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There are 20877 results for: content related to: Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

  1. You have free access to this content
    An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 614–626, Cristina Dias, Murat Sincan, Praveen F. Cherukuri, Rosemarie Rupps, Yan Huang, Hannah Briemberg, Kathryn Selby, James C. Mullikin, Thomas C. Markello, David R. Adams, William A. Gahl and Cornelius F. Boerkoel

    Version of Record online : 28 FEB 2012, DOI: 10.1002/humu.22032

  2. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 30, Issue S1, June 2015, Pages: S1–S567,

    Version of Record online : 12 JUN 2015, DOI: 10.1002/mds.26295

  3. 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

  4. 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

  5. An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models

    Movement Disorders Clinical Practice

    Volume 2, Issue 3, September 2015, Pages: 213–223, Kishore R. Kumar, Nicholas F. Blair and Carolyn M. Sue

    Version of Record online : 2 JUN 2015, DOI: 10.1002/mdc3.12184

  6. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 27, Issue S1, June 2012, Pages: S1–S523,

    Version of Record online : 19 JUN 2012, DOI: 10.1002/mds.25051

  7. You have free access to this content
    Poster Session

    Movement Disorders

    Volume 31, Issue S2, June 2016, Pages: S1–S697,

    Version of Record online : 19 JUN 2016, DOI: 10.1002/mds.26688

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    Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

    Prenatal Diagnosis

    Volume 35, Issue 11, November 2015, Pages: 1073–1078, Christina L. Alamillo, Zöe Powis, Kelly Farwell, Layla Shahmirzadi, Elaine C. Weltmer, John Turocy, Thomas Lowe, Christine Kobelka, Emily Chen, Donald Basel, Elena Ashkinadze, Lisa D'Augelli, Elizabeth Chao and Sha Tang

    Version of Record online : 3 AUG 2015, DOI: 10.1002/pd.4648

  9. 2015 Peripheral Nerve Society Biennial Meeting

    Journal of the Peripheral Nervous System

    Volume 20, Issue 2, June 2015, Pages: 88–253,

    Version of Record online : 21 AUG 2015, DOI: 10.1111/jns.12129

  10. Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 120–126, J.C. Sapp, D. Dong, C. Stark, L.E. Ivey, G. Hooker, L.G. Biesecker and B.B. Biesecker

    Version of Record online : 20 SEP 2013, DOI: 10.1111/cge.12254

  11. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 475–481, B. Deml, L.M. Reis, M. Maheshwari, C. Griffis, D. Bick and E.V. Semina

    Version of Record online : 12 APR 2014, DOI: 10.1111/cge.12379

  12. 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

  13. 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

  14. 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

  15. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 550–557, A.M. McInerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, F. McKenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl and E.L. Duncan

    Version of Record online : 17 FEB 2015, DOI: 10.1111/cge.12550

  16. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 468–473, A.M. Slavotinek, S.T. Garcia, G. Chandratillake, T. Bardakjian, E. Ullah, D. Wu, K. Umeda, R. Lao, P.L.-F. Tang, E. Wan, L. Madireddy, S. Lyalina, B.A. Mendelsohn, S. Dugan, J. Tirch, R. Tischler, J. Harris, M.J. Clark, S. Chervitz, A. Patwardhan, J.M. West, P. Ursell, A. de Alba Campomanes, A. Schneider, P.-y. Kwok, S. Baranzini and R.O. Chen

    Version of Record online : 6 JAN 2015, DOI: 10.1111/cge.12543

  17. 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

    Version of Record online : 13 NOV 2013, DOI: 10.1002/humu.22451

  18. Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 441–449, R.J. Pengelly, R. Upstill-Goddard, L. Arias, J. Martinez, J. Gibson, M. Knut, A.L. Collins, S. Ennis, A. Collins and I. Briceno

    Version of Record online : 6 JAN 2015, DOI: 10.1111/cge.12547

  19. 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

  20. You have full text access to this OnlineOpen article
    Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1135–1144, Nick Dand, Reiner Schulz, Michael E. Weale, Laura Southgate, Rebecca J. Oakey, Michael A. Simpson and Thomas Schlitt

    Version of Record online : 7 OCT 2015, DOI: 10.1002/humu.22906