Concepedia

16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

John Barber, Victoria L. Hall, Viv Maloney, Shuwen Huang, Angharad M. Roberts, Angela F. Brady, Nicki Foulds, Beverley Bewes, Marianne Volleth, Thomas Liehr,

European Journal of Human Genetics · 2012 · 74 citations · 28 references

DOI

Concepts

References

28

Association between Microdeletion and Microduplication at 16p11.2 and Autism

Lauren A. Weiss, Yiping Shen, Joshua M. Korn et al. · New England Journal of Medicine · 2008 · 1.7K citations · Full text

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A Sequencing Method Based on Real-Time Pyrophosphate

Mostafa Ronaghi, Mathias Uhlén, Pål Nyrén · Science · 1998 · 1.6K citations

, , +7

Characterising and Predicting Haploinsufficiency in the Human Genome

Ni Huang, Insuk Lee, Edward M. Marcotte et al. · PLoS Genetics · 2010 · 686 citations · Full text

, , +16

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 674 citations · Full text

, , +10

Association Between Microdeletion and Microduplication at 16p11.2 and Autism

Lauren A. Weiss, Yiping Shen, Joshua M. Korn et al. · Obstetrical & Gynecological Survey · 2008 · 654 citations

, , +17