Mark Stevenson and Rajesh V. Thakker

    Version of Record online : 25 SEP 2017, DOI: 10.1002/humu.23337

  9. 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

    Version of Record online : 2 APR 2013, DOI: 10.1002/humu.22279

  10. Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey–Hailey Disease

    Human Mutation

    Volume 38, Issue 4, April 2017, Pages: 343–356, Ruud G.L. Nellen, Peter M. Steijlen, Maurice A.M. van Steensel, Maaike Vreeburg, European Professional Contributors, Jorge Frank and Michel van Geel

    Version of Record online : 15 FEB 2017, DOI: 10.1002/humu.23164

  11. Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element

    Human Mutation

    Volume 36, Issue 5, May 2015, Pages: 504–512, Andrea Dal Mas, Paola Fortugno, Irving Donadon, Lauretta Levati, Daniele Castiglia and Franco Pagani

    Version of Record online : 19 MAR 2015, DOI: 10.1002/humu.22762

  12. You have free access to this content
    The Mdm Network and Its Regulation of p53 Activities: A Rheostat of Cancer Risk

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 728–737, Christine M. Eischen and Guillermina Lozano

    Version of Record online : 6 MAR 2014, DOI: 10.1002/humu.22524

  13. You have free access to this content
    Mutant TP53 Posttranslational Modifications: Challenges and Opportunities

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 738–755, Thuy-Ai Nguyen, Daniel Menendez, Michael A. Resnick and Carl W. Anderson

    Version of Record online : 11 FEB 2014, DOI: 10.1002/humu.22506

  14. TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 812–826, Serena Lattante, Guy A. Rouleau and Edor Kabashi

    Version of Record online : 29 APR 2013, DOI: 10.1002/humu.22319

  15. Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

    Human Mutation

    Volume 37, Issue 5, May 2016, Pages: 427–438, D. Sean Froese, Martina Huemer, Terttu Suormala, Patricie Burda, David Coelho, Jean-Louis Guéant, Markus A. Landolt, Viktor Kožich, Brian Fowler and Matthias R. Baumgartner

    Version of Record online : 18 MAR 2016, DOI: 10.1002/humu.22970

  16. Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

    Human Mutation

    Volume 37, Issue 10, October 2016, Pages: 991–1003, Atteeq U. Rehman, Jonathan E. Bird, Rabia Faridi, Mohsin Shahzad, Sujay Shah, Kwanghyuk Lee, Shaheen N. Khan, Ayesha Imtiaz, Zubair M. Ahmed, Saima Riazuddin, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin and Thomas B. Friedman

    Version of Record online : 21 AUG 2016, DOI: 10.1002/humu.23042

  17. A Rising Titan: TTN Review and Mutation Update

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1046–1059, Claire Chauveau, John Rowell and Ana Ferreiro

    Version of Record online : 21 JUL 2014, DOI: 10.1002/humu.22611

  18. Elucidating Common Structural Features of Human Pathogenic Variations Using Large-Scale Atomic-Resolution Protein Networks

    Human Mutation

    Volume 35, Issue 5, May 2014, Pages: 585–593, Jishnu Das, Hao Ran Lee, Adithya Sagar, Robert Fragoza, Jin Liang, Xiaomu Wei, Xiujuan Wang, Matthew Mort, Peter D. Stenson, David N. Cooper and Haiyuan Yu

    Version of Record online : 7 APR 2014, DOI: 10.1002/humu.22534

  19. Analysis of Sequence Variation Underlying Tissue-specific Transcription Factor Binding and Gene Expression

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1140–1148, Karen M. Lower, Marco De Gobbi, Jim R. Hughes, Christopher J. Derry, Helena Ayyub, Jacqueline A. Sloane-Stanley, Douglas Vernimmen, David Garrick, Richard J. Gibbons and Douglas R. Higgs

    Version of Record online : 18 JUN 2013, DOI: 10.1002/humu.22343

  20. You have full text access to this OnlineOpen article
    RNAsnp: Efficient Detection of Local RNA Secondary Structure Changes Induced by SNPs

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 546–556, Radhakrishnan Sabarinathan, Hakim Tafer, Stefan E. Seemann, Ivo L. Hofacker, Peter F. Stadler and Jan Gorodkin

    Version of Record online : 20 MAR 2013, DOI: 10.1002/humu.22273

    Corrected by:

    Erratum: RNAsnp: Efficient Detection of Local RNA Secondary Structure Changes Induced by SNPs

    Vol. 34, Issue 6, 925, Version of Record online: 9 APR 2013