Concepedia

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

Erwin Brosens, Florian Marsch, Elisabeth M. de Jong, Hitisha P. Zaveri, Alina C. Hilger, Vera Choinitzki, Alice Hölscher, Per Hoffmann, Stefan Herms, Thomas M. Boemers,

European Journal of Human Genetics · 2016 · 33 citations · 35 references

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35

A copy number variation morbidity map of developmental delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan et al. · Nature Genetics · 2011 · 1.4K citations · Full text

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Refining analyses of copy number variation identifies specific genes associated with developmental delay

Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld et al. · Nature Genetics · 2014 · 758 citations · Full text

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The VATER association

Linda Quan, David W. Smith · The Journal of Pediatrics · 1973 · 638 citations

, , +17

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

Andy Itsara, Gregory M. Cooper, Carl Baker et al. · The American Journal of Human Genetics · 2009 · 628 citations · Full text

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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Erin B. Kaminsky, Vineith Kaul, Justin Paschall et al. · Genetics in Medicine · 2011 · 450 citations

, , +17