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There are 5908 results for: content related to: Assessing the Enrichment Performance in Targeted Resequencing Experiments

  1. Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1439–1448, Joep de Ligt, Philip M. Boone, Rolph Pfundt, Lisenka E.L.M. Vissers, Todd Richmond, Joel Geoghegan, Kathleen O'Moore, Nicole de Leeuw, Christine Shaw, Han G. Brunner, James R. Lupski, Joris A. Veltman and Jayne Y. Hehir-Kwa

    Article first published online : 30 AUG 2013, DOI: 10.1002/humu.22387

  2. CGH arrays compared for DNA isolated from formalin-fixed, paraffin-embedded material

    Genes, Chromosomes and Cancer

    Volume 51, Issue 4, April 2012, Pages: 344–352, Oscar Krijgsman, Danielle Israeli, Josien C. Haan, Hendrik F. van Essen, Serge J. Smeets, Paul P. Eijk, Renske D. M. Steenbergen, Klaas Kok, Sabine Tejpar, Gerrit A. Meijer and Bauke Ylstra

    Article first published online : 8 DEC 2011, DOI: 10.1002/gcc.21920

  3. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 165–179, Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth S. Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann, Danielle Martinet, Jacques S. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann S. Martin, Suneeta Madan-Khetarpal, Jacqueline Hoover, Livija Medne, Carsten G. Bonnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie C. Banks, David B. Flannery, Carolyn M. Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer L. Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung-Hae L. Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung and Lisa G. Shaffer

    Article first published online : 2 NOV 2011, DOI: 10.1002/humu.21614

  4. You have full text access to this OnlineOpen article
    UBE2QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1650–1661, Naomi C. Wake, Christopher J. Ricketts, Mark R. Morris, Elena Prigmore, Susan M. Gribble, Anne-Bine Skytte, Michael Brown, Noel Clarke, Rosamonde E. Banks, Shirley Hodgson, Andrew S. Turnell, Eamonn R. Maher and Emma R. Woodward

    Article first published online : 7 OCT 2013, DOI: 10.1002/humu.22433

  5. A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 582–586, Michael Volodarsky, Barak Markus, Idan Cohen, Orna Staretz-Chacham, Hagit Flusser, Daniella Landau, Ilan Shelef, Yshaia Langer and Ohad S. Birk

    Article first published online : 20 MAR 2013, DOI: 10.1002/humu.22274

  6. Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 272–280, Marion Phylipsen, Attawut Chaibunruang, Ingrid P. Vogelaar, Jeetindra R. A. Balak, Rianne A. C. Schaap, Yavuz Ariyurek, Supan Fucharoen, Johan T. den Dunnen, Piero C. Giordano, Egbert Bakker and Cornelis L. Harteveld

    Article first published online : 31 OCT 2011, DOI: 10.1002/humu.21612

  7. Targeted re-sequencing of the allohexaploid wheat exome

    Plant Biotechnology Journal

    Volume 10, Issue 6, August 2012, Pages: 733–742, Mark O. Winfield, Paul A. Wilkinson, Alexandra M. Allen, Gary L. A. Barker, Jane A. Coghill, Amanda Burridge, Anthony Hall, Rachael C. Brenchley, Rosalinda D’Amore, Neil Hall, Michael W. Bevan, Todd Richmond, Daniel J. Gerhardt, Jeffrey A. Jeddeloh and Keith J. Edwards

    Article first published online : 17 JUN 2012, DOI: 10.1111/j.1467-7652.2012.00713.x

  8. You have full text access to this OnlineOpen article
    A 129-kb Deletion on Chromosome 12 Confers Substantial Protection Against Rheumatoid Arthritis, Implicating the Gene SLC2A3

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 248–256, Colin D. Veal, Katherine E. Reekie, Johnny C. Lorentzen, Peter K. Gregersen, Leonid Padyukov and Anthony J. Brookes

    Article first published online : 2 DEC 2013, DOI: 10.1002/humu.22471

  9. 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

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    Erratum: Next Generation Genetic Testing for Retinitis Pigmentosa

    Vol. 34, Issue 8, 1181, Article first published online: 12 JUN 2013

  10. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1398–1406, Bernd Wissinger, Simone Schaich, Britta Baumann, Michael Bonin, Herbert Jägle, Christoph Friedburg, Balázs Varsányi, Carel B. Hoyng, Hélène Dollfus, John R. Heckenlively, Thomas Rosenberg, Günter Rudolph, Ulrich Kellner, Roberto Salati, Astrid Plomp, Elfride De Baere, Monika Andrassi-Darida, Alexandra Sauer, Christiane Wolf, Ditta Zobor, Antje Bernd, Bart P. Leroy, Péter Enyedi, Frans P.M. Cremers, Birgit Lorenz, Eberhart Zrenner and Susanne Kohl

    Article first published online : 12 SEP 2011, DOI: 10.1002/humu.21580

  11. High-Resolution Breakpoint Analysis Provides Evidence for the Sequence-Directed Nature of Genome Rearrangements in Hereditary Disorders

    Human Mutation

    Volume 36, Issue 2, February 2015, Pages: 250–259, Michal B. Kovac, Monika Kovacova, Hynek Bachraty, Katarina Bachrata, Salvatore Piscuoglio, Pierre Hutter, Denisa Ilencikova, Zdena Bartosova, Ian Tomlinson, Benno Roethlisberger and Karl Heinimann

    Article first published online : 4 FEB 2015, DOI: 10.1002/humu.22734

  12. Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 446–452, Noriko Miyake, Shoji Yano, Chika Sakai, Hideyuki Hatakeyama, Yuichi Matsushima, Masaaki Shiina, Yoriko Watanabe, James Bartley, Jose E. Abdenur, Raymond Y. Wang, Richard Chang, Yoshinori Tsurusaki, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Kazuhiro Ogata, Yu-ichi Goto and Naomichi Matsumoto

    Article first published online : 29 JAN 2013, DOI: 10.1002/humu.22257

  13. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1417–1426, Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan, Jens E. Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W. Morris, Peter Tormey, Muireann Ní Chróinín, Breandan N. Kennedy, SallyAnn Lynch, Andrew Green and Sean Ennis

    Article first published online : 29 SEP 2011, DOI: 10.1002/humu.21590

  14. Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High-Throughput Sequencing

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1304–1311, Audrey Guilmatre, Gareth Highnam, Christelle Borel, David Mittelman and Andrew J. Sharp

    Article first published online : 17 JUN 2013, DOI: 10.1002/humu.22359

  15. Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes

    Human Mutation

    Volume 35, Issue 11, November 2014, Pages: 1342–1353, Elizabeth K. Flynn, Aparna Kamat, Francis P. Lach, Frank X. Donovan, Danielle C. Kimble, Narisu Narisu, Erica Sanborn, Farid Boulad, Stella M. Davies, Alfred P. Gillio III, Richard E. Harris, Margaret L. MacMillan, John E. Wagner, Agata Smogorzewska, Arleen D. Auerbach, Elaine A. Ostrander and Settara C. Chandrasekharappa

    Article first published online : 28 OCT 2014, DOI: 10.1002/humu.22680

  16. Somatic Alterations Contributing to Metastasis of a Castration-Resistant Prostate Cancer

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1231–1241, Michael L. Nickerson, Kate M. Im, Kevin J. Misner, Wei Tan, Hong Lou, Bert Gold, David W. Wells, Hector C. Bravo, Karin M. Fredrikson, Timothy T. Harkins, Patrice Milos, Berton Zbar, W. Marston Linehan, Meredith Yeager, Thorkell Andresson, Michael Dean and G. Steven Bova

    Article first published online : 3 JUN 2013, DOI: 10.1002/humu.22346

  17. You have free access to this content
    Detection of novel genetic variation in autosomal dominant retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 441–452, E Borràs, M de Sousa Dias, I Hernan, B Pascual, B Mañé, MJ Gamundi, B Delás and M Carballo

    Article first published online : 15 APR 2013, DOI: 10.1111/cge.12151

  18. Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions

    Human Mutation

    Volume 31, Issue 12, December 2010, Pages: 1343–1351, Femke Hannes, Jeroen Van Houdt, Oliver W. Quarrell, Martin Poot, Ron Hochstenbach, Jean-Pierre Fryns and Joris R. Vermeesch

    Article first published online : 16 NOV 2010, DOI: 10.1002/humu.21368

  19. Recurrent HERV-H-Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1415–1423, Andrey Shuvarikov, Ian M. Campbell, Piotr Dittwald, Nicholas J. Neill, Martin G. Bialer, Christine Moore, Patricia G. Wheeler, Stephanie E. Wallace, Mark C. Hannibal, Michael F. Murray, Monica A. Giovanni, Deborah Terespolsky, Sandi Sodhi, Matteo Cassina, David Viskochil, Billur Moghaddam, Kristin Herman, Chester W. Brown, Christine R. Beck, Anna Gambin, Sau Wai Cheung, Ankita Patel, Allen N. Lamb, Lisa G. Shaffer, Jay W. Ellison, J. Britt Ravnan, Paweł Stankiewicz and Jill A. Rosenfeld

    Article first published online : 13 AUG 2013, DOI: 10.1002/humu.22384

  20. Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

    Human Mutation

    Yu Sun, Claudia A.L. Ruivenkamp, Mariëtte J.V. Hoffer, Terry Vrijenhoek, Marjolein Kriek, Christi J. van Asperen, Johan T. den Dunnen and Gijs W.E. Santen

    Article first published online : 17 APR 2015, DOI: 10.1002/humu.22783