Concepedia

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

Antoinet C.J. Gijsbers, Janet YK Lew, Cathy A.J. Bosch, Janneke Schuurs-Hoeijmakers, Arie van Haeringen, Nicolette S. den Hollander, Sarina G. Kant, Emilia K. Bijlsma, Martijn H. Breuning, Egbert Bakker,

European Journal of Human Genetics · 2009 · 85 citations · 46 references

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46

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

, , +17

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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Recurrent 16p11.2 microdeletions in autism

Revati Kumar, Samer Karamohamed, Jyotsna Sudi et al. · Human Molecular Genetics · 2007 · 744 citations · Full text

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De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.

Dorothy Warburton · PubMed · 1991 · 680 citations

, , +17