Publications
Population sequencing data reveal a compendium of mutational processes in the human germ line. Science. 2021 ;373(6558):1030-1035.
. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 ;11(1):25.
. 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.
. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest. 2016 ;126(8):2881-92.
. Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 ;12(11):e1006446.
. . Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet. 2015 ;96(4):555-64.
. DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. Science. 2015 ;349(6249):742-7.
. Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. Genome Res. 2014 ;24(11):1740-50.
. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013 ;161A(12):3182-6.
. Replicative mechanisms for CNV formation are error prone. Nat Genet. 2013 ;45(11):1319-26.
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Involvement of SSRP1 in latent replication of Kaposi's sarcoma-associated herpesvirus. J Virol. 2009 ;83(21):11051-63.
. Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercross. Mamm Genome. 2009 ;20(4):224-35.
. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 2007 ;447(7146):799-816.
. Complete nucleotide sequence of a P2 family lysogenic bacteriophage, varphiMhaA1-PHL101, from Mannheimia haemolytica serotype A1. Virology. 2006 ;350(1):79-89.
. Hypermutagenesis in mutA cells is mediated by mistranslational corruption of polymerase, and is accompanied by replication fork collapse. Mol Microbiol. 2006 ;62(6):1752-63.
. Characterization of the minimal replicator of Kaposi's sarcoma-associated herpesvirus latent origin. J Virol. 2005 ;79(4):2637-42.
. DNA polymerase III from Escherichia coli cells expressing mutA mistranslator tRNA is error-prone. J Biol Chem. 2002 ;277(48):46319-27.
. . The Escherichia coli UVM response is accompanied by an SOS-independent error-prone DNA replication activity demonstrable in vitro. Mol Microbiol. 2000 ;38(2):368-80.
. The genome sequence of Drosophila melanogaster. Science. 2000 ;287(5461):2185-95.
. An allylic/acyclic adenosine nucleoside triphosphate for termination of DNA synthesis by DNA template-dependent polymerases. Nucleic Acids Res. 1999 ;27(5):1271-4.
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