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There are 8183998 results for: content related to: Exome sequencing for gene discovery: Time to set standard criteria

  1. 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

  2. Exome sequencing for gene discovery: Time does not stand still

    Annals of Neurology

    Volume 72, Issue 4, October 2012, Pages: 628–629, Mark S. LeDoux

    Version of Record online : 29 OCT 2012, DOI: 10.1002/ana.23660

  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

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    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

  6. A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery

    Human Mutation

    Volume 37, Issue 9, September 2016, Pages: 835–846, Madison R. Chandler, Erin P. Bilgili and Nancy D. Merner

    Version of Record online : 27 JUN 2016, DOI: 10.1002/humu.23017

  7. Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes

    Prenatal Diagnosis

    Volume 35, Issue 10, October 2015, Pages: 1005–1009, Isabel Filges and Jan M. Friedman

    Version of Record online : 22 AUG 2014, DOI: 10.1002/pd.4464

  8. 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

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    Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

    Clinical Endocrinology

    Volume 80, Issue 1, January 2014, Pages: 25–33, Aideen M. McInerney-Leo, Mhairi S. Marshall, Brooke Gardiner, Diana E. Benn, Janelle McFarlane, Bruce G. Robinson, Matthew A. Brown, Paul J. Leo, Roderick J. Clifton-Bligh and Emma L. Duncan

    Version of Record online : 25 OCT 2013, DOI: 10.1111/cen.12331

  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

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    NGS catalog: A database of next generation sequencing studies in humans

    Human Mutation

    Volume 33, Issue 6, June 2012, Pages: E2341–E2355, Junfeng Xia, Qingguo Wang, Peilin Jia, Bing Wang, William Pao and Zhongming Zhao

    Version of Record online : 19 APR 2012, DOI: 10.1002/humu.22096

  12. 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

  13. 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

  14. You have full text access to this OnlineOpen article
    Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 288–290, F Ariani, F Mari, S Amitrano, C Di Marco, R Artuso, E Scala, I Meloni, R Della Volpe, A Rossi, H van Bokhoven and A Renieri

    Version of Record online : 23 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01901.x

  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. 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

  17. Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 598–600, M. He, B.-S. Tang, N. Li, X. Mao, J. Li, J.-G. Zhang, J.-J. Xiao, J. Wang, H. Jiang, L. Shen, J.-F. Guo, K. Xia and J.-L. Wang

    Version of Record online : 13 MAR 2014, DOI: 10.1111/cge.12338

  18. 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

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    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

  20. 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