Publications
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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.
. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 ;176(6):1310-1324.e10.
. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 ;168(5):830-842.e7.
. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 ;99(2):318-36.
. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet. 2015 ;11(3):e1005050.
. . The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 ;26(3):319-330.
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