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There are 123438 results for: content related to: Exome sequencing in a family segregating for celiac disease

  1. 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

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    The 2015 Annual Meeting of the International Genetic Epidemiology Society

    Genetic Epidemiology

    Volume 39, Issue 7, November 2015, Pages: 529–599,

    Version of Record online : 14 SEP 2015, DOI: 10.1002/gepi.21916

  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. 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

  6. 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

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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

  8. 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

  9. Exome sequencing and the genetics of intellectual disability

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 117–126, S Topper, C Ober and S Das

    Version of Record online : 15 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01720.x

  10. 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

  11. 36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting

    American Journal of Medical Genetics Part A

    Volume 170, Issue 7, July 2016, Pages: 1665–1726, Karen W. Gripp, Margaret P. Adam, Louanne Hudgins and John C. Carey

    Version of Record online : 27 APR 2016, DOI: 10.1002/ajmg.a.37600

  12. 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

  13. 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

  14. 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

  15. 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

  16. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

    Annals of Neurology

    Volume 69, Issue 3, March 2011, Pages: 464–470, Gladys Montenegro, Eric Powell, Jia Huang, Fiorella Speziani, Yvonne J.K. Edwards, Gary Beecham, William Hulme, Carly Siskind, Jeffery Vance, Michael Shy and Stephan Züchner

    Version of Record online : 20 JAN 2011, DOI: 10.1002/ana.22235

  17. 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

  18. 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

  19. wKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders

    Human Mutation

    Volume 36, Issue 5, May 2015, Pages: 496–503, Mulin Jun Li, Jiaen Deng, Panwen Wang, Wanling Yang, Shu Leong Ho, Pak Chung Sham, Junwen Wang and Miaoxin Li

    Version of Record online : 4 APR 2015, DOI: 10.1002/humu.22766

  20. 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