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There are 10596 results for: content related to: In Silico Interpretation of the Splicing Code and Estimating the Abundance of Expressed mRNA Isoforms

  1. Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1249–1259, Neeraj Sharma, Patrick R. Sosnay, Anabela S. Ramalho, Christopher Douville, Arianna Franca, Laura B. Gottschalk, Jeenah Park, Melissa Lee, Briana Vecchio-Pagan, Karen S. Raraigh, Margarida D. Amaral, Rachel Karchin and Garry R. Cutting

    Article first published online : 10 SEP 2014, DOI: 10.1002/humu.22624

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    From Phenotype to Genotype: A New Twist on Identifying Genes Responsible for Inherited Hearing Loss

    Human Mutation

    Volume 34, Issue 4, April 2013, Page: v, Sean Mooney

    Article first published online : 20 MAR 2013, DOI: 10.1002/humu.22182

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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

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

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

  4. An automated technique for carotid far wall classification using grayscale features and wall thickness variability

    Journal of Clinical Ultrasound

    U. Rajendra Acharya, S. Vinitha Sree, Filippo Molinari, Luca Saba, Andrew Nicolaides and Jasjit S. Suri

    Article first published online : 9 JUN 2014, DOI: 10.1002/jcu.22183

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    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

  6. 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

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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

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  8. 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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    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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    Prediction of Mutant mRNA Splice Isoforms by Information Theory-Based Exon Definition

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 557–565, Eliseos J. Mucaki, Ben C. Shirley and Peter K. Rogan

    Article first published online : 21 FEB 2013, DOI: 10.1002/humu.22277

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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

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    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

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    An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 39–42, Miriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, Susanne Kohl, Françoise Meire, Karin Dahan, Fanny Depasse, Sarah De Jaegere, Thomy De Ravel, Marjan De Rademaeker, Bart Loeys, Frauke Coppieters, Bart P. Leroy and Elfride De Baere

    Article first published online : 30 DEC 2014, DOI: 10.1002/humu.22716

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    Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1446–1448, Muslim M. Alsaadi, A. Mesut Erzurumluoglu, Santiago Rodriguez, Philip A. I. Guthrie, Tom R. Gaunt, Hager Z. Omar, Mohammad Mubarak, Khalid K. Alharbi, Ammar C. Al-Rikabi and Ian N. M. Day

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22698

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    Next Generation Genetic Testing for Retinitis Pigmentosa

    Human Mutation

    Volume 34, Issue 8, August 2013, Page: 1181, Kornelia Neveling, Rob W.J. Collin, Christian Gilissen, Ramon A.C. van Huet, Linda Visser, Michael P. Kwint, Sabine J. Gijsen, Marijke N. Zonneveld, Nienke Wieskamp, Joep de Ligt, Anna M. Siemiatkowska, Lies H. Hoefsloot, Michael F. Buckley, Ulrich Kellner, Kari E. Branham, Anneke I. den Hollander, Alexander Hoischen, Carel Hoyng, B. Jeroen Klevering, L. Ingeborgh van den Born, Joris A. Veltman, Frans P.M. Cremers and Hans Scheffer

    Article first published online : 12 JUN 2013, DOI: 10.1002/humu.22357

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    Next-generation genetic testing for retinitis pigmentosa1

    Vol. 33, Issue 6, 963–972, Article first published online: 19 MAR 2012

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    Novel strategies for classifying splice-site variants of unknown clinical significance in CFTR

    Human Mutation

    Volume 34, Issue 5, May 2013, Page: v, Catherine Costa

    Article first published online : 11 APR 2013, DOI: 10.1002/humu.22184

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    A Disruptive Paradigm of Genetic Data Sharing and Analysis

    Human Mutation

    Volume 34, Issue 9, September 2013, Page: iv, Richard Cotton

    Article first published online : 14 AUG 2013, DOI: 10.1002/humu.22195

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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

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    Contents

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: i–iii,

    Article first published online : 10 JAN 2014, DOI: 10.1002/humu.22510

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    Contents

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: i–iii,

    Article first published online : 14 AUG 2014, DOI: 10.1002/humu.22628

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    Deciphering the cis-Regulatory Landscape of SOX9 Implicated in Craniofacial Development and Isolated Pierre Robin Sequence

    Human Mutation

    Volume 35, Issue 8, August 2014, Page: v, Elfride De Baere

    Article first published online : 17 JUL 2014, DOI: 10.1002/humu.22411