Genomics, intellectual disability, and autism.
作者信息
Mefford Heather C, Batshaw Mark L, Hoffman Eric P
机构信息
Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
出版信息
N Engl J Med. 2012 Feb 23;366(8):733-43. doi: 10.1056/NEJMra1114194.
Abstract
摘要
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J Med Genet. 2012 Feb;49(2):110-8. doi: 10.1136/jmedgenet-2011-100499. Epub 2011 Dec 17.
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Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia.独立估计英国人群中罕见 CNV 的频率证实了它们在精神分裂症中的作用。
Schizophr Res. 2012 Mar;135(1-3):1-7. doi: 10.1016/j.schres.2011.11.004. Epub 2011 Nov 29.
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Deep sequencing reveals 50 novel genes for recessive cognitive disorders.深度测序揭示 50 个隐性认知障碍的新基因。
Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.与染色体 16p11.2 位点基因剂量相关的镜极端 BMI 表型。
Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406.
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A copy number variation morbidity map of developmental delay.发育迟缓的拷贝数变异发病率图。
Nat Genet. 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909.
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Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.罕见拷贝数变异发现和跨疾病比较鉴定 ADHD 的风险基因。
Sci Transl Med. 2011 Aug 10;3(95):95ra75. doi: 10.1126/scitranslmed.3002464.
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Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications.言语延迟和行为问题是发育迟缓以及16p11.2微缺失和微重复个体的主要特征。
J Neurodev Disord. 2010 Mar;2(1):26-38. doi: 10.1007/s11689-009-9037-4.
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16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders.16p13.11 号染色体重复是广泛的神经精神疾病的一个风险因素。
J Hum Genet. 2011 Jul;56(7):541-4. doi: 10.1038/jhg.2011.42. Epub 2011 May 26.
9
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.外显子组测序在散发性自闭症谱系障碍中发现严重的新生突变。
Nat Genet. 2011 Jun;43(6):585-9. doi: 10.1038/ng.835. Epub 2011 May 15.
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Recessive LAMC3 mutations cause malformations of occipital cortical development.隐性 LAMC3 突变导致枕部皮质发育畸形。
Nat Genet. 2011 Jun;43(6):590-4. doi: 10.1038/ng.836. Epub 2011 May 15.
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