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There are 13902 results for: content related to: Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics

  1. You have free access to this content
    Diagnostic interpretation of array data using public databases and internet sources

    Human Mutation

    Volume 33, Issue 6, June 2012, Pages: 930–940, Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y. Hehir-Kwa, Nigel P. Carter, Lars Feuk, Helen V. Firth, Robert M. Kuhn, David H. Ledbetter, Christa Lese Martin, Conny M. A. van Ravenswaaij-Arts, Steven W. Scherer, Soheil Shams, Steven Van Vooren, Rolf Sijmons, Morris Swertz and Ros Hastings

    Version of Record online : 7 MAY 2012, DOI: 10.1002/humu.22049

  2. Gene copy number variation and common human disease

    Clinical Genetics

    Volume 77, Issue 3, March 2010, Pages: 201–213, M Fanciulli, E Petretto and TJ Aitman

    Version of Record online : 10 DEC 2009, DOI: 10.1111/j.1399-0004.2009.01342.x

  3. The genetic variability and commonality of neurodevelopmental disease

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 2, 15 May 2012, Pages: 118–129, Bradley P. Coe, Santhosh Girirajan and Evan E. Eichler

    Version of Record online : 12 APR 2012, DOI: 10.1002/ajmg.c.31327

  4. You have free access to this content
    Pathogenic or not? Assessing the clinical relevance of copy number variants

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 415–421, JY Hehir-Kwa, R Pfundt, JA Veltman and N de Leeuw

    Version of Record online : 21 AUG 2013, DOI: 10.1111/cge.12242

  5. Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 100, Issue 12, December 2014, Pages: 951–964, Peter S. White, Hongbo M. Xie, Petra Werner, Joseph Glessner, Brande Latney, Hakon Hakonarson and Elizabeth Goldmuntz

    Version of Record online : 26 JUL 2014, DOI: 10.1002/bdra.23279

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    The introduction of arrays in prenatal diagnosis: A special challenge

    Human Mutation

    Volume 33, Issue 6, June 2012, Pages: 923–929, Annalisa Vetro, Katelijne Bouman, Ros Hastings, Dominic J. McMullan, Joris R. Vermeesch, Konstantin Miller, Birgit Sikkema-Raddatz, David H. Ledbetter, Orsetta Zuffardi and Conny M.A. van Ravenswaaij-Arts

    Version of Record online : 16 APR 2012, DOI: 10.1002/humu.22050

  7. SgD-CNV, a database for common and rare copy number variants in three Asian populations

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1341–1349, Haiyan Xu, Wan-Ting Poh, Xueling Sim, Rick Twee-Hee Ong, Chen Suo, Wan-Ting Tay, Chiea-Chuen Khor, Mark Seielstad, Jianjun Liu, Tin Aung, E-Shyong Tai, Tien-Yin Wong, Kee-Seng Chia and Yik-Ying Teo

    Version of Record online : 30 SEP 2011, DOI: 10.1002/humu.21601

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    Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders

    Human Mutation

    Volume 33, Issue 5, May 2012, Pages: 874–883, Hannah Boulding and Caleb Webber

    Version of Record online : 6 APR 2012, DOI: 10.1002/humu.22069

  9. Clinical Significance of De Novo and Inherited Copy-Number Variation

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1679–1687, Anneke T. Vulto-van Silfhout, Jayne Y. Hehir-Kwa, Bregje W.M. van Bon, Janneke H.M. Schuurs-Hoeijmakers, Stephen Meader, Claudia J.M. Hellebrekers, Ilse J.M. Thoonen, Arjan P.M. de Brouwer, Han G. Brunner, Caleb Webber, Rolph Pfundt, Nicole de Leeuw and Bert B.A. de Vries

    Version of Record online : 10 OCT 2013, DOI: 10.1002/humu.22442

  10. You have free access to this content
    Epilepsy and the new cytogenetics

    Epilepsia

    Volume 52, Issue 3, March 2011, Pages: 423–432, John C. Mulley and Heather C. Mefford

    Version of Record online : 26 JAN 2011, DOI: 10.1111/j.1528-1167.2010.02932.x

  11. 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

    Version of Record online : 30 AUG 2013, DOI: 10.1002/humu.22387

  12. You have free access to this content
    Segmental Copy-Number Variation Observed in Japanese by Array-CGH

    Annals of Human Genetics

    Volume 72, Issue 2, March 2008, Pages: 193–204, N. Takahashi, N. Tsuyama, K. Sasaki, M. Kodaira, Y. Satoh, Y. Kodama, K. Sugita and H. Katayama

    Version of Record online : 20 JAN 2008, DOI: 10.1111/j.1469-1809.2007.00415.x

  13. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1427–1435, Roxana Kariminejad, Allan Lind-Thomsen, Zeynep Tümer, Fikret Erdogan, Hans H. Ropers, Niels Tommerup, Reinhard Ullmann and Rikke S. Møller

    Version of Record online : 23 SEP 2011, DOI: 10.1002/humu.21585

  14. Copy number variation in the genomes of domestic animals

    Animal Genetics

    Volume 43, Issue 5, October 2012, Pages: 503–517, A. Clop, O. Vidal and M. Amills

    Version of Record online : 6 MAR 2012, DOI: 10.1111/j.1365-2052.2012.02317.x

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    Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

    BJOG: An International Journal of Obstetrics & Gynaecology

    Volume 120, Issue 5, April 2013, Pages: 594–606, D Ganesamoorthy, DL Bruno, G McGillivray, F Norris, SM White, S Adroub, DJ Amor, A Yeung, R Oertel, MD Pertile, C Ngo, AR Arvaj, S Walker, P Charan, R Palma-Dias, N Woodrow and HR Slater

    Version of Record online : 18 JAN 2013, DOI: 10.1111/1471-0528.12150

  16. Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis

    Muscle & Nerve

    Volume 44, Issue 4, October 2011, Pages: 492–498, Roger Pamphlett, Julia M. Morahan, Natasha Luquin and Bing Yu

    Version of Record online : 8 AUG 2011, DOI: 10.1002/mus.22095

  17. Copy number variations in multiple sclerosis and neuromyelitis optica

    Annals of Neurology

    Volume 78, Issue 5, November 2015, Pages: 762–774, Shinya Sato, Ken Yamamoto, Takuya Matsushita, Noriko Isobe, Yuji Kawano, Kyoko Iinuma, Masaaki Niino, Toshiyuki Fukazawa, Yuri Nakamura, Mitsuru Watanabe, Tomomi Yonekawa, Katsuhisa Masaki, Satoshi Yoshimura, Hiroyuki Murai, Ryo Yamasaki, Jun-ichi Kira and and the Japan Multiple Sclerosis Genetics Consortium

    Version of Record online : 18 SEP 2015, DOI: 10.1002/ana.24511

  18. You have free access to this content
    Whole-genome array as a first-line cytogenetic test in prenatal diagnosis

    Ultrasound in Obstetrics & Gynecology

    Volume 45, Issue 4, April 2015, Pages: 363–372, M. I. Srebniak, D. Van Opstal, M. Joosten, K. E. M. Diderich, F. A. T. de Vries, S. Riedijk, M. F. C. M. Knapen, A. T. J. I. Go, L. C. P. Govaerts and R.-J. H. Galjaard

    Version of Record online : 1 APR 2015, DOI: 10.1002/uog.14745

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    An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 899–907, Renjie Tan, Yadong Wang, Sarah E. Kleinstein, Yongzhuang Liu, Xiaolin Zhu, Hongzhe Guo, Qinghua Jiang, Andrew S. Allen and Mingfu Zhu

    Version of Record online : 1 MAY 2014, DOI: 10.1002/humu.22537

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    Copy number variation in autoimmunity — importance hidden in complexity?

    European Journal of Immunology

    Volume 42, Issue 8, August 2012, Pages: 1969–1976, Lina M. Olsson and Rikard Holmdahl

    Version of Record online : 3 AUG 2012, DOI: 10.1002/eji.201242601