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There are 42019 results for: content related to: From Phenotype to Genotype: A New Twist on Identifying Genes Responsible for Inherited Hearing Loss

  1. You have free access to this content
    In Silico Interpretation of the Splicing Code and Estimating the Abundance of Expressed mRNA Isoforms

    Human Mutation

    Volume 34, Issue 4, April 2013, Page: v, Bing Yu

    Article first published online : 20 MAR 2013, DOI: 10.1002/humu.22183

  2. Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 669–685, Kevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, Sarah E. Flanagan and Sian Ellard

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22279

  3. RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1632–1641, Nicole Revencu, Laurence M. Boon, Antonella Mendola, Maria Rosa Cordisco, Josée Dubois, Philippe Clapuyt, Frank Hammer, David J. Amor, Alan D. Irvine, Eulalia Baselga, Anne Dompmartin, Samira Syed, Ana Martin-Santiago, Lesley Ades, Felicity Collins, Janine Smith, Sarah Sandaradura, Victoria R. Barrio, Patricia E. Burrows, Francine Blei, Mariarosaria Cozzolino, Nicola Brunetti-Pierri, Asuncion Vicente, Marc Abramowicz, Julie Désir, Catheline Vilain, Wendy K. Chung, Ashley Wilson, Carol A. Gardiner, Yim Dwight, David J.E. Lord, Leona Fishman, Cheryl Cytrynbaum, Sarah Chamlin, Fred Ghali, Yolanda Gilaberte, Shelagh Joss, Maria del C. Boente, Christine Léauté-Labrèze, Marie-Ange Delrue, Susan Bayliss, Loreto Martorell, Maria-Antonia González-Enseñat, Juliette Mazereeuw-Hautier, Brid O'Donnell, Didier Bessis, Reed E. Pyeritz, Aicha Salhi, Oon T. Tan, Orli Wargon, John B. Mulliken and Miikka Vikkula

    Article first published online : 10 OCT 2013, DOI: 10.1002/humu.22431

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    New Tools of the Trade for Large-scale Collaborative Genome Analysis

    Human Mutation

    Volume 34, Issue 6, June 2013, Page: v, Madhuri Hegde

    Article first published online : 20 MAY 2013, DOI: 10.1002/humu.22188

  5. Response to: Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?

    Human Mutation

    Volume 36, Issue 3, March 2015, Page: 389, Mark E. Samuels, Nathalie Alos and Cheri L. Deal

    Article first published online : 13 MAR 2015, DOI: 10.1002/humu.22752

  6. 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

    Article first published online : 13 NOV 2013, DOI: 10.1002/humu.22451

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    GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 842–846, Michael A. Gonzalez, Rafael F. Acosta Lebrigio, Derek Van Booven, Rick H. Ulloa, Eric Powell, Fiorella Speziani, Mustafa Tekin, Rebecca Schüle and Stephan Züchner

    Article first published online : 3 APR 2013, DOI: 10.1002/humu.22305

  8. The Finnish Disease Heritage Database (FinDis) Update—A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1458–1466, Anne Polvi, Henna Linturi, Teppo Varilo, Anna-Kaisa Anttonen, Myles Byrne, Ivo F.A.C. Fokkema, Henrikki Almusa, Anthony Metzidis, Kristiina Avela, Pertti Aula, Marjo Kestilä and Juha Muilu

    Article first published online : 13 SEP 2013, DOI: 10.1002/humu.22389

  9. AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 539–545, Kyle R. Taylor, Adam P. DeLuca, A. Eliot Shearer, Michael S. Hildebrand, E. Ann Black-Ziegelbein, V. Nikhil Anand, Christina M. Sloan, Robert W. Eppsteiner, Todd E. Scheetz, Patrick L. M. Huygen, Richard J. H. Smith, Terry A. Braun and Thomas L. Casavant

    Article first published online : 19 FEB 2013, DOI: 10.1002/humu.22268

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    Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

    Human Mutation

    Volume 36, Issue 2, February 2015, Pages: 279–280, Diana Braunholz, Carolin Obieglo, Ilaria Parenti, Jelena Pozojevic, Juliane Eckhold, Benedikt Reiz, Ingrid Brænne, Kerstin S. Wendt, Erwan Watrin, Julia Vodopiutz, Harald Rieder, Gabriele Gillessen-Kaesbach and Frank J. Kaiser

    Article first published online : 4 FEB 2015, DOI: 10.1002/humu.22755

    This article corrects:
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    Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 409–410, Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Karin Mayer, Nathalie Lannoy, Frances Elmslie, Martina Bebin, Kira Dies, Catherine Thompson, Steven P. Sparagana, Peter Davies, Agnies M. van Eeghen, Elizabeth A. Thiele, Ans van den Ouweland, Dicky Halley and Mark Nellist

    Article first published online : 7 JAN 2013, DOI: 10.1002/humu.22256

    This article corrects:

    Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

    Vol. 34, Issue 1, 167–175, Article first published online: 11 OCT 2012

  12. You have free access to this content
    Majority Vote and Other Problems when using Computational Tools

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 912–914, Mauno Vihinen

    Article first published online : 28 JUN 2014, DOI: 10.1002/humu.22600

  13. Functional Analyses of Mutations in HEPACAM Causing Megalencephalic Leukoencephalopathy

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1175–1178, Tanit Arnedo, Tania López-Hernández, Elena Jeworutzki, Xavier Capdevila-Nortes, Sònia Sirisi, Michael Pusch and Raúl Estévez

    Article first published online : 18 AUG 2014, DOI: 10.1002/humu.22622

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    A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

    Human Mutation

    Volume 35, Issue 4, April 2014, Page: 512, Heather M. McLaughlin, Reiko Sakaguchi, William Giblin, NIH Intramural Sequencing Center, Thomas E. Wilson, Leslie Biesecker, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Yi-Chung Lee, Marina Kennerson, Ya-Ming Hou, Garth Nicholson and Anthony Antonellis

    Article first published online : 18 FEB 2014, DOI: 10.1002/humu.22527

    This article corrects:
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    How to Assess Causality of TMPRSS6 Mutations?

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 1043–1045, Laura Silvestri, Marco Rausa, Alessia Pagani, Antonella Nai and Clara Camaschella

    Article first published online : 17 APR 2013, DOI: 10.1002/humu.22321

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    Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate

    Human Mutation

    Volume 34, Issue 2, February 2013, Page: 408, D. M. Warthen, E. C. Moore, B. M. Kamath, J. J. D. Morrissette, P. A. Sanchez-Lara, D. A. Piccoli, I. D. Krantz and N. B. Spinner

    Article first published online : 20 DEC 2012, DOI: 10.1002/humu.22255

    This article corrects:

    Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate12

    Vol. 27, Issue 5, 436–443, Article first published online: 30 MAR 2006

  17. Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?

    Human Mutation

    Volume 36, Issue 3, March 2015, Page: 388, Dylan A. Mordaunt and Ravi Savaririyan

    Article first published online : 13 MAR 2015, DOI: 10.1002/humu.22753

  18. HSF4 Mutation p.Arg116His Found in Age-Related Cataracts and in Normal Populations Produces Childhood Lamellar Cataract in Transgenic Mice

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1068–1071, Zhe Jing, Rajendra K. Gangalum, Ankur M. Bhat, Yoshiko Nagaoka, Meisheng Jiang and Suraj P. Bhat

    Article first published online : 23 JUL 2014, DOI: 10.1002/humu.22610

  19. Founder Mutation in RSPH4A Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1352–1356, M. Leigh Anne Daniels, Margaret W. Leigh, Stephanie D. Davis, Michael C. Armstrong, Johnny L. Carson, Milan Hazucha, Sharon D. Dell, Maria Eriksson, Francis S. Collins, Michael R. Knowles and Maimoona A. Zariwala

    Article first published online : 6 AUG 2013, DOI: 10.1002/humu.22371

  20. You have full text access to this OnlineOpen article
    Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 1021–1032, Kaye N. Ballantyne, Arwin Ralf, Rachid Aboukhalid, Niaz M. Achakzai, Maria J. Anjos, Qasim Ayub, Jože Balažic, Jack Ballantyne, David J. Ballard, Burkhard Berger, Cecilia Bobillo, Mehdi Bouabdellah, Helen Burri, Tomas Capal, Stefano Caratti, Jorge Cárdenas, François Cartault, Elizeu F. Carvalho, Monica Carvalho, Baowen Cheng, Michael D. Coble, David Comas, Daniel Corach, Maria E. D'Amato, Sean Davison, Peter de Knijff, Maria Corazon A. De Ungria, Ronny Decorte, Tadeusz Dobosz, Berit M. Dupuy, Samir Elmrghni, Mateusz Gliwiński, Sara C. Gomes, Laurens Grol, Cordula Haas, Erin Hanson, Jürgen Henke, Lotte Henke, Fabiola Herrera-Rodríguez, Carolyn R. Hill, Gunilla Holmlund, Katsuya Honda, Uta-Dorothee Immel, Shota Inokuchi, Mark A. Jobling, Mahmoud Kaddura, Jong S. Kim, Soon H. Kim, Wook Kim, Turi E. King, Eva Klausriegler, Daniel Kling, Lejla Kovačević, Leda Kovatsi, Paweł Krajewski, Sergey Kravchenko, Maarten H. D. Larmuseau, Eun Young Lee, Ruediger Lessig, Ludmila A. Livshits, Damir Marjanović, Marek Minarik, Natsuko Mizuno, Helena Moreira, Niels Morling, Meeta Mukherjee, Patrick Munier, Javaregowda Nagaraju, Franz Neuhuber, Shengjie Nie, Premlaphat Nilasitsataporn, Takeki Nishi, Hye H. Oh, Jill Olofsson, Valerio Onofri, Jukka U. Palo, Horolma Pamjav, Walther Parson, Michal Petlach, Christopher Phillips, Rafal Ploski, Samayamantri P. R. Prasad, Dragan Primorac, Gludhug A. Purnomo, Josephine Purps, Hector Rangel-Villalobos, Krzysztof Rębała, Budsaba Rerkamnuaychoke, Danel Rey Gonzalez, Carlo Robino, Lutz Roewer, Alexandra Rosa, Antti Sajantila, Andrea Sala, Jazelyn M. Salvador, Paula Sanz, Cornelia Schmitt, Anil K. Sharma, Dayse A. Silva, Kyoung-Jin Shin, Titia Sijen, Miriam Sirker, Daniela Siváková, Vedrana Škaro, Carlos Solano-Matamoros, Luis Souto, Vlastimil Stenzl, Herawati Sudoyo, Denise Syndercombe-Court, Adriano Tagliabracci, Duncan Taylor, Andreas Tillmar, Iosif S. Tsybovsky, Chris Tyler-Smith, Kristiaan J. van der Gaag, Daniel Vanek, Antónia Völgyi, Denise Ward, Patricia Willemse, Eric P.H. Yap, Rita Y.Y. Yong, Irena Zupanič Pajnič and Manfred Kayser

    Article first published online : 14 JUL 2014, DOI: 10.1002/humu.22599