Search Results

There are 5599 results for: content related to: NGS catalog: A database of next generation sequencing studies in humans

VIEW

  1. 1 - 20
  2. 21 - 40
  3. 41 - 60
  4. 61 - 80
  5. Next >
  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

    Article first published online : 28 FEB 2012, DOI: 10.1002/humu.22032

  2. Variations in the exome of the LNCaP prostate cancer cell line

    The Prostate

    Volume 72, Issue 12, 1 September 2012, Pages: 1317–1327, Lien Spans, Zeynep Kalender Atak, Filip Van Nieuwerburgh, Dieter Deforce, Evelyne Lerut, Stein Aerts and Frank Claessens

    Article first published online : 27 DEC 2011, DOI: 10.1002/pros.22480

  3. Prioritization of Retinal Disease Genes: An Integrative Approach

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 853–859, Alex H. Wagner, Kyle R. Taylor, Adam P. DeLuca, Thomas L. Casavant, Robert F. Mullins, Edwin M. Stone, Todd E. Scheetz and Terry A. Braun

    Article first published online : 12 APR 2013, DOI: 10.1002/humu.22317

  4. Next-generation sequencing: ready for the clinics?

    Clinical Genetics

    Volume 81, Issue 6, June 2012, Pages: 503–510, AN Desai and A Jere

    Article first published online : 9 APR 2012, DOI: 10.1111/j.1399-0004.2012.01865.x

  5. You have free access to this content
    Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers

    The Journal of Pathology

    Volume 226, Issue 1, January 2012, Pages: 7–16, Stephen Yip, Yaron S Butterfield, Olena Morozova, Suganthi Chittaranjan, Michael D Blough, Jianghong An, Inanc Birol, Charles Chesnelong, Readman Chiu, Eric Chuah, Richard Corbett, Rod Docking, Marlo Firme, Martin Hirst, Shaun Jackman, Aly Karsan, Haiyan Li, David N Louis, Alexandra Maslova, Richard Moore, Annie Moradian, Karen L Mungall, Marco Perizzolo, Jenny Qian, Gloria Roldan, Eric E Smith, Jessica Tamura-Wells, Nina Thiessen, Richard Varhol, Samuel Weiss, Wei Wu, Sean Young, Yongjun Zhao, Andrew J Mungall, Steven JM Jones, Gregg B Morin, Jennifer A Chan, J Gregory Cairncross and Marco A Marra

    Article first published online : 10 NOV 2011, DOI: 10.1002/path.2995

  6. 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

    Article first published online : 28 FEB 2012, DOI: 10.1002/humu.22035

  7. You have free access to this content
    Exome and genome analysis as a tool for disease identification and treatment: The 2011 human genome variation society scientific meeting

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: 586–590, William S. Oetting

    Article first published online : 31 JAN 2012, DOI: 10.1002/humu.22018

  8. You have free access to this content
    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

    Article first published online : 22 OCT 2012, DOI: 10.1002/humu.22220

  9. Assessing the Enrichment Performance in Targeted Resequencing Experiments

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 635–641, Peter Frommolt, Ali T. Abdallah, Janine Altmüller, Susanne Motameny, Holger Thiele, Christian Becker, Kathryn Stemshorn, Matthias Fischer, Tobias Freilinger and Peter Nürnberg

    Article first published online : 28 FEB 2012, DOI: 10.1002/humu.22036

  10. You have free access to this content
    Resolving the variable genome and epigenome in human disease

    Journal of Internal Medicine

    Volume 271, Issue 4, April 2012, Pages: 379–391, J. C. Knight

    Article first published online : 23 MAR 2012, DOI: 10.1111/j.1365-2796.2011.02508.x

  11. Reviewing the somatic genetics of melanoma: from current to future analytical approaches

    Pigment Cell & Melanoma Research

    Volume 25, Issue 2, March 2012, Pages: 144–154, Ken Dutton-Regester and Nicholas K. Hayward

    Article first published online : 13 FEB 2012, DOI: 10.1111/j.1755-148X.2012.00975.x

  12. You have full text access to this OnlineOpen article
    Next-generation genetic testing for retinitis pigmentosa

    Human Mutation

    Volume 33, Issue 6, June 2012, Pages: 963–972, Kornelia Neveling, Rob W.J. Collin, Christian Gilissen, Ramon A.C. van Huet, Linda Visser, Michael P. Kwint, Sabine J. Gijsen, Marijke N. Zonneveld, Nienke Wieskamp, Joep de Ligt, Anna M. Siemiatkowska, Lies H. Hoefsloot, Michael F. Buckley, Ulrich Kellner, Kari E. Branham, Anneke I. den Hollander, Alexander Hoischen, Carel Hoyng, B. Jeroen Klevering, L. Ingeborgh van den Born, Joris A. Veltman, Frans P.M. Cremers and Hans Scheffer

    Article first published online : 19 MAR 2012, DOI: 10.1002/humu.22045

  13. You have free access to this content
    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

    Article first published online : 15 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01720.x

  14. You have free access to this content
    Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility

    Human Mutation

    Volume 33, Issue 12, December 2012, Pages: 1635–1638, Cheng Bi, Jinyu Wu, Tao Jiang, Qi Liu, Wanshi Cai, Ping Yu, Tao Cai, Mei Zhao, Yong-hui Jiang and Zhong Sheng Sun

    Article first published online : 24 AUG 2012, DOI: 10.1002/humu.22174

  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

    Article first published online : 5 JUL 2012, DOI: 10.1002/humu.22143

  16. Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

    Human Mutation

    Ian M. Carr, Joanne Morgan, Christopher Watson, Svitlana Melnik, Christine P. Diggle, Clare V. Logan, Sally M. Harrison, Graham R. Taylor, Sergio D.J. Pena, Alexander F. Markham, Fowzan S. Alkuraya, Graeme C.M. Black, Manir Ali and David T. Bonthron

    Article first published online : 29 APR 2013, DOI: 10.1002/humu.22322

  17. Exome Resequencing Identifies Potential Tumor-Suppressor Genes that Predispose to Colorectal Cancer

    Human Mutation

    Christopher G. Smith, Marc Naven, Rebecca Harris, James Colley, Hannah West, Ning Li, Yuan Liu, Richard Adams, Timothy S. Maughan, Laura Nichols, Richard Kaplan, Michael J. Wagner, Howard L. McLeod and Jeremy P. Cheadle

    Article first published online : 20 MAY 2013, DOI: 10.1002/humu.22333

  18. From a Single Whole Exome Read to Notions of Clinical Screening: Primary Ciliary Dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula

    Annals of Human Genetics

    Volume 76, Issue 3, May 2012, Pages: 211–220, Muslim M. AlSaadi, Tom R. Gaunt, Christopher R. Boustred, Philip A. I. Guthrie, Xuan Liu, Luca Lenzi, Lucille Rainbow, Neil Hall, Khalid K. Alharbi and Ian N. M. Day

    Article first published online : 2 MAR 2012, DOI: 10.1111/j.1469-1809.2012.00704.x

  19. 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

    Article first published online : 5 MAR 2012, DOI: 10.1002/humu.22033

  20. Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 269–273, M Li, SYY Pang, Y Song, MHW Kung, S-L Ho and P-C Sham

    Article first published online : 29 MAY 2012, DOI: 10.1111/j.1399-0004.2012.01895.x

VIEW

  1. 1 - 20
  2. 21 - 40
  3. 41 - 60
  4. 61 - 80
  5. Next >