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There are 14328 results for: content related to: Changing the game with whole exome sequencing

  1. 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

    Article first published online : 28 MAR 2014, DOI: 10.1111/bph.12469

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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

    Article first published online : 25 OCT 2013, DOI: 10.1111/cen.12331

  3. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 213–222, H Carmichael, Y Shen, TT Nguyen, JN Hirschhorn and A Dauber

    Article first published online : 20 DEC 2012, DOI: 10.1111/cge.12064

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    Exome sequencing in Parkinson's disease

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 104–109, JM Bras and AB Singleton

    Article first published online : 16 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01722.x

  5. 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

    Article first published online : 12 APR 2014, DOI: 10.1111/cge.12379

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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

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

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    Barley whole exome capture: a tool for genomic research in the genus Hordeum and beyond

    The Plant Journal

    Volume 76, Issue 3, November 2013, Pages: 494–505, Martin Mascher, Todd A. Richmond, Daniel J. Gerhardt, Axel Himmelbach, Leah Clissold, Dharanya Sampath, Sarah Ayling, Burkhard Steuernagel, Matthias Pfeifer, Mark D'Ascenzo, Eduard D. Akhunov, Pete E. Hedley, Ana M. Gonzales, Peter L. Morrell, Benjamin Kilian, Frank R. Blattner, Uwe Scholz, Klaus F.X. Mayer, Andrew J. Flavell, Gary J. Muehlbauer, Robbie Waugh, Jeffrey A. Jeddeloh and Nils Stein

    Article first published online : 24 AUG 2013, DOI: 10.1111/tpj.12294

  8. Whole exome sequencing identifies a novel DFNA9 mutation, C162Y

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 477–481, J Gao, J Xue, Li Chen, X Ke, Y Qi and Y Liu

    Article first published online : 4 OCT 2012, DOI: 10.1111/cge.12006

  9. Genome sequencing of mucosal melanomas reveals that they are driven by distinct mechanisms from cutaneous melanoma

    The Journal of Pathology

    Volume 230, Issue 3, July 2013, Pages: 261–269, Simon J Furney, Samra Turajlic, Gordon Stamp, Mahrokh Nohadani, Anna Carlisle, J Meirion Thomas, Andrew Hayes, Dirk Strauss, Martin Gore, Joost van den Oord, James Larkin and Richard Marais

    Article first published online : 7 JUN 2013, DOI: 10.1002/path.4204

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    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

    Article first published online : 13 NOV 2013, DOI: 10.1002/humu.22451

  11. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1450–1459, Xia Wang, Hui Wang, Ming Cao, Zhe Li, Xianfeng Chen, Claire Patenia, Athurva Gore, Emad B. Abboud, Ali A. Al-Rajhi, Richard A. Lewis, James R. Lupski, Graeme Mardon, Kun Zhang, Donna Muzny, Richard A. Gibbs and Rui Chen

    Article first published online : 23 SEP 2011, DOI: 10.1002/humu.21587

  12. Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy–Walker Malformation and Occipital Cephaloceles

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1075–1079, Benjamin W. Darbro, Vinit B. Mahajan, Lokesh Gakhar, Jessica M. Skeie, Elizabeth Campbell, Shu Wu, Xinyu Bing, Kathleen J. Millen, William B. Dobyns, John A. Kessler, Ali Jalali, James Cremer, Alberto Segre, J. Robert Manak, Kimerbly A. Aldinger, Satoshi Suzuki, Nagato Natsume, Maya Ono, Huynh Dai Hai, Le Thi Viet, Sara Loddo, Enza M. Valente, Laura Bernardini, Nitin Ghonge, Polly J. Ferguson and Alexander G. Bassuk

    Article first published online : 28 MAY 2013, DOI: 10.1002/humu.22351

  13. 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

  14. Regularized Rare Variant Enrichment Analysis for Case-Control Exome Sequencing Data

    Genetic Epidemiology

    Volume 38, Issue 2, February 2014, Pages: 104–113, Nicholas B. Larson and Daniel J. Schaid

    Article first published online : 30 DEC 2013, DOI: 10.1002/gepi.21783

  15. Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 134–141, S. Fahiminiya, M. Almuriekhi, Z. Nawaz, A. Staffa, P. Lepage, R. Ali, L. Hashim, J. Schwartzentruber, K. Abu Khadija, S. Zaineddin, H. Gamal, J. Majewski and T. Ben-Omran

    Article first published online : 13 OCT 2013, DOI: 10.1111/cge.12280

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    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

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    DIAMUND: Direct Comparison of Genomes to Detect Mutations

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 283–288, Steven L. Salzberg, Mihaela Pertea, Jill A. Fahrner and Nara Sobreira

    Article first published online : 13 FEB 2014, DOI: 10.1002/humu.22503

  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

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

  19. Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients

    Clinical & Experimental Ophthalmology

    Ivan Prokudin, Dong Li, Sijie He, Yiran Guo, Linda Goodwin, Meredith Wilson, Loreto Rose, Lifeng Tian, Yulan Chen, Jinlong Liang, Brendan Keating, Xun Xu, Robyn V Jamieson and Hakon Hakonarson

    Article first published online : 2 OCT 2014, DOI: 10.1111/ceo.12391

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    Brief Report: Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome

    Arthritis & Rheumatology

    Volume 66, Issue 1, January 2014, Pages: 197–202, Ebun Omoyinmi, Sónia Melo Gomes, Ariane Standing, Dorota M. Rowczenio, Despina Eleftheriou, Nigel Klein, Juan I. Aróstegui, Helen J. Lachmann, Philip N. Hawkins and Paul A. Brogan

    Article first published online : 30 DEC 2013, DOI: 10.1002/art.38217