Publications
Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 ;204(1):19-25.
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Identification of genes subject to positive selection in uropathogenic strains of Escherichia coli: a comparative genomics approach. Proc Natl Acad Sci U S A. 2006 ;103(15):5977-82.
. Identification of genes and pathways involved in kidney renal clear cell carcinoma. BMC Bioinformatics. 2014 ;15 Suppl 17(Suppl 17):S2.
. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet. 1996 ;13(1):109-13.
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Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases. Front Genet. 2021 ;12:647400.
. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily. Genet Med. 2022 ;24(7):1523-1535.
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Identification of a QTL for adipocyte volume and of shared genetic effects with aspartate aminotransferase. Biochem Genet. 2010 ;48(5-6):538-47.
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Identification of a novel tumor suppressor gene p34 on human chromosome 6q25.1. Cancer Res. 2007 ;67(1):93-9.
. Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. Hum Mol Genet. 1992 ;1(8):645-6.
. Identification and removal of colanic acid from plasmid DNA preparations: implications for gene therapy. Gene Ther. 2010 ;17(12):1484-99.
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Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage. Science. 1987 ;236(4799):303-5.
. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 2007 ;447(7146):799-816.
. Identical genomic organization of two hemichordate hox clusters. Curr Biol. 2012 ;22(21):2053-8.
. The i5K Initiative: advancing arthropod genomics for knowledge, human health, agriculture, and the environment. J Hered. 2013 ;104(5):595-600.