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There are 12672 results for: content related to: Prediction of Mutant m RNA Splice Isoforms by Information Theory-Based Exon Definition

  1. Combined Computational–Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon-Skipping Level

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 873–881, Abdel Aissat, Alix de Becdelièvre, Lisa Golmard, Christian Vasseur, Catherine Costa, Asma Chaoui, Natacha Martin, Bruno Costes, Michel Goossens, Emmanuelle Girodon, Pascale Fanen and Alexandre Hinzpeter

    Version of Record online : 28 MAR 2013, DOI: 10.1002/humu.22300

  2. Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations

    Human Mutation

    Volume 37, Issue 7, July 2016, Pages: 640–652, Natasha G. Caminsky, Eliseos J. Mucaki, Ami M. Perri, Ruipeng Lu, Joan H. M. Knoll and Peter K. Rogan

    Version of Record online : 18 MAR 2016, DOI: 10.1002/humu.22972

  3. Molecular Basis of Two-Exon Skipping (Exons 12 and 13) by c.1248+5g>a in OXCT1 Gene: Study on Intermediates of OXCT1 Transcripts in Fibroblasts

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 473–480, Tomohiro Hori, Toshiyuki Fukao, Keiko Murase, Naomi Sakaguchi, Cary O. Harding and Naomi Kondo

    Version of Record online : 22 JAN 2013, DOI: 10.1002/humu.22258

  4. 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

    Version of Record online : 18 FEB 2013, DOI: 10.1002/humu.22269

  5. You have free access to this content
    Variation Interpretation Predictors: Principles, Types, Performance, and Choice

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 579–597, Abhishek Niroula and Mauno Vihinen

    Version of Record online : 15 APR 2016, DOI: 10.1002/humu.22987

  6. A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes

    Human Mutation

    Volume 38, Issue 2, February 2017, Pages: 204–215, Chaolin Zhang and Yufeng Shen

    Version of Record online : 5 DEC 2016, DOI: 10.1002/humu.23147

  7. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Human Mutation

    Volume 37, Issue 9, September 2016, Pages: 847–864, Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper, Mouna Barat-Houari, Nursel H. Elcioglu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoglu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier-Daire, Damien Sanlaville, Fabienne Giuliano, Kim-Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroglu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloes, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit and Bernd Wollnik

    Version of Record online : 7 JUL 2016, DOI: 10.1002/humu.23026

  8. 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

    Version of Record online : 10 SEP 2014, DOI: 10.1002/humu.22624

  9. 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

    Version of Record online : 17 JUL 2014, DOI: 10.1002/humu.22583

  10. Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 215–226, Kathrin Bengesser, Julia Vogt, Tanja Mussotter, Victor-Felix Mautner, Ludwine Messiaen, David N. Cooper and Hildegard Kehrer-Sawatzki

    Version of Record online : 2 DEC 2013, DOI: 10.1002/humu.22473

  11. Transduction-Specific ATLAS Reveals a Cohort of Highly Active L1 Retrotransposons in Human Populations

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 974–985, Catriona M. Macfarlane, Pamela Collier, Raheleh Rahbari, Christine R. Beck, John F. Wagstaff, Samantha Igoe, John V. Moran and Richard M. Badge

    Version of Record online : 23 APR 2013, DOI: 10.1002/humu.22327

  12. 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

    Version of Record online : 2 APR 2013, DOI: 10.1002/humu.22279

  13. Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification

    Human Mutation

    Morten Hillmer, Anna Summerer, Victor-Felix Mautner, Josef Högel, David N. Cooper and Hildegard Kehrer-Sawatzki

    Version of Record online : 22 SEP 2017, DOI: 10.1002/humu.23319

  14. Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey–Hailey Disease

    Human Mutation

    Volume 38, Issue 4, April 2017, Pages: 343–356, Ruud G.L. Nellen, Peter M. Steijlen, Maurice A.M. van Steensel, Maaike Vreeburg, European Professional Contributors, Jorge Frank and Michel van Geel

    Version of Record online : 15 FEB 2017, DOI: 10.1002/humu.23164

  15. Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 797–807, Jonathan H. Chung, Jinlu Cai, Barrie G. Suskin, Zhengdong Zhang, Karlene Coleman and Bernice E. Morrow

    Version of Record online : 2 JUL 2015, DOI: 10.1002/humu.22814

  16. IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1329–1339, Esther van de Vosse, Margje H. Haverkamp, Noe Ramirez-Alejo, Mónica Martinez-Gallo, Lizbeth Blancas-Galicia, Ayşe Metin, Ben Zion Garty, Çağman Sun-Tan, Arnon Broides, Roelof A. de Paus, Özlem Keskin, Deniz Çağdaş, Ilhan Tezcan, Encarna Lopez-Ruzafa, Juan I. Aróstegui, Jacov Levy, Francisco J. Espinosa-Rosales, Özden Sanal, Leopoldo Santos-Argumedo, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Jaap T. van Dissel and Jacinta Bustamante

    Version of Record online : 8 AUG 2013, DOI: 10.1002/humu.22380

  17. In Vitro Secretion Deficits are Common Among Human Coagulation Factor XIII Subunit B Missense Mutants: Correlations with Patient Phenotypes and Molecular Models

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1490–1500, Arijit Biswas, Anne Thomas, Carville G. Bevans, Vytautas Ivaskevicius and Johannes Oldenburg

    Version of Record online : 13 SEP 2013, DOI: 10.1002/humu.22391

  18. General Olfactory Sensitivity Database (GOSdb): Candidate Genes and their Genomic Variations

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 32–41, Ifat Keydar, Edna Ben-Asher, Ester Feldmesser, Noam Nativ, Arisa Oshimoto, Diego Restrepo, Hiroaki Matsunami, Ming-Shan Chien, Jayant M. Pinto, Yoav Gilad, Tsviya Olender and Doron Lancet

    Version of Record online : 11 OCT 2012, DOI: 10.1002/humu.22212

  19. Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

    Human Mutation

    Volume 37, Issue 5, May 2016, Pages: 427–438, D. Sean Froese, Martina Huemer, Terttu Suormala, Patricie Burda, David Coelho, Jean-Louis Guéant, Markus A. Landolt, Viktor Kožich, Brian Fowler and Matthias R. Baumgartner

    Version of Record online : 18 MAR 2016, DOI: 10.1002/humu.22970

  20. Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

    Human Mutation

    Volume 37, Issue 10, October 2016, Pages: 991–1003, Atteeq U. Rehman, Jonathan E. Bird, Rabia Faridi, Mohsin Shahzad, Sujay Shah, Kwanghyuk Lee, Shaheen N. Khan, Ayesha Imtiaz, Zubair M. Ahmed, Saima Riazuddin, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin and Thomas B. Friedman

    Version of Record online : 21 AUG 2016, DOI: 10.1002/humu.23042