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There are 15067 results for: content related to: Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

  1. Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 779–790, Minttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, Tuula A. Nyman, Christine Barnerias, Alan H. Beggs, Enrico Bertini, Özge Ceyhan-Birsoy, Pascal Cintas, Marion Gerard, Brigitte Gilbert-Dussardier, Jacob S. Hogue, Cheryl Longman, Bruno Eymard, Moshe Frydman, Peter B. Kang, Lars Klinge, Hanna Kolski, Hans Lochmüller, Laurent Magy, Véronique Manel, Michèle Mayer, Eugenio Mercuri, Kathryn N. North, Sylviane Peudenier-Robert, Helena Pihko, Frank J. Probst, Ricardo Reisin, Willie Stewart, Ana Lia Taratuto, Marianne de Visser, Ekkehard Wilichowski, John Winer, Kristen Nowak, Nigel G. Laing, Tom L. Winder, Nicole Monnier, Nigel F. Clarke, Katarina Pelin, Mikaela Grönholm and Carina Wallgren-Pettersson

    Article first published online : 1 MAY 2014, DOI: 10.1002/humu.22554

  2. MitImpact: an Exhaustive Collection of Pre-computed Pathogenicity Predictions of Human Mitochondrial Non-synonymous Variants

    Human Mutation

    Volume 36, Issue 2, February 2015, Pages: E2413–E2422, Stefano Castellana, Judit Rónai and Tommaso Mazza

    Article first published online : 17 DEC 2014, DOI: 10.1002/humu.22720

  3. You have full text access to this OnlineOpen article
    The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

    Human Mutation

    Volume 36, Issue 5, May 2015, Pages: 513–523, Dominik G. Grimm, Chloé-Agathe Azencott, Fabian Aicheler, Udo Gieraths, Daniel G. MacArthur, Kaitlin E. Samocha, David N. Cooper, Peter D. Stenson, Mark J. Daly, Jordan W. Smoller, Laramie E. Duncan and Karsten M. Borgwardt

    Article first published online : 26 MAR 2015, DOI: 10.1002/humu.22768

  4. dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

    Human Mutation

    Xiaoming Liu, Chunlei Wu, Chang Li and Eric Boerwinkle

    Article first published online : 5 JAN 2016, DOI: 10.1002/humu.22932

  5. 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

    Article first published online : 5 OCT 2015, DOI: 10.1002/humu.22903

  6. CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 828–840, Maria Chiara Scaini, Giovanni Minervini, Lisa Elefanti, Paola Ghiorzo, Lorenza Pastorino, Silvia Tognazzo, Simona Agata, Monica Quaggio, Daniela Zullato, Giovanna Bianchi-Scarrà, Marco Montagna, Emma D'Andrea, Chiara Menin and Silvio C.E. Tosatto

    Article first published online : 21 MAY 2014, DOI: 10.1002/humu.22550

  7. 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

  8. 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

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    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

    Article first published online : 11 FEB 2014, DOI: 10.1002/humu.22506

  10. Topology and Membrane Anchoring of the Lysosomal Storage Disease-Related Protein CLN5

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1688–1697, Heidi Larkin, Maria Gil Ribeiro and Christine Lavoie

    Article first published online : 10 OCT 2013, DOI: 10.1002/humu.22443

  11. The Spectrum of ELANE Mutations and their Implications in Severe Congenital and Cyclic Neutropenia

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 905–914, Manuela Germeshausen, Sabine Deerberg, Yvonne Peter, Christina Reimer, Christian P. Kratz and Matthias Ballmaier

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22308

  12. 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

    Article first published online : 29 APR 2013, DOI: 10.1002/humu.22319

  13. Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes

    Human Mutation

    Volume 35, Issue 11, November 2014, Pages: 1342–1353, Elizabeth K. Flynn, Aparna Kamat, Francis P. Lach, Frank X. Donovan, Danielle C. Kimble, Narisu Narisu, Erica Sanborn, Farid Boulad, Stella M. Davies, Alfred P. Gillio III, Richard E. Harris, Margaret L. MacMillan, John E. Wagner, Agata Smogorzewska, Arleen D. Auerbach, Elaine A. Ostrander and Settara C. Chandrasekharappa

    Article first published online : 28 OCT 2014, DOI: 10.1002/humu.22680

  14. You have free access to this content
    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

    Article first published online : 21 JUL 2014, DOI: 10.1002/humu.22611

  15. Activating Mutations Cluster in the “Molecular Brake” Regions of Protein Kinases and Do Not Associate with Conserved or Catalytic Residues

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 318–328, Miguel A. Molina-Vila, Nuria Nabau-Moretó, Cristian Tornador, Amit J. Sabnis, Rafael Rosell, Xavier Estivill, Trever G. Bivona and Cristina Marino-Buslje

    Article first published online : 8 JAN 2014, DOI: 10.1002/humu.22493

  16. You have free access to this content
    dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: E2393–E2402, Xiaoming Liu, Xueqiu Jian and Eric Boerwinkle

    Article first published online : 10 JUL 2013, DOI: 10.1002/humu.22376

  17. Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1128–1134, Abhishek Niroula and Mauno Vihinen

    Article first published online : 22 SEP 2015, DOI: 10.1002/humu.22900

  18. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1113–1127, Rajiv D. Machado, Laura Southgate, Christina A. Eichstaedt, Micheala A. Aldred, Eric D. Austin, D. Hunter Best, Wendy K. Chung, Nicola Benjamin, C. Gregory Elliott, Mélanie Eyries, Christine Fischer, Stefan Gräf, Katrin Hinderhofer, Marc Humbert, Steven B. Keiles, James E. Loyd, Nicholas W. Morrell, John H. Newman, Florent Soubrier, Richard C. Trembath, Rebecca Rodríguez Viales and Ekkehard Grünig

    Article first published online : 12 OCT 2015, DOI: 10.1002/humu.22904

  19. Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients

    Human Mutation

    Volume 36, Issue 11, November 2015, Pages: 1088–1099, Anna Ronowicz, Anna Janaszak-Jasiecka, Jarosław Skokowski, Piotr Madanecki, Rafal Bartoszewski, Magdalena Bałut, Barbara Seroczyńska, Kinga Kochan, Adam Bogdan, Małgorzata Butkus, Rafał Pęksa, Magdalena Ratajska, Alina Kuźniacka, Bartosz Wasąg, Magdalena Gucwa, Maciej Krzyżanowski, Janusz Jaśkiewicz, Zbigniew Jankowski, Lars Forsberg, J. Renata Ochocka, Janusz Limon, Michael R. Crowley, Patrick G. Buckley, Ludwine Messiaen, Jan P. Dumanski and Arkadiusz Piotrowski

    Article first published online : 14 AUG 2015, DOI: 10.1002/humu.22845

  20. Spectrum of the Mutations in Bernard–Soulier Syndrome

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1033–1045, Anna Savoia, Shinji Kunishima, Daniela De Rocco, Barbara Zieger, Margaret L. Rand, Nuria Pujol-Moix, Umran Caliskan, Huseyin Tokgoz, Alessandro Pecci, Patrizia Noris, Alok Srivastava, Christopher Ward, Marie-Christine Morel-Kopp, Marie-Christine Alessi, Sylvia Bellucci, Philippe Beurrier, Emmanuel de Maistre, Rémi Favier, Nathalie Hézard, Marie-Françoise Hurtaud-Roux, Véronique Latger-Cannard, Cécile Lavenu-Bombled, Valérie Proulle, Sandrine Meunier, Claude Négrier, Alan Nurden, Hanitra Randrianaivo, Fabrizio Fabris, Helen Platokouki, Nurit Rosenberg, Basma HadjKacem, Paula G. Heller, Mehran Karimi, Carlo L. Balduini, Annalisa Pastore and Francois Lanza

    Article first published online : 15 JUL 2014, DOI: 10.1002/humu.22607