Search Results

There are 1343 results for: content related to: Guidelines for Reporting and Using Prediction Tools for Genetic Variation Analysis

  1. Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1532–1541, Virginie Kergourlay, Ghadi Raï, Gaëlle Blandin, David Salgado, Christophe Béroud, Nicolas Lévy, Martin Krahn and Marc Bartoli

    Version of Record online : 24 NOV 2014, DOI: 10.1002/humu.22710

  2. 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

  3. You have full text access to this OnlineOpen article
    Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants

    Human Mutation

    Volume 35, Issue 11, November 2014, Pages: 1354–1362, Jessica C. Gardner, Gerald Liew, Ying-Hua Quan, Burcu Ermetal, Hisao Ueyama, Alice E. Davidson, Nele Schwarz, Naheed Kanuga, Ravinder Chana, Eamonn R. Maher, Andrew R. Webster, Graham E. Holder, Anthony G. Robson, Michael E. Cheetham, Jan Liebelt, Jonathan B. Ruddle, Anthony T. Moore, Michel Michaelides and Alison J. Hardcastle

    Version of Record online : 28 OCT 2014, DOI: 10.1002/humu.22679

  4. You have free access to this content
    GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 1009–1014, P. Y. Billie Au, Jing You, Oana Caluseriu, Jeremy Schwartzentruber, Jacek Majewski, Francois P. Bernier, Marcia Ferguson, David Valle, Jillian S. Parboosingh, Nara Sobreira, A. Micheil Innes and Antonie D. Kline

    Version of Record online : 6 AUG 2015, DOI: 10.1002/humu.22837

  5. Type I Procollagen C-Propeptide Defects: Study of Genotype–Phenotype Correlation and Predictive Role of Crystal Structure

    Human Mutation

    Volume 35, Issue 11, November 2014, Pages: 1330–1341, Sofie Symoens, David J.S. Hulmes, Jean-Marie Bourhis, Paul J. Coucke, Anne De Paepe and Fransiska Malfait

    Version of Record online : 18 OCT 2014, DOI: 10.1002/humu.22677

  6. 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

  7. 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

    Version of Record online : 22 OCT 2013, DOI: 10.1002/humu.22448

  8. You have free access to this content
    Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients

    Human Mutation

    Volume 37, Issue 1, January 2016, Pages: 74–83, Rebeca Vindas-Smith, Michele Fiore, Melissa Vásquez, Patricia Cuenca, Gerardo del Valle, Laura Lagostena, Héctor Gaitán-Peñas, Raúl Estevez, Michael Pusch and Fernando Morales

    Version of Record online : 28 OCT 2015, DOI: 10.1002/humu.22916

  9. A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole-Genome Low-Coverage Sequencing

    Human Mutation

    Volume 35, Issue 5, May 2014, Pages: 625–636, Zirui Dong, Lupin Jiang, Chuanchun Yang, Hua Hu, Xiuhua Wang, Haixiao Chen, Kwong Wai Choy, Huamei Hu, Yanling Dong, Bin Hu, Juchun Xu, Yang Long, Sujie Cao, Hui Chen, Wen-Jing Wang, Hui Jiang, Fengping Xu, Hong Yao, Xun Xu and Zhiqing Liang

    Version of Record online : 9 APR 2014, DOI: 10.1002/humu.22541

  10. Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype–Phenotype Correlations

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 881–893, Juan Arredondo, Marian Lara, Sídney M. Gospe Jr., Claudio G. Mazia, Maria Vaccarezza, Marcela Garcia-Erro, Constance M. Bowe, Celia H. Chang, Michelle M. Mezei and Ricardo A. Maselli

    Version of Record online : 24 JUL 2015, DOI: 10.1002/humu.22823

  11. You have free access to this content
    Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy

    Human Mutation

    Volume 37, Issue 1, January 2016, Pages: 98–109, Davide Visigalli, Patrizio Castagnola, Giovanna Capodivento, Alessandro Geroldi, Emilia Bellone, Gianluigi Mancardi, Davide Pareyson, Angelo Schenone and Lucilla Nobbio

    Version of Record online : 5 NOV 2015, DOI: 10.1002/humu.22921

  12. Performance of Protein Disorder Prediction Programs on Amino Acid Substitutions

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 794–804, Heidi Ali, Siddhaling Urolagin, Ömer Gurarslan and Mauno Vihinen

    Version of Record online : 21 MAY 2014, DOI: 10.1002/humu.22564

  13. Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1424–1431, Logan C. Walker, Phillip J. Whiley, Claude Houdayer, Thomas V. O. Hansen, Ana Vega, Marta Santamarina, Ana Blanco, Laura Fachal, Melissa C. Southey, Alan Lafferty, Mara Colombo, Giovanna De Vecchi, Paolo Radice, Amanda B. Spurdle and on behalf of the ENIGMA consortium

    Version of Record online : 13 AUG 2013, DOI: 10.1002/humu.22388

  14. You have free access to this content
    Analysis of TP53 Mutation Status in Human Cancer Cell Lines: A Reassessment

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 756–765, Bernard Leroy, Luc Girard, Antoinette Hollestelle, John D. Minna, Adi F. Gazdar and Thierry Soussi

    Version of Record online : 6 MAY 2014, DOI: 10.1002/humu.22556

  15. You have full text access to this OnlineOpen article
    Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1260–1268, Emma L. Blakely, John W. Yarham, Charlotte L. Alston, Kate Craig, Joanna Poulton, Charlotte Brierley, Soo-Mi Park, Andrew Dean, John H. Xuereb, Kirstie N. Anderson, Alistair Compston, Chris Allen, Saba Sharif, Peter Enevoldson, Martin Wilson, Simon R. Hammans, Douglass M. Turnbull, Robert McFarland and Robert W. Taylor

    Version of Record online : 14 AUG 2013, DOI: 10.1002/humu.22358

  16. 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

  17. You have free access to this content
    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

    Version of Record online : 6 MAY 2014, DOI: 10.1002/humu.22561

  18. Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1203–1210, Periklis Makrythanasis, Mari Nelis, Federico A. Santoni, Michel Guipponi, Anne Vannier, Frédérique Béna, Stefania Gimelli, Elisavet Stathaki, Samia Temtamy, André Mégarbané, Amira Masri, Mona S. Aglan, Maha S. Zaki, Armand Bottani, Siv Fokstuen, Lorraine Gwanmesia, Konstantinos Aliferis, Mariana Bustamante Eduardo, Georgios Stamoulis, Stavroula Psoni, Sofia Kitsiou-Tzeli, Helen Fryssira, Emmanouil Kanavakis, Nasir Al-Allawi, Abdelaziz Sefiani, Sana' Al Hait, Siham C. Elalaoui, Nadine Jalkh, Lihadh Al-Gazali, Fatma Al-Jasmi, Habiba Chaabouni Bouhamed, Ebtesam Abdalla, David N. Cooper, Hanan Hamamy and Stylianos E. Antonarakis

    Version of Record online : 18 AUG 2014, DOI: 10.1002/humu.22617

  19. 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

    Version of Record online : 6 MAR 2014, DOI: 10.1002/humu.22525

  20. You have full text access to this OnlineOpen article
    Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 45–49, Sarah L. Sawyer, Jeremy Schwartzentruber, Chandree L. Beaulieu, David Dyment, Amanda Smith, Jodi Warman Chardon, Grace Yoon, Guy A. Rouleau, Oksana Suchowersky, Victoria Siu, Lisa Murphy, Robert A. Hegele, Christian R. Marshall, FORGE Canada Consortium, Dennis E. Bulman, Jacek Majewski, Mark Tarnopolsky and Kym M. Boycott

    Version of Record online : 13 NOV 2013, DOI: 10.1002/humu.22451