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There are 21501 results for: content related to: An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

  1. You have full text access to this OnlineOpen article
    Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 815–822, Stefan H. Lelieveld, Malte Spielmann, Stefan Mundlos, Joris A. Veltman and Christian Gilissen

    Version of Record online : 11 JUN 2015, DOI: 10.1002/humu.22813

  2. Whole exome or genome sequencing: nurses need to prepare families for the possibilities

    Journal of Advanced Nursing

    Volume 70, Issue 12, December 2014, Pages: 2736–2745, Cynthia A. Prows, Grace Tran and Beverly Blosser

    Version of Record online : 1 SEP 2014, DOI: 10.1111/jan.12516

  3. Exome sequencing in a family segregating for celiac disease

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 138–147, AM Szperl, I Ricaño-Ponce, JK Li, P Deelen, A Kanterakis, V Plagnol, F van Dijk, HJ Westra, G Trynka, CJ Mulder, M Swertz, C Wijmenga and H Ch Zheng

    Version of Record online : 21 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01714.x

  4. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders

    Annals of the New York Academy of Sciences

    Volume 1366, Issue 1, February 2016, Pages: 49–60, Brent L. Fogel, Hane Lee, Samuel P. Strom, Joshua L. Deignan and Stanley F. Nelson

    Version of Record online : 6 AUG 2015, DOI: 10.1111/nyas.12850

  5. You have full text access to this OnlineOpen article
    Open pipelines for integrated tumor genome profiles reveal differences between pancreatic cancer tumors and cell lines

    Cancer Medicine

    Volume 4, Issue 3, March 2015, Pages: 392–403, Jeremy Goecks, Bassel F. El-Rayes, Shishir K. Maithel, H. Jean Khoury, James Taylor and Michael R. Rossi

    Version of Record online : 4 JAN 2015, DOI: 10.1002/cam4.360

  6. Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress

    Clinical Genetics

    Volume 87, Issue 4, April 2015, Pages: 319–326, A.S. Sie, J.B. Prins, W.A.G. van Zelst-Stams, J.A. Veltman, I. Feenstra and N. Hoogerbrugge

    Version of Record online : 22 JUN 2014, DOI: 10.1111/cge.12433

  7. Autozygosity Mapping with Exome Sequence Data

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 50–56, Ian M. Carr, Sanjeev Bhaskar, James O’ Sullivan, Mohammed A. Aldahmesh, Hanan E. Shamseldin, Alexander F. Markham, David T. Bonthron, Graeme Black and Fowzan S. Alkuraya

    Version of Record online : 22 OCT 2012, DOI: 10.1002/humu.22220

  8. Exome sequencing is an efficient tool for genetic screening of Charcot–Marie–Tooth Disease

    Human Mutation

    Volume 33, Issue 11, November 2012, Pages: 1610–1615, Byung-Ok Choi, Soo Kyung Koo, Mi-Hyun Park, Hwanseok Rhee, Song-Ju Yang, Kyoung-Gyu Choi, Sung-Chul Jung, Han Su Kim, Young Se Hyun, Khriezhanuo Nakhro, Hye Jin Lee, Hae-Mi Woo and Ki Wha Chung

    Version of Record online : 5 JUL 2012, DOI: 10.1002/humu.22143

  9. You have free access to this content
    Detecting false-positive signals in exome sequencing

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 609–613, Karin V. Fuentes Fajardo, David Adams, NISC Comparative Sequencing Program, Christopher E. Mason, Murat Sincan, Cynthia Tifft, Camilo Toro, Cornelius F Boerkoel, William Gahl and Thomas Markello

    Version of Record online : 5 MAR 2012, DOI: 10.1002/humu.22033

  10. 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

  11. You have full text access to this OnlineOpen article
    Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 823–830, Christopher M. Watson, Laura A. Crinnion, Juliana Gurgel-Gianetti, Sally M. Harrison, Catherine Daly, Agne Antanavicuite, Carolina Lascelles, Alexander F. Markham, Sergio D. J. Pena, David T. Bonthron and Ian M. Carr

    Version of Record online : 22 JUL 2015, DOI: 10.1002/humu.22818

  12. Prenatal whole-exome sequencing: parental attitudes

    Prenatal Diagnosis

    Volume 35, Issue 10, October 2015, Pages: 1030–1036, Eve J. Kalynchuk, Andrew Althouse, Lisa S. Parker, Devereux N. Saller Jr. and Aleksandar Rajkovic

    Version of Record online : 6 JUL 2015, DOI: 10.1002/pd.4635

  13. A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1721–1726, Kornelia Neveling, Ilse Feenstra, Christian Gilissen, Lies H. Hoefsloot, Erik-Jan Kamsteeg, Arjen R. Mensenkamp, Richard J. T. Rodenburg, Helger G. Yntema, Liesbeth Spruijt, Sascha Vermeer, Tuula Rinne, Koen L. van Gassen, Danielle Bodmer, Dorien Lugtenberg, Rick de Reuver, Wendy Buijsman, Ronny C. Derks, Nienke Wieskamp, Bert van den Heuvel, Marjolijn J.L. Ligtenberg, Hannie Kremer, David A. Koolen, Bart P.C. van de Warrenburg, Frans P.M. Cremers, Carlo L.M. Marcelis, Jan A.M. Smeitink, Saskia B. Wortmann, Wendy A.G. van Zelst-Stams, Joris A. Veltman, Han G. Brunner, Hans Scheffer and Marcel R. Nelen

    Version of Record online : 18 OCT 2013, DOI: 10.1002/humu.22450

  14. Exome sequencing in Parkinson's disease

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 104–109, JM Bras and AB Singleton

    Version of Record online : 16 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01722.x

  15. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 29, Issue S1, May 2014, Pages: S1–S571,

    Version of Record online : 6 JUN 2014, DOI: 10.1002/mds.25914

  16. Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 105–116, Juan L. Rodriguez-Flores, Khalid Fakhro, Neil R. Hackett, Jacqueline Salit, Jennifer Fuller, Francisco Agosto-Perez, Maey Gharbiah, Joel A. Malek, Mahmoud Zirie, Amin Jayyousi, Ramin Badii, Ajayeb Al-Nabet Al-Marri, Lotfi Chouchane, Dora J. Stadler, Jason G. Mezey and Ronald G. Crystal

    Version of Record online : 10 NOV 2013, DOI: 10.1002/humu.22460

  17. You have free access to this content
    Whole genome/exome sequencing in mood and psychotic disorders

    Psychiatry and Clinical Neurosciences

    Volume 69, Issue 2, February 2015, Pages: 65–76, Tadafumi Kato

    Version of Record online : 9 NOV 2014, DOI: 10.1111/pcn.12247

  18. 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1685–1740, Stephen R. Braddock, Robert J. Lipinski, Marc S. Williams and John C. Carey

    Version of Record online : 22 MAY 2015, DOI: 10.1002/ajmg.a.37107

  19. You have free access to this content
    Analysis of DNA sequence variants detected by high-throughput sequencing

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 599–608, David R. Adams, Murat Sincan, Karin Fuentes Fajardo, James C. Mullikin, Tyler M. Pierson, Camilo Toro, Cornelius F. Boerkoel, Cynthia J. Tifft, William A. Gahl and Tom C. Markello

    Version of Record online : 28 FEB 2012, DOI: 10.1002/humu.22035

  20. You have free access to this content
    Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?

    Prenatal Diagnosis

    Volume 36, Issue 1, January 2016, Pages: 15–19, Lyn S. Chitty, Jan M. Friedman and Sylvie Langlois

    Version of Record online : 22 NOV 2015, DOI: 10.1002/pd.4718