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There are 8780 results for: content related to: Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

  1. An MLPA-Based Strategy for Discrete CNV Genotyping: CNV-miRNAs as an Example

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 763–773, Malgorzata Marcinkowska-Swojak, Barbara Uszczynska, Marek Figlerowicz and Piotr Kozlowski

    Version of Record online : 8 MAR 2013, DOI: 10.1002/humu.22288

  2. Complex Copy Number Variation of AMY1 does not Associate with Obesity in two East Asian Cohorts

    Human Mutation

    Volume 37, Issue 7, July 2016, Pages: 669–678, Rita Y.Y. Yong, Su'Aidah B. Mustaffa, Pavandip S. Wasan, Liang Sheng, Christian R. Marshall, Stephen W. Scherer, Yik-Ying Teo and Eric P.H. Yap

    Version of Record online : 28 APR 2016, DOI: 10.1002/humu.22996

  3. You have free access to this content
    Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

    Human Mutation

    Volume 37, Issue 3, March 2016, Pages: 231–234, Ian M. Campbell, Tomasz Gambin, Shalini N. Jhangiani, Megan L. Grove, Narayanan Veeraraghavan, Donna M. Muzny, Chad A. Shaw, Richard A. Gibbs, Eric Boerwinkle, Fuli Yu and James R. Lupski

    Version of Record online : 31 DEC 2015, DOI: 10.1002/humu.22944

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    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

  5. FAS Gene Copy Numbers are Associated with Susceptibility to Behçet Disease and VKH Syndrome in Han Chinese

    Human Mutation

    Volume 36, Issue 11, November 2015, Pages: 1064–1069, Hongsong Yu, Le Luo, Lili Wu, Minming Zheng, Lijun Zhang, Yunjia Liu, Hua Li, Qingfeng Cao, Aize Kijlstra and Peizeng Yang

    Version of Record online : 3 AUG 2015, DOI: 10.1002/humu.22829

  6. 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

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    How the TP53 Family Proteins TP63 and TP73 Contribute to Tumorigenesis: Regulators and Effectors

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 702–714, Eleonora Candi, Massimiliano Agostini, Gerry Melino and Francesca Bernassola

    Version of Record online : 7 MAR 2014, DOI: 10.1002/humu.22523

  8. Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 345–354, Andy Wing Chun Pang, Ohsuke Migita, Jeffrey R. MacDonald, Lars Feuk and Stephen W. Scherer

    Version of Record online : 19 NOV 2012, DOI: 10.1002/humu.22240

  9. Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 741–749, James I. Robinson, Ian M. Carr, Dawn L. Cooper, Lubna H. Rashid, Stephen G. Martin, Paul Emery, John D. Isaacs, Anne Barton, BRAGGSS, Anthony G. Wilson, Jennifer H Barrett and Ann W. Morgan

    Version of Record online : 28 FEB 2012, DOI: 10.1002/humu.22031

  10. Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 151–164, Lucia Guidugli, Aura Carreira, Sandrine M. Caputo, Asa Ehlen, Alvaro Galli, Alvaro N.A. Monteiro, Susan L. Neuhausen, Thomas V.O. Hansen, Fergus J. Couch, Maaike P.G. Vreeswijk and ; on behalf of the ENIGMA consortium

    Version of Record online : 3 DEC 2013, DOI: 10.1002/humu.22478

  11. You have full text access to this OnlineOpen article
    Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 57–65, Hashem A. Shihab, Julian Gough, David N. Cooper, Peter D. Stenson, Gary L. A. Barker, Keith J. Edwards, Ian N. M. Day and Tom R. Gaunt

    Version of Record online : 2 NOV 2012, DOI: 10.1002/humu.22225

  12. Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations

    Human Mutation

    Volume 37, Issue 7, July 2016, Pages: 640–652, Natasha G. Caminsky, Eliseos J. Mucaki, Ami M. Perri, Ruipeng Lu, Joan H. M. Knoll and Peter K. Rogan

    Version of Record online : 18 MAR 2016, DOI: 10.1002/humu.22972

  13. You have full text access to this OnlineOpen article
    Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 525–537, Alessandro Romano, Alessandra Tessa, Amilcare Barca, Fabiana Fattori, Maria Fulvia de Leva, Alessandra Terracciano, Carlo Storelli, Filippo Maria Santorelli and Tiziano Verri

    Version of Record online : 18 FEB 2013, DOI: 10.1002/humu.22269

  14. Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1215–1225, Carina Rodrigues, Alice Santos-Silva, Elísio Costa and Elsa Bronze-da-Rocha

    Version of Record online : 5 OCT 2015, DOI: 10.1002/humu.22903

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

    Human Mutation

    Volume 36, Issue 5, May 2015, Pages: 524–534, Marharyta Petukh, Tugba G. Kucukkal and Emil Alexov

    Version of Record online : 6 APR 2015, DOI: 10.1002/humu.22770

  16. Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 774–786, Fabienne C. Fiesel, Thomas R. Caulfield, Elisabeth L. Moussaud-Lamodière, Kotaro Ogaki, Daniel F.A.R. Dourado, Samuel C. Flores, Owen A. Ross and Wolfdieter Springer

    Version of Record online : 3 JUN 2015, DOI: 10.1002/humu.22808

  17. You have full text access to this OnlineOpen article
    Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novoSCN1A Mutations in Children with Dravet Syndrome

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 861–872, Xiaojing Xu, Xiaoxu Yang, Qixi Wu, Aijie Liu, Xiaoling Yang, Adam Yongxin Ye, August Yue Huang, Jiarui Li, Meng Wang, Zhe Yu, Sheng Wang, Zhichao Zhang, Xiru Wu, Liping Wei and Yuehua Zhang

    Version of Record online : 24 JUL 2015, DOI: 10.1002/humu.22819

  18. 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

    Version of Record online : 17 JUL 2014, DOI: 10.1002/humu.22602

  19. Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1418–1426, Vilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A. Sandaradura, Jocelyn Laporte, Pauliina Repo, Jennifer A. Frey, Kati Donner, Minttu Marttila, Carol Saunders, Peter G. Barth, Johan T. den Dunnen, Alan H. Beggs, Nigel F. Clarke, Kathryn N. North, Nigel G. Laing, Norma B. Romero, Thomas L. Winder, Katarina Pelin and Carina Wallgren-Pettersson

    Version of Record online : 24 NOV 2014, DOI: 10.1002/humu.22693

  20. Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1249–1259, Neeraj Sharma, Patrick R. Sosnay, Anabela S. Ramalho, Christopher Douville, Arianna Franca, Laura B. Gottschalk, Jeenah Park, Melissa Lee, Briana Vecchio-Pagan, Karen S. Raraigh, Margarida D. Amaral, Rachel Karchin and Garry R. Cutting

    Version of Record online : 10 SEP 2014, DOI: 10.1002/humu.22624