Concepedia

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

Simone Sanna‐Cherchi, Krzysztof Kiryluk, Katelyn E. Burgess, Monica Bodria, Matthew G. Sampson, Dexter Hadley, Shannon N. Nees, Miguel Verbitsky, Brittany J. Perry, Roel Sterken,

The American Journal of Human Genetics · 2012 · 233 citations · 30 references

DOIFull text

Open access

Concepts

References

30

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics · 2007 · 36.1K citations · Full text

, , +13

Global variation in copy number in the human genome

Richard Redon, Shumpei Ishikawa, Karen Fitch et al. · Nature · 2006 · 4.4K citations · Full text

, , +16

Origins and functional impact of copy number variation in the human genome

Donald F. Conrad, Dalila Pinto, Richard Redon et al. · Nature · 2009 · 2.1K citations

, , +16

PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

Kai Wang, Mingyao Li, Dexter Hadley et al. · Genome Research · 2007 · 1.9K citations · Full text

, , +17

Large recurrent microdeletions associated with schizophrenia

Hreinn Stefánsson, Dan Rujescu, Sven Cichon et al. · Nature · 2008 · 1.8K citations · Full text

, , +7