Concepedia

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

Nicolien Hanemaaijer, Birgit Sikkema‐Raddatz, Gerben van der Vries, Trijnie Dijkhuizen, Roel Hordijk, Anthonie J. van Essen, Hermine E. Veenstra‐Knol, Wilhelmina S. Kerstjens‐Frederikse, Johanna C. Herkert, Erica H. Gerkes,

European Journal of Human Genetics · 2011 · 71 citations · 16 references

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References

16

Detection of large-scale variation in the human genome

A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations

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Large-Scale Copy Number Polymorphism in the Human Genome

Jonathan Sebat, B. Lakshmi, Jennifer Troge et al. · Science · 2004 · 2.6K citations

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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 811 citations · Full text

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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

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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius et al. · The American Journal of Human Genetics · 2005 · 627 citations · Full text

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