Publications

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Filters: Author is Boone, Philip M and Keyword is Comparative Genomic Hybridization  [Clear All Filters]
2014
Okamoto, Y. et al. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med 16, 386-394 (2014).
2013
Boone, P. M. et al. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res 23, 1383-94 (2013).
Boone, P. M. et al. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 15, 45-54 (2013).