X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
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Published:2015-02-03
Issue:1
Volume:21
Page:133-148
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ISSN:1359-4184
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Container-title:Molecular Psychiatry
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language:en
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Short-container-title:Mol Psychiatry
Author:
Hu H, Haas S A, Chelly J, Van Esch H, Raynaud M, de Brouwer A P M, Weinert S, Froyen G, Frints S G M, Laumonnier F, Zemojtel T, Love M I, Richard H, Emde A-K, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett M A, Gardner A, Willis-Owen S, Tan C, Friend K L, Belet S, van Roozendaal K E P, Jimenez-Pocquet M, Moizard M-P, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager L B, Wieacker P, Rodríguez Criado G, Bondeson M-L, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns J-P, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker T F, Tzschach A, van Bokhoven H, Gecz JORCID, Jentsch T J, Chen W, Ropers H-H, Kalscheuer V M
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Psychiatry and Mental health,Molecular Biology
Reference133 articles.
1. Ropers HH, Hamel BC . X-linked mental retardation. Nat Rev Genet 2005; 6: 46–57. 2. de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB et al. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 2007; 28: 207–208. 3. Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 2009; 41: 535–543. 4. Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK et al. Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet 2010; 87: 173–188. 5. Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA et al. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet 2010; 42: 486–488.
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