Publications
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun. 2020 ;11(1):4625.
. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 ;102(5):985-994.
. DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. Science. 2015 ;349(6249):742-7.
. A functional variomics tool for discovering drug-resistance genes and drug targets. Cell Rep. 2013 ;3(2):577-85.
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Pressing ahead with human genome sequencing. Nat Genet. 1995 ;11(2):121-5.
. Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. Proc Natl Acad Sci U S A. 1991 ;88(14):6157-61.
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