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There are 14957 results for: content related to: Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

  1. 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

  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. wKinMut-2: Identification and Interpretation of Pathogenic Variants in Human Protein Kinases

    Human Mutation

    Miguel Vazquez, Tirso Pons, Søren Brunak, Alfonso Valencia and Jose M.G. Izarzugaza

    Article first published online : 20 OCT 2015, DOI: 10.1002/humu.22914

  4. 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

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    Performance of mutation pathogenicity prediction methods on missense variants

    Human Mutation

    Volume 32, Issue 4, April 2011, Pages: 358–368, Janita Thusberg, Ayodeji Olatubosun and Mauno Vihinen

    Article first published online : 22 FEB 2011, DOI: 10.1002/humu.21445

  6. You have free access to this content
    A systematic approach to assessing the clinical significance of genetic variants

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 453–463, H Duzkale, J Shen, H McLaughlin, A Alfares, MA Kelly, TJ Pugh, BH Funke, HL Rehm and MS Lebo

    Article first published online : 17 OCT 2013, DOI: 10.1111/cge.12257



    Volume 65, Issue 8, August 2011, Pages: 2380–2390, Tobias L. Lenz

    Article first published online : 20 APR 2011, DOI: 10.1111/j.1558-5646.2011.01288.x

  8. 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

  9. 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

  10. 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

  11. 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

  12. You have full text access to this OnlineOpen article
    Variability in pathogenicity prediction programs: impact on clinical diagnostics

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 2, March 2015, Pages: 99–110, Lauren C. Walters-Sen, Sayaka Hashimoto, Devon Lamb Thrush, Shalini Reshmi, Julie M. Gastier-Foster, Caroline Astbury and Robert E. Pyatt

    Article first published online : 3 DEC 2014, DOI: 10.1002/mgg3.116

  13. High-throughput UHPLC–MS/MS method for the detection, quantification and identification of fifty-five anabolic and androgenic steroids in equine plasma

    Journal of Mass Spectrometry

    Volume 45, Issue 11, November 2010, Pages: 1270–1279, Fuyu Guan, Cornelius E. Uboh, Lawrence R. Soma, Youwen You, Ying Liu and Xiaoqing Li

    Article first published online : 25 SEP 2010, DOI: 10.1002/jms.1816

  14. A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 191–199, Aimée Vester, Gisselle Velez-Ruiz, Heather M. McLaughlin, NISC Comparative Sequencing Program, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Ricardo H. Roda, Kenneth H. Fischbeck, Leslie G. Biesecker, Garth Nicholson, Asim A. Beg and Anthony Antonellis

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22210

  15. Computational prediction of anti HIV-1 peptides and in vitro evaluation of anti HIV-1 activity of HIV-1 P24-derived peptides

    Journal of Peptide Science

    Volume 21, Issue 1, January 2015, Pages: 10–16, Naghmeh Poorinmohammad, Hassan Mohabatkar, Mandana Behbahani and Davood Biria

    Article first published online : 19 NOV 2014, DOI: 10.1002/psc.2712

  16. Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

    Human Mutation

    Jan Lukas, Simone Scalia, Sabrina Eichler, Anne-Marie Pockrandt, Nicole Dehn, Claudia Cozma, Anne-Katrin Giese and Arndt Rolfs

    Article first published online : 27 OCT 2015, DOI: 10.1002/humu.22910

  17. Physics-based enzyme design: Predicting binding affinity and catalytic activity

    Proteins: Structure, Function, and Bioinformatics

    Volume 82, Issue 12, December 2014, Pages: 3397–3409, Sarah Sirin, David A. Pearlman and Woody Sherman

    Article first published online : 30 OCT 2014, DOI: 10.1002/prot.24694

  18. You have free access to this content
    The Burkholderia cenocepacia BDSF quorum sensing fatty acid is synthesized by a bifunctional crotonase homologue having both dehydratase and thioesterase activities

    Molecular Microbiology

    Volume 83, Issue 4, February 2012, Pages: 840–855, Hongkai Bi, Quin H. Christensen, Youjun Feng, Haihong Wang and John E. Cronan

    Article first published online : 29 JAN 2012, DOI: 10.1111/j.1365-2958.2012.07968.x

  19. From proteomes to complexomes in the era of systems biology


    Volume 14, Issue 1, January 2014, Pages: 24–41, Trevor Clancy and Eivind Hovig

    Article first published online : 13 JAN 2014, DOI: 10.1002/pmic.201300230

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

    Human Mutation

    Accepted manuscript online: 10 NOV 2015, Xiaoming Liu, Chunlei Wu, Chang Li and Eric Boerwinkle

    DOI: 10.1002/humu.22932