Publications
Export 7 results:
Filters: Keyword is Gene Rearrangement and Author is Carvalho, Claudia M B [Clear All Filters]
Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet. 2015 ;96(4):555-64.
. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 ;24(14):4061-77.
. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med. 2019 ;11(1):80.
. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. 2016 ;17(4):224-38.
. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 ;176(6):1310-1324.e10.
. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 ;97(5):691-707.
. Replicative mechanisms for CNV formation are error prone. Nat Genet. 2013 ;45(11):1319-26.
.