Search Results

There are 42957 results for: content related to: Systematic Detection of Pathogenic Alu Element Insertions in NGS -Based Diagnostic Screens: The BRCA1 / BRCA2 Example

  1. Noncoding RNA: Current Deep Sequencing Data Analysis Approaches and Challenges

    Human Mutation

    Dario Veneziano, Sebastiano Di Bella, Giovanni Nigita, Alessandro Laganà, Afredo Ferro and Carlo M. Croce

    Version of Record online : 5 SEP 2016, DOI: 10.1002/humu.23066

  2. Prioritizing Disease-Linked Variants, Genes, and Pathways with an Interactive Whole-Genome Analysis Pipeline

    Human Mutation

    Volume 35, Issue 5, May 2014, Pages: 537–547, In-Hee Lee, Kyungjoon Lee, Michael Hsing, Yongjoon Choe, Jin-Ho Park, Shu Hee Kim, Justin M. Bohn, Matthew B. Neu, Kyu-Baek Hwang, Robert C. Green, Isaac S. Kohane and Sek Won Kong

    Version of Record online : 6 MAR 2014, DOI: 10.1002/humu.22520

  3. 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

  4. You have free access to this content
    Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 766–778, Thierry Soussi, Bernard Leroy and Peter E.M. Taschner

    Version of Record online : 6 MAY 2014, DOI: 10.1002/humu.22561

  5. 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

  6. You have full text access to this OnlineOpen article
    Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1322–1328, Tessel Rigter, Lidewij Henneman, Ulf Kristoffersson, Alison Hall, Helger G. Yntema, Pascal Borry, Holger Tönnies, Quinten Waisfisz, Mariet W. Elting, Wybo J. Dondorp and Martina C. Cornel

    Version of Record online : 16 JUL 2013, DOI: 10.1002/humu.22370

  7. Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 1–13, Stuart Cantsilieris and Stefan J. White

    Version of Record online : 23 AUG 2012, DOI: 10.1002/humu.22172

  8. 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

  9. You have full text access to this OnlineOpen article
    Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 903–914, Eric Samorodnitsky, Benjamin M. Jewell, Raffi Hagopian, Jharna Miya, Michele R. Wing, Ezra Lyon, Senthilkumar Damodaran, Darshna Bhatt, Julie W. Reeser, Jharna Datta and Sameek Roychowdhury

    Version of Record online : 15 JUL 2015, DOI: 10.1002/humu.22825

  10. Jannovar: A Java Library for Exome Annotation

    Human Mutation

    Volume 35, Issue 5, May 2014, Pages: 548–555, Marten Jäger, Kai Wang, Sebastian Bauer, Damian Smedley, Peter Krawitz and Peter N. Robinson

    Version of Record online : 9 APR 2014, DOI: 10.1002/humu.22531

  11. You have free access to this content
    Mutant TP53 Posttranslational Modifications: Challenges and Opportunities

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 738–755, Thuy-Ai Nguyen, Daniel Menendez, Michael A. Resnick and Carl W. Anderson

    Version of Record online : 11 FEB 2014, DOI: 10.1002/humu.22506

  12. TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 812–826, Serena Lattante, Guy A. Rouleau and Edor Kabashi

    Version of Record online : 29 APR 2013, DOI: 10.1002/humu.22319

  13. A Rising Titan: TTN Review and Mutation Update

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1046–1059, Claire Chauveau, John Rowell and Ana Ferreiro

    Version of Record online : 21 JUL 2014, DOI: 10.1002/humu.22611

  14. You have full text access to this OnlineOpen article
    The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1200–1207, Catharine E. Krebs, Siamak Karkheiran, James C. Powell, Mian Cao, Vladimir Makarov, Hossein Darvish, Gilbert Di Paolo, Ruth H. Walker, Gholam Ali Shahidi, Joseph D. Buxbaum, Pietro De Camilli, Zhenyu Yue and Coro Paisán-Ruiz

    Version of Record online : 19 JUL 2013, DOI: 10.1002/humu.22372

  15. An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 417–429, Zeynep Tümer

    Version of Record online : 18 FEB 2013, DOI: 10.1002/humu.22266

  16. An MLPA-Based Strategy for Discrete CNV Genotyping: CNV-miRNAs as an Example

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 763–773, Malgorzata Marcinkowska-Swojak, Barbara Uszczynska, Marek Figlerowicz and Piotr Kozlowski

    Version of Record online : 8 MAR 2013, DOI: 10.1002/humu.22288

  17. New Directions in Gaucher Disease

    Human Mutation

    Mia Horowitz, Deborah Elstein, Ari Zimran and Ozlem Goker-Alpan

    Version of Record online : 21 AUG 2016, DOI: 10.1002/humu.23056

  18. Prediction of the Repeat Domain Structures and Impact of Parkinsonism-Associated Variations on Structure and Function of all Functional Domains of Leucine-Rich Repeat Kinase 2 (LRRK2)

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 395–412, Ryan D. Mills, Terrence D. Mulhern, Fei Liu, Janetta G. Culvenor and Heung-Chin Cheng

    Version of Record online : 24 FEB 2014, DOI: 10.1002/humu.22515

  19. Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 151–164, Lucia Guidugli, Aura Carreira, Sandrine M. Caputo, Asa Ehlen, Alvaro Galli, Alvaro N.A. Monteiro, Susan L. Neuhausen, Thomas V.O. Hansen, Fergus J. Couch, Maaike P.G. Vreeswijk and ; on behalf of the ENIGMA consortium

    Version of Record online : 3 DEC 2013, DOI: 10.1002/humu.22478

  20. You have full text access to this OnlineOpen article
    Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 57–65, Hashem A. Shihab, Julian Gough, David N. Cooper, Peter D. Stenson, Gary L. A. Barker, Keith J. Edwards, Ian N. M. Day and Tom R. Gaunt

    Version of Record online : 2 NOV 2012, DOI: 10.1002/humu.22225