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There are 10140 results for: content related to: Pathogenic or not? Assessing the clinical relevance of copy number variants

  1. 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

  2. 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

  3. 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

  4. 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

  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

  6. 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

  7. Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 361–366, A. Spreiz, E. Haberlandt, M. Baumann, S. Baumgartner Sigl, C. Fauth, K. Gautsch, D. Karall, C. Janetschek, K. Rostasy, S. Scholl-Bürgi, S. Zotter, G. Utermann, J. Zschocke and D. Kotzot

    Version of Record online : 28 OCT 2013, DOI: 10.1111/cge.12288

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    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

  9. 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

  10. Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future

    Human Mutation

    Volume 30, Issue 8, August 2009, Pages: 1139–1152, Maaike Alaerts and Jurgen Del-Favero

    Version of Record online : 28 APR 2009, DOI: 10.1002/humu.21042

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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

  12. 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

  13. Implementation of high-resolution SNP arrays in the investigation of fetuses with ultrasound malformations: 5 years of clinical experience

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 264–269, C. Liao, F. Fu, R. Li, G.-e. Xie, Y.-l. Zhang, J. Li and D.-z. Li

    Version of Record online : 31 OCT 2013, DOI: 10.1111/cge.12271

  14. Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 156, Issue 2, March 2011, Pages: 115–124, Anna Bremer, MaiBritt Giacobini, Mats Eriksson, Peter Gustavsson, Viviann Nordin, Elisabeth Fernell, Christopher Gillberg, Ann Nordgren, Åsa Uppströmer, Britt-Marie Anderlid, Magnus Nordenskjöld and Jacqueline Schoumans

    Version of Record online : 8 DEC 2010, DOI: 10.1002/ajmg.b.31142

  15. 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

  16. Copy number variation plays an important role in clinical epilepsy

    Annals of Neurology

    Volume 75, Issue 6, June 2014, Pages: 943–958, Heather Olson, Yiping Shen, Jennifer Avallone, Beth R. Sheidley, Rebecca Pinsky, Ann M. Bergin, Gerard T. Berry, Frank H. Duffy, Yaman Eksioglu, David J. Harris, Fuki M. Hisama, Eugenia Ho, Mira Irons, Christina M. Jacobsen, Philip James, Sanjeev Kothare, Omar Khwaja, Jonathan Lipton, Tobias Loddenkemper, Jennifer Markowitz, Kiran Maski, J. Thomas Megerian, Edward Neilan, Peter C. Raffalli, Michael Robbins, Amy Roberts, Eugene Roe, Caitlin Rollins, Mustafa Sahin, Dean Sarco, Alison Schonwald, Sharon E. Smith, Janet Soul, Joan M. Stoler, Masanori Takeoka, Wen-Han Tan, Alcy R. Torres, Peter Tsai, David K. Urion, Laura Weissman, Robert Wolff, Bai-Lin Wu, David T. Miller and Annapurna Poduri

    Version of Record online : 13 JUN 2014, DOI: 10.1002/ana.24178

  17. Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability

    Clinical Genetics

    Volume 83, Issue 2, February 2013, Pages: 145–154, Y Qiao, C Tyson, M Hrynchak, E Lopez-Rangel, J Hildebrand, S Martell, C Fawcett, L Kasmara, K Calli, C Harvard, X Liu, JJA Holden, SME Lewis and E Rajcan-Separovic

    Version of Record online : 9 APR 2012, DOI: 10.1111/j.1399-0004.2012.01860.x

  18. Rare copy number variants are common in young children with autism spectrum disorder

    Acta Paediatrica

    Volume 104, Issue 6, June 2015, Pages: 610–618, Mats Anders Eriksson, Agne Liedén, Joakim Westerlund, Anna Bremer, Josephine Wincent, Ellika Sahlin, Christopher Gillberg, Elisabeth Fernell and Britt-Marie Anderlid

    Version of Record online : 11 MAR 2015, DOI: 10.1111/apa.12969

  19. High-Resolution Survey in Familial Parkinson Disease Genes Reveals Multiple Independent Copy Number Variation Events in PARK2

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1071–1074, Liyong Wang, Karen Nuytemans, Guney Bademci, Cherylyn Jauregui, Eden R. Martin, William K. Scott, Jeffery M. Vance and Stephan Zuchner

    Version of Record online : 28 MAY 2013, DOI: 10.1002/humu.22344

  20. 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