Publications
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Filters: Author is Carvalho, Claudia M B and Keyword is Genetic Variation [Clear All Filters]
Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 ;20(10):995-1002.
. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 ;98(3):553-561.
. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. 2016 ;17(4):224-38.
. Replicative mechanisms for CNV formation are error prone. Nat Genet. 2013 ;45(11):1319-26.
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