共 275 条
- [1] Chiang C(2017)The impact of structural variation on human gene expression Nat Genet 49 692-699
- [2] Scott AJ(2014)The clinical significance of small copy number variants in neurodevelopmental disorders J Med Genet 51 677-688
- [3] Davis JR(2013)The growing importance of CNVs: new insights for detection and clinical interpretation Front Genet 4 92-347
- [4] Tsang EK(2014)Genome sequencing identifies major causes of severe intellectual disability Nature. 511 344-764
- [5] Li X(2010)Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet 86 749-11906
- [6] Kim Y(2016)Deep sequencing of 10,000 human genomes Proc Natl Acad Sci 113 11901-85
- [7] Asadollahi R(2016)Detecting copy number variation via next generation technology Curr Genet Med Rep 4 74-1590
- [8] Oneda B(2016)Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease Eur J Hum Genet EJHG 24 1584-81
- [9] Joset P(2015)An integrated map of structural variation in 2,504 human genomes Nature. 526 75-712
- [10] Azzarello-Burri S(2010)Origins and functional impact of copy number variation in the human genome Nature. 464 704-984