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There are 18869 results for: content related to: Audio G ene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

  1. 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

  2. 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

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    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

    Article first published online : 17 JUL 2014, DOI: 10.1002/humu.22602

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    Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 1011–1020, Christopher T. Gordon, Catia Attanasio, Shipra Bhatia, Sabina Benko, Morad Ansari, Tiong Y. Tan, Arnold Munnich, Len A. Pennacchio, Véronique Abadie, I. Karen Temple, Alice Goldenberg, Veronica van Heyningen, Jeanne Amiel, David FitzPatrick, Dirk A. Kleinjan, Axel Visel and Stanislas Lyonnet

    Article first published online : 17 JUL 2014, DOI: 10.1002/humu.22606

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    Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1495–1505, Anne Gregor, Jamie M. Kramer, Monique van der Voet, Ina Schanze, Steffen Uebe, Rogier Donders, André Reis, Annette Schenck and Christiane Zweier

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22697

  6. Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations

    Human Mutation

    Volume 35, Issue 11, November 2014, Pages: 1363–1371, Laurie B. Griffin, Reiko Sakaguchi, David McGuigan, Michael A. Gonzalez, Charles Searby, Stephan Züchner, Ya-Ming Hou and Anthony Antonellis

    Article first published online : 28 OCT 2014, DOI: 10.1002/humu.22681

  7. A New Overgrowth Syndrome is due to Mutations in RNF125

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1436–1441, Jair Tenorio, Alicia Mansilla, María Valencia, Víctor Martínez-Glez, Valeria Romanelli, Pedro Arias, Nerea Castrejón, Fernando Poletta, Encarna Guillén-Navarro, Gema Gordo, Elena Mansilla, Fé García-Santiago, Isabel González-Casado, Elena Vallespín, María Palomares, María A. Mori, Fernando Santos-Simarro, Sixto García-Miñaur, Luis Fernández, Rocío Mena, Sara Benito-Sanz, Ángela del Pozo, Juan Carlos Silla, Kristina Ibañez, Eduardo López-Granados, Alex Martín-Trujillo, David Montaner, The SOGRI Consortium, Karen E. Heath, Ángel Campos-Barros, Joaquín Dopazo, Julián Nevado, David Monk, Víctor L. Ruiz-Pérez and Pablo Lapunzina

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22689

  8. Vanno: A Visualization-Aided Variant Annotation Tool

    Human Mutation

    Volume 36, Issue 2, February 2015, Pages: 167–174, Po-Jung Huang, Chi-Ching Lee, Bertrand Chin-Ming Tan, Yuan-Ming Yeh, Kuo-Yang Huang, Ruei-Chi Gan, Ting-Wen Chen, Cheng-Yang Lee, Sheng-Ting Yang, Chung-Shou Liao, Hsuan Liu and Petrus Tang

    Article first published online : 4 FEB 2015, DOI: 10.1002/humu.22684

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    TP53 Mutations in Human Cancer: Database Reassessment and Prospects for the Next Decade

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 672–688, Bernard Leroy, Martha Anderson and Thierry Soussi

    Article first published online : 20 MAY 2014, DOI: 10.1002/humu.22552

  10. Mutations in NTRK3 Suggest a Novel Signaling Pathway in Human Congenital Heart Disease

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1459–1468, Petra Werner, Prasuna Paluru, Anisha M. Simpson, Brande Latney, Radhika Iyer, Garrett M. Brodeur and Elizabeth Goldmuntz

    Article first published online : 7 NOV 2014, DOI: 10.1002/humu.22688

  11. You have full text access to this OnlineOpen article
    Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1221–1232, Gilles Morin, Nadina Ortiz Bruechle, Amrathlal Rabbind Singh, Cordula Knopp, Guillaume Jedraszak, Miriam Elbracht, Dominique Brémond-Gignac, Kathi Hartmann, Henri Sevestre, Peter Deutz, Didier Hérent, Peter Nürnberg, Bernard Roméo, Kerstin Konrad, Michèle Mathieu-Dramard, Johannes Oldenburg, Elisabeth Bourges-Petit, Yuequan Shen, Klaus Zerres, Halima Ouadid-Ahidouch and Jacques Rochette

    Article first published online : 25 SEP 2014, DOI: 10.1002/humu.22621

    Corrected by:

    Erratum: Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome

    Vol. 35, Issue 12, 1542, Article first published online: 24 NOV 2014

  12. Mutation Update for UBE3A Variants in Angelman Syndrome

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1407–1417, Bekim Sadikovic, Priscilla Fernandes, Victor Wei Zhang, Patricia A. Ward, Irene Miloslavskaya, William Rhead, Richard Rosenbaum, Robert Gin, Benjamin Roa and Ping Fang

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22687

  13. Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1153–1162, Bodo B. Beck, Jennifer B. Phillips, Malte P. Bartram, Jeremy Wegner, Michaela Thoenes, Andrea Pannes, Josephina Sampson, Raoul Heller, Heike Göbel, Friederike Koerber, Antje Neugebauer, Andrea Hedergott, Gudrun Nürnberg, Peter Nürnberg, Holger Thiele, Janine Altmüller, Mohammad R. Toliat, Simon Staubach, Kym M. Boycott, Enza Maria Valente, Andreas R. Janecke, Tobias Eisenberger, Carsten Bergmann, Lars Tebbe, Yang Wang, Yundong Wu, Andrew M. Fry, Monte Westerfield, Uwe Wolfrum and Hanno J. Bolz

    Article first published online : 11 AUG 2014, DOI: 10.1002/humu.22618

  14. Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 462–472, Dinu Antony, Anita Becker-Heck, Maimoona A. Zariwala, Miriam Schmidts, Alexandros Onoufriadis, Mitra Forouhan, Robert Wilson, Theresa Taylor-Cox, Ann Dewar, Claire Jackson, Patricia Goggin, Niki T. Loges, Heike Olbrich, Martine Jaspers, Mark Jorissen, Margaret W. Leigh, Whitney E. Wolf, M. Leigh Anne Daniels, Peadar G. Noone, Thomas W. Ferkol, Scott D. Sagel, Margaret Rosenfeld, Andrew Rutman, Abhijit Dixit, Christopher O'Callaghan, Jane S. Lucas, Claire Hogg, Peter J. Scambler, Richard D. Emes, UK10K, Eddie M.K. Chung, Amelia Shoemark, Michael R. Knowles, Heymut Omran and Hannah M. Mitchison

    Article first published online : 11 FEB 2013, DOI: 10.1002/humu.22261

  15. In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1387–1395, Lorea Blázquez, Ana Aiastui, Maria Goicoechea, Mafalda Martins de Araujo, Aurélie Avril, Cyriaque Beley, Luis García, Juan Valcárcel, Puri Fortes and Adolfo López de Munain

    Article first published online : 7 AUG 2013, DOI: 10.1002/humu.22379

  16. 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

    Article first published online : 18 FEB 2013, DOI: 10.1002/humu.22269

  17. 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

    Article first published online : 6 APR 2015, DOI: 10.1002/humu.22770

  18. A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1163–1170, Daniela Rossi, Bianca Vezzani, Lucia Galli, Cecilia Paolini, Luana Toniolo, Enrico Pierantozzi, Simone Spinozzi, Virginia Barone, Elena Pegoraro, Luca Bello, Giovanna Cenacchi, Gaetano Vattemi, Giuliano Tomelleri, Giulia Ricci, Gabriele Siciliano, Feliciano Protasi, Carlo Reggiani and Vincenzo Sorrentino

    Article first published online : 10 SEP 2014, DOI: 10.1002/humu.22631

  19. RASopathy-Associated CBL Germline Mutations Cause Aberrant Ubiquitylation and Trafficking of EGFR

    Human Mutation

    Volume 35, Issue 11, November 2014, Pages: 1372–1381, Kristina Brand, Hendrik Kentsch, Christina Glashoff and Georg Rosenberger

    Article first published online : 28 OCT 2014, DOI: 10.1002/humu.22682

  20. 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

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22693