Estimates of penetrance for recurrent pathogenic copy-number variations

A copy number variation morbidity map of developmental delay

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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

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

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Life Sciences, Genetics, Molecular Genetics +16

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

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Genetic disorders in children and young adults: a population study.

Patricia A. Baird, Tom Anderson, Howard B. Newcombe et al. · PubMed · 1988 · 415 citations

Life Sciences, Genetics, Pediatrics +16