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There are 7236 results for: content related to: The genetic variability and commonality of neurodevelopmental disease

  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. 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

  3. Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 1, January 2013, Pages: 24–35, Jillian Nicholl, Wendy Waters, Shanna Suwalski, Sue Brown, Yvonne Hull, Michael G. Harbord, John Entwistle, Suzanna Thompson, Damian Clark, Claire Pridmore, Eric Haan, Christopher Barnett, Lesley McGregor, Jan Liebelt, Elizabeth M. Thompson, Kathryn Friend, Sharon M. Bain, Dr. Sui Yu and John C. Mulley

    Version of Record online : 26 NOV 2012, DOI: 10.1002/ajmg.b.32114

  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. 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

  6. 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

  7. 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

  8. 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

  9. Identification of rare copy number variants in high burden schizophrenia families

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 3, April 2013, Pages: 273–282, Maarten J. Van Den Bossche, Mojca Strazisar, Sophia Cammaerts, Anthony M. Liekens, Geert Vandeweyer, Veerle Depreeuw, Maria Mattheijssens, An-Sofie Lenaerts, Sonia De Zutter, Peter De Rijk, Bernard Sabbe and Jurgen Del-Favero

    Version of Record online : 15 MAR 2013, DOI: 10.1002/ajmg.b.32146

  10. Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2386–2396, Fady M. Mikhail, Edward J. Lose, Nathaniel H. Robin, Maria D. Descartes, Katherine D. Rutledge, S. Lane Rutledge, Bruce R. Korf and Andrew J. Carroll

    Version of Record online : 16 AUG 2011, DOI: 10.1002/ajmg.a.34177

  11. You have full text access to this OnlineOpen article
    Epi4K: Gene discovery in 4,000 genomes

    Epilepsia

    Volume 53, Issue 8, August 2012, Pages: 1457–1467, The Epi4K Consortium

    Version of Record online : 29 MAY 2012, DOI: 10.1111/j.1528-1167.2012.03511.x

  12. Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 1–13, Stuart Cantsilieris and Stefan J. White

    Version of Record online : 23 AUG 2012, DOI: 10.1002/humu.22172

  13. 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

  14. You have full text access to this OnlineOpen article
    Links between genetics and pathophysiology in the autism spectrum disorders

    EMBO Molecular Medicine

    Volume 3, Issue 8, August 2011, Pages: 438–450, Richard Holt and Anthony P. Monaco

    Version of Record online : 1 AUG 2011, DOI: 10.1002/emmm.201100157

  15. You have full text access to this OnlineOpen article
    Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1279–1284, James R. Priest, Santhosh Girirajan, Tiffany H. Vu, Aaron Olson, Evan E. Eichler and Michael A. Portman

    Version of Record online : 23 APR 2012, DOI: 10.1002/ajmg.a.35315

  16. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2664–2673, Kacie N. Riley, Lisa M. Catalano, John A. Bernat, Stacie D. Adams, Donna M. Martin, Seema R. Lalani, Ankita Patel, Rachel D. Burnside, Jeffrey W. Innis and M. Katharine Rudd

    Version of Record online : 31 JUL 2015, DOI: 10.1002/ajmg.a.37269

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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

  18. Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

    Human Mutation

    Volume 30, Issue 7, July 2009, Pages: 1082–1092, Dominic J. McMullan, Michael Bonin, Jayne Y. Hehir-Kwa, Bert B.A. de Vries, Andreas Dufke, Eleanor Rattenberry, Marloes Steehouwer, Luminita Moruz, Rolph Pfundt, Nicole de Leeuw, Angelika Riess, Özge Altug-Teber, Herbert Enders, Sylke Singer, Ute Grasshoff, Michael Walter, Judith M. Walker, Catherine V. Lamb, E. Val Davison, Louise Brueton, Olaf Riess and Joris A. Veltman

    Version of Record online : 18 MAR 2009, DOI: 10.1002/humu.21015

  19. 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

  20. Identification of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of autism

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 159B, Issue 6, September 2012, Pages: 710–717, Susan Shur-Fen Gau, Hsiao-Mei Liao, Chao-Chun Hong, Wei-Hsien Chien and Chia-Hsiang Chen

    Version of Record online : 9 JUL 2012, DOI: 10.1002/ajmg.b.32074