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E. Hodges, Zhenyu Xuan, Vivekanand Balija, M. Kramer, Michael Molla, Steven Smith, C. Middle, M. Rodesch, T. Albert, G. Hannon, R. Mccombie (2007)
Genome-wide in situ exon capture for selective resequencingNature Genetics, 39
Sarah Ng, K. Buckingham, Choli Lee, A. Bigham, H. Tabor, K. Dent, C. Huff, P. Shannon, E. Jabs, D. Nickerson, J. Shendure, M. Bamshad (2009)
Exome sequencing identifies the cause of a Mendelian disorderNature genetics, 42
M. O’Donovan, N. Craddock, N. Norton, H. Williams, T. Peirce, V. Moskvina, I. Nikolov, M. Hamshere, L. Carroll, L. Georgieva, S. Dwyer, P. Holmans, J. Marchini, C. Spencer, Bryan Howie, H. Leung, A. Hartmann, H. Möller, D. Morris, Yongyong Shi, G. Feng, P. Hoffmann, P. Propping, Catalina Vasilescu, W. Maier, M. Rietschel, S. Zammit, J. Schumacher, E. Quinn, T. Schulze, N. Williams, I. Giegling, N. Iwata, M. Ikeda, A. Darvasi, S. Shifman, Lin He, J. Duan, A. Sanders, D. Levinson, P. Gejman, S. Cichon, M. Nöthen, M. Gill, A. Corvin, D. Rujescu, G. Kirov, M. Owen (2008)
Identification of loci associated with schizophrenia by genome-wide association and follow-upNature Genetics, 40
M. Keller, G. Miller (2006)
Resolving the paradox of common, harmful, heritable mental disorders: which evolutionary genetic models work best?The Behavioral and brain sciences, 29 4
Murim Choi, U. Scholl, W. Ji, Tiewen Liu, Irina Tikhonova, P. Zumbo, A. Nayır, A. Bakkaloğlu, S. Özen, S. Sanjad, C. Nelson-Williams, A. Farhi, Shrikant Mane, R. Lifton (2009)
Genetic diagnosis by whole exome capture and massively parallel DNA sequencingProceedings of the National Academy of Sciences, 106
M. Iles (2008)
What Can Genome-Wide Association Studies Tell Us about the Genetics of Common DiseasePLoS Genetics, 4
H. Leonard, X. Wen (2002)
The epidemiology of mental retardation: challenges and opportunities in the new millennium.Mental retardation and developmental disabilities research reviews, 8 3
Rudolf Uher (2009)
The role of genetic variation in the causation of mental illness: an evolution-informed frameworkMolecular Psychiatry, 14
J. Lupski (2010)
New mutations and intellectual functionNature Genetics, 42
L. Vissers, J. Ligt, C. Gilissen, I. Janssen, M. Steehouwer, P. Vries, B. Lier, P. Arts, Nienke Wieskamp, M. Rosario, B. Bon, A. Hoischen, B. Vries, H. Brunner, J. Veltman (2010)
A de novo paradigm for mental retardationNature Genetics, 42
P. Muglia, F. Tozzi, N. Galwey, C. Francks, C. Francks, R. Upmanyu, Xiangyang Kong, A. Antoniades, A. Antoniades, E. Domenici, J. Perry, S. Rothen, C. Vandeleur, V. Mooser, G. Waeber, P. Vollenweider, M. Preisig, S. Lucae, B. Müller-Myhsok, Florian Holsboer, Lefkos Middleton, L. Middleton, A. Roses, A. Roses (2010)
Genome-wide association study of recurrent major depressive disorder in two European case–control cohortsMolecular Psychiatry, 15
F. Hamdan, J. Gauthier, D. Spiegelman, A. Noreau, Yan Yang, Stéphanie Pellerin, Sylvia Dobrzeniecka, M. Côté, Elisabeth Perreau-Linck, L. Carmant, G. D'anjou, E. Fombonne, A. Addington, J. Rapoport, L. DeLisi, M. Krebs, F. Mouaffak, R. Joober, L. Mottron, P. Drapeau, C. Marineau, R. Lafreniére, J. Lacaille, G. Rouleau, J. Michaud (2009)
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.The New England journal of medicine, 360 6
E. Cook, S. Scherer (2008)
Copy-number variations associated with neuropsychiatric conditionsNature, 455
Roach (2010)
Analysis of genetic inheritance in a family quartet by whole-genome sequencing.Science, 328
Maila Giannandrea, V. Bianchi, M. Mignogna, A. Sirri, Salvatore Carrabino, Errico D’Elia, M. Vecellio, S. Russo, F. Cogliati, L. Larizza, H. Ropers, A. Tzschach, V. Kalscheuer, B. Oehl‐Jaschkowitz, C. Skinner, C. Schwartz, J. Gécz, H. Esch, M. Raynaud, J. Chelly, A. Brouwer, D. Toniolo, P. D’Adamo (2010)
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.American journal of human genetics, 86 2
D. Lugtenberg, Apm Brouwer, T. Kleefstra, A. Oudakker, S. Frints, C. Schrander‐Stumpel, J. Fryns, L. Jensen, J. Chelly, C. Moraine, G. Turner, J. Veltman, B. Hamel, B. Vries, H. Bokhoven, H. Yntema (2005)
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGHJournal of Medical Genetics, 43
Sarah Ng, Emily Turner, P. Robertson, Steven Flygare, A. Bigham, Choli Lee, Tristan Shaffer, Michelle Wong, Arindam Bhattacharjee, Evan Eichler, Michael Bamshad, Deborah Nickerson, Jay Shendure (2009)
Targeted Capture and Massively Parallel Sequencing of Twelve Human ExomesNature, 461
L. Jensen, M. Amende, Ulf Gurok, B. Moser, V. Gimmel, A. Tzschach, A. Janecke, G. Tariverdian, J. Chelly, J. Fryns, H. Esch, T. Kleefstra, B. Hamel, C. Moraine, J. Gécz, G. Turner, R. Reinhardt, V. Kalscheuer, H. Ropers, S. Lenzner (2005)
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.American journal of human genetics, 76 2
J. Roach, G. Glusman, A. Smit, C. Huff, R. Hubley, P. Shannon, L. Rowen, K. Pant, N. Goodman, M. Bamshad, J. Shendure, R. Drmanac, L. Jorde, L. Hood, D. Galas
Supporting Online Material Materials and Methods Som Text Figs. S1 to S9 Tables S1 to S17 References Dataset S1 Analysis of Genetic Inheritance in a Family Quartet by Whole-genome Sequencing
B. Vries, R. Pfundt, Martijn Leisink, D. Koolen, L. Vissers, I. Janssen, S. Reijmersdal, W. Nillesen, Erik Huys, N. Leeuw, D. Smeets, E. Sistermans, T. Feuth, C. Ravenswaaij-Arts, A. Kessel, E. Schoenmakers, H. Brunner, J. Veltman (2005)
Diagnostic genome profiling in mental retardation.American journal of human genetics, 77 4
P. Burton, D. Clayton, L. Cardon, N. Craddock, P. Deloukas, A. Duncanson, D. Kwiatkowski, M. McCarthy, W. Ouwehand, N. Samani, J. Todd, P. Donnelly, J. Barrett, D. Davison, D. Easton, David Evans, H. Leung, J. Marchini, A. Morris, C. Spencer, M. Tobin, A. Attwood, J. Boorman, B. Cant, Ursula Everson, Judith Hussey, J. Jolley, A. Knight, K. Koch, Elizabeth Meech, S. Nutland, C. Prowse, H. Stevens, N. Taylor, G. Walters, N. Walker, N. Watkins, T. Winzer, Richard Jones, W. McArdle, S. Ring, D. Strachan, M. Pembrey, G. Breen, D. Clair, S. Caesar, K. Gordon-Smith, L. Jones, C. Fraser, E. Green, D. Grozeva, M. Hamshere, P. Holmans, I. Jones, G. Kirov, V. Moskvina, I. Nikolov, M. O’Donovan, M. Owen, D. Collier, A. Elkin, A. Farmer, R. Williamson, P. McGuffin, A. Young, I. Ferrier, S. Ball, A. Balmforth, J. Barrett, D. Bishop, M. Iles, A. Maqbool, N. Yuldasheva, A. Hall, P. Braund, R. Dixon, M. Mangino, Suzanne Stevens, J. Thompson, F. Bredin, M. Tremelling, M. Parkes, H. Drummond, C. Lees, E. Nimmo, J. Satsangi, S. Fisher, A. Forbes, C. Lewis, Clive Onnie, N. Prescott, J. Sanderson, C. Mathew, J. Barbour, M. Mohiuddin, C. Todhunter, J. Mansfield, T. Ahmad, Fraser Cummings, D. Jewell, J. Webster, Morris Brown, G. Lathrop, J. Connell, A. Dominiczak, C. Marcano, B. Burke, R. Dobson, J. Gungadoo, Kate Lee, P. Munroe, S. Newhouse, Abiodun Onipinla, C. Wallace, M. Xue, M. Caulfield, M. Farrall, A. Barton, I. Bruce, Hannah Donovan, S. Eyre, Paul Gilbert, S. Hider, A. Hinks, S. John, C. Potter, A. Silman, D. Symmons, W. Thomson, Jane Worthington, D. Dunger, B. Widmer, T. Frayling, R. Freathy, H. Lango, J. Perry, B. Shields, M. Weedon, A. Hattersley, G. Hitman, M. Walker, K. Elliott, C. Groves, C. Lindgren, N. Rayner, N. Timpson, E. Zeggini, M. Newport, G. Sirugo, Emily Lyons, F. Vannberg, A. Hill, L. Bradbury, C. Farrar, J. Pointon, Paul Wordsworth, M. Brown, J. Franklyn, J. Heward, M. Simmonds, S. Gough, S. Seal, M. Stratton, N. Rahman, M. Ban, A. Goris, S. Sawcer, Alastair Compston, D. Conway, M. Jallow, K. Rockett, S. Bumpstead, Amy Chaney, K. Downes, Mohammed Ghori, R. Gwilliam, S. Hunt, M. Inouye, Andrew Keniry, E. King, R. McGinnis, Simon Potter, R. Ravindrarajah, P. Whittaker, Claire Widden, D. Withers, Niall Cardin, T. Ferreira, Joanne Pereira-Gale, Ingileif Hallgrímsdóttir, Bryan Howie, Z. Su, Y. Teo, Damjan Vukcevic, D. Bentley, A. Compston (2007)
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controlsNature, 447
M. Lynch (2010)
Rate, molecular spectrum, and consequences of human mutationProceedings of the National Academy of Sciences, 107
A de novo paradigm for mental retardation Vissers et al. (2010) Nature Genetics 42:1109–1112
Clinical Genetics – Wiley
Published: May 1, 2011
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