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There are 39793 results for: content related to: Exome sequencing expedites disease gene discovery

  1. 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

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    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

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    Next-generation sequencing for mitochondrial disorders

    British Journal of Pharmacology

    Volume 171, Issue 8, April 2014, Pages: 1837–1853, C J Carroll, V Brilhante and A Suomalainen

    Version of Record online : 28 MAR 2014, DOI: 10.1111/bph.12469

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    Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene

    Genes, Chromosomes and Cancer

    Volume 54, Issue 9, September 2015, Pages: 542–554, C. Christofer Juhlin, Adam Stenman, Felix Haglund, Victoria E. Clark, Taylor C. Brown, Jacob Baranoski, Kaya Bilguvar, Gerald Goh, Jenny Welander, Fredrika Svahn, Jill C. Rubinstein, Stefano Caramuta, Katsuhito Yasuno, Murat Günel, Martin Bäckdahl, Oliver Gimm, Peter Söderkvist, Manju L. Prasad, Reju Korah, Richard P. Lifton and Tobias Carling

    Version of Record online : 29 MAY 2015, DOI: 10.1002/gcc.22267

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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

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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

  7. 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

  8. 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

  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. Missing genetic risk in neural tube defects: Can exome sequencing yield an insight?

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 100, Issue 8, August 2014, Pages: 642–646, Deidre R. Krupp, Karen L. Soldano, Melanie E. Garrett, Heidi Cope, Allison E. Ashley-Koch and Simon G. Gregory

    Version of Record online : 21 JUL 2014, DOI: 10.1002/bdra.23276

  11. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 457–461, NA Hanchard, DR Murdock, PL Magoulas, M Bainbridge, D Muzny, YQ Wu, M Wang, AL McGuire, JR Lupski, RA Gibbs and CW Brown

    Version of Record online : 11 SEP 2012, DOI: 10.1111/j.1399-0004.2012.01951.x

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    Patient-tailored analysis of minimal residual disease in acute myeloid leukemia using next-generation sequencing

    European Journal of Haematology

    Volume 98, Issue 1, January 2017, Pages: 26–37, Erik B.R. Malmberg, Sara Ståhlman, Anna Rehammar, Tore Samuelsson, Sofie J. Alm, Erik Kristiansson, Jonas Abrahamsson, Hege Garelius, Louise Pettersson, Mats Ehinger, Lars Palmqvist and Linda Fogelstrand

    Version of Record online : 8 JUN 2016, DOI: 10.1111/ejh.12780

  13. 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

  14. 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

  15. Somatic copy number alterations by whole-exome sequencing implicates YWHAZ and PTK2 in castration-resistant prostate cancer

    The Journal of Pathology

    Volume 231, Issue 4, December 2013, Pages: 505–516, Roopika Menon, Mario Deng, Kerstin Rüenauver, Angela Queisser, Martin Pfeifer, Anne Offermann, Diana Boehm, Wenzel Vogel, Veit Scheble, Falko Fend, Glen Kristiansen, Nicolas Wernert, Nicole Oberbeckmann, Saskia Biskup, Mark A Rubin, Zaki Shaikhibrahim and Sven Perner

    Version of Record online : 12 NOV 2013, DOI: 10.1002/path.4274

  16. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 220–228, I. Filges, E. Nosova, E. Bruder, S. Tercanli, K. Townsend, W.T. Gibson, B. Röthlisberger, K. Heinimann, J.G. Hall, C.Y. Gregory-Evans, W.W. Wasserman, P. Miny and J.M. Friedman

    Version of Record online : 18 NOV 2013, DOI: 10.1111/cge.12301

  17. 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

  18. Strategies for exome and genome sequence data analysis in disease-gene discovery projects

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 127–132, PN Robinson, P Krawitz and S Mundlos

    Version of Record online : 13 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01713.x

  19. Novel genomic techniques open new avenues in the analysis of monogenic disorders

    Human Mutation

    Volume 32, Issue 2, February 2011, Pages: 144–151, Gregor Kuhlenbäumer, Julia Hullmann and Silke Appenzeller

    Version of Record online : 28 JAN 2011, DOI: 10.1002/humu.21400

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    Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

    Prenatal Diagnosis

    Volume 35, Issue 10, October 2015, Pages: 1010–1017, Suzanne Drury, Hywel Williams, Natalie Trump, Christopher Boustred, GOSGene, Nicholas Lench, Richard H. Scott and Lyn S. Chitty

    Version of Record online : 11 SEP 2015, DOI: 10.1002/pd.4675